Materiały źródłowe

• #1 Primary Immune Deficiencies – Principles of Care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4266088/

  Primary immune deficiencies (PIDs) are a growing group of over 230 different disorders caused by ineffective, absent or an increasing number of gain of function mutations in immune components, mainly cells and proteins. Once recognized, these rare disorders are treatable and in some cases curable. Otherwise untreated PIDs are often chronic, serious, or even fatal. The diagnosis of PIDs can be difficult due to lack of awareness or facilities for diagnosis, and management of PIDs is complex. This document was prepared by a worldwide multi-disciplinary team of specialists; it aims to set out comprehensive principles of care for PIDs. These include the role of specialized centers, the importance of registries, the need for multinational research, the role of patient organizations, management and treatment options, the requirement for sustained access to all treatments including immunoglobulin therapies and hematopoietic stem cell transplantation, important considerations for developing countries and suggestions for implementation. A range of healthcare policies and services have to be put into place by government agencies and healthcare providers, to ensure that PID patients worldwide have access to appropriate and sustainable medical and support services.

• #2 Primary Immunodeficiency: Types & Symptoms

  https://my.clevelandclinic.org/health/diseases/17964-primary-immunodeficiency

  Primary immunodeficiency refers to a group of more than 400 disorders that affect your immune system. These disorders prevent your immune system from functioning properly. This can make you more susceptible to infection and certain diseases, including autoimmune diseases and cancers. […] Providers treat primary immunodeficiency by preventing and managing infections and replacing missing or defective immune system components. […] If you’ve received a primary immunodeficiency diagnosis, your treatment goals will include managing current infections and preventing future infections. Your exact primary immunodeficiency treatment depends on the type of infection. […] Your healthcare provider may prescribe medications, including antibiotics to prevent or clear bacterial infections, antivirals to help you recover from infections caused by viruses, and immune globulin, which you may receive in a vein or under your skin, to replace some types of immune system components.

• #3 Primary Immunodeficiency Disease (PIDD): List, Symptoms & Treatment

  https://www.medicinenet.com/primary_immunodeficiency_disease_pidd/article.htm

  Primary immunodeficiency disease (PIDD) is a disease of the immune system itself, in contrast to secondary immunodeficiency with a weak immune system as a result of another condition, like HIV/AIDS. […] Most types of primary immunodeficiency diseases are due to inherited (genetic) defects, so there is no known way to prevent primary immunodeficiency diseases. […] Treatments for primary immunodeficiency disease include antibiotics to fight infection and depending upon the cause of the primary immunodeficiency disease, immune-boosting therapies. […] Stem cell transplantation may be an appropriate treatment for severe or life-threatening types of primary immunodeficiency disease. […] You can help your child with primary immunodeficiency disease by learning as much about the condition as possible and helping your child through any challenges he or she may face.

• #4 Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00662-6

  Primary immunodeficiencies (PI), which include more than 450 single-gene inborn errors of immunity and may affect up to 1% of the population, are genetic disorders that impair the immune system. If not properly identified and treated, individuals with PI are subject to serious, prolonged, and sometimes life-threatening infections or autoimmunity. […] The goal of this endeavor was to raise awareness of PI to better identify, diagnose, and treat patients, reducing associated mortality and morbidity and improving quality of life (QOL). […] This global analysis of physician-reported data on patients with PI demonstrates an increase in both diagnosed and treated patients. […] The JMCN provides a critical platform that facilitates the education of physicians and patients, awareness initiatives, and research advances, through collaboration and connectivity, ultimately resulting in improved outcomes and QOL for patients with PI.

• #5 Evaluation of Primary Immunodeficiency Disease in Children | AAFP

  https://www.aafp.org/pubs/afp/issues/2013/0601/p773.html

  One in 2,000 children younger than 18 years is thought to have a primary immunodeficiency disease. […] When a primary immunodeficiency disease is suspected in a child, initial laboratory testing should include a human immunodeficiency virus test, complete blood count with differential, and measurement of serum immunoglobulin and complement levels. […] The most common presentations of a primary immunodeficiency disease in children are recurrent ear, sinus, and pulmonary infections; diarrhea; and failure to thrive. […] A basic laboratory workup that includes testing for human immunodeficiency virus (HIV) antibody, complete blood count with differential, and measurement of serum immunoglobulin and complement levels can identify children who need further testing and referral to a subspecialist for a suspected immunodeficiency disease.

• #6 About Primary Immunodeficiency (PI) | Primary Immunodeficiency (PI) | CDC

  https://www.cdc.gov/primary-immunodeficiency/about/index.html

  People with primary immunodeficiency (PI) have an immune system that doesn’t work correctly. This makes them more likely to get and become very sick from infections. […] Talk to your healthcare provider if you think that you or your child has signs of PI. Your healthcare provider might refer you or your child to a clinical immunologist, a healthcare provider who specializes in the immune system. […] Early diagnosis can help prevent or delay some of the health problems caused by PI. Left untreated, some types of PI can result in serious health problems, including organ damage, and even death. Even with treatment, most types of PI do not have a cure. […] Taking steps to prevent infection is very important if you have PI. […] Treatments vary, depending on the type of PI, and can include treatments to prevent infections and treatments to address the underlying cause.

• #7 Primary immunodeficiency – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/symptoms-causes/syc-20376905

  Primary immunodeficiency disorders also called primary immune disorders or primary immunodeficiency weaken the immune system, allowing infections and other health problems to occur more easily. […] Treatments can boost the immune system in many types of primary immunodeficiency disorders. Research is ongoing, leading to improved treatments and enhanced quality of life for people with the condition. […] If you or your child has frequent, recurrent or severe infections or infections that don’t respond to treatments, talk to your health care provider. Early diagnosis and treatment of primary immune deficiencies can prevent infections that can cause long-term problems. […] Because primary immune disorders are caused by genetic changes, there’s no way to prevent them. But when you or your child has a weakened immune system, you can take steps to prevent infections:

• #8 About Primary Immunodeficiency (PI) | Primary Immunodeficiency (PI) | CDC

  https://www.cdc.gov/primary-immunodeficiency/about/index.html

  People with primary immunodeficiency (PI) have an immune system that doesn’t work correctly. This makes them more likely to get and become very sick from infections. […] Talk to your healthcare provider if you think that you or your child has signs of PI. Your healthcare provider might refer you or your child to a clinical immunologist, a healthcare provider who specializes in the immune system. […] Early diagnosis can help prevent or delay some of the health problems caused by PI. Left untreated, some types of PI can result in serious health problems, including organ damage, and even death. Even with treatment, most types of PI do not have a cure. […] Taking steps to prevent infection is very important if you have PI. […] Treatments vary, depending on the type of PI, and can include treatments to prevent infections and treatments to address the underlying cause.

• #9 Primary Immune Deficiencies – Principles of Care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4266088/

  Access to specialist care is a problem in many countries. Diagnosis of PIDs is often delayed, resulting in unnecessary complications, and appropriate management is suboptimal or even unavailable, especially in less developed regions. Access to early diagnosis and specialist care ensures the best health outcomes not only for the individual but also for society. […] Early diagnosis shortens diagnostic delay that is distressing to the family, damaging to the patient and wasteful of health-care resources. […] The key principle goal of Ig replacement therapy is to prevent bacterial infections and avoid organ damage that leads to chronic disease and poor quality of life. Infection prevention rather than a targeted serum IgG level is the goal of Ig replacement therapy as the protective serum IgG level varies with individual patients.

• #10

  https://www.healio.com/news/allergy-asthma/primary-immunodeficiency-disease

  Patients who are immunocompromised still can receive a variety of vaccinations based on their specific needs, Cassandra Calabrese, DO, said during her presentation at Updates in Primary Immunodeficiency 2025. […] Artificial intelligence can improve care for patients with primary immunodeficiencies, but human input is still necessary, Nicholas L. Rider, DO, said at Updates in Primary Immunodeficiency 2025. […] Primary immunodeficiencies are not as rare as they used to be, James Fernandez, MD, PhD, told Healio, and practicing allergist-immunologists need to be prepared to diagnose and treat them, often in collaboration with other specialists. […] Genetic testing can play a positive role and help improve outcomes in managing immunodeficiencies, according to a presentation at the American College of Allergy, Asthma Immunology Annual Scientific Meeting. […] Patients with primary immunodeficiencies experience an average of 9 to 15 years between the onset of their symptoms to diagnosis of their disorder and treatment that could save their lives, according to the Immune Deficiency Foundation.

• #11 Primary immunodeficiency – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/diagnosis-treatment/drc-20376910

  Your doctor will ask about your history of illnesses and whether any close relatives have an inherited immune system disorder. Your doctor will also perform a physical examination. […] Treatments for primary immunodeficiency involve preventing and treating infections, boosting the immune system, and treating the underlying cause of the immune problem. In some cases, primary immune disorders are linked to a serious illness, such as an autoimmune disorder or cancer, which also needs to be treated. […] Infections require rapid and aggressive treatment with antibiotics. Treatment might require a longer course of antibiotics than is usually prescribed. Infections that don’t respond may require hospitalization and intravenous (IV) antibiotics. […] Some people need long-term antibiotics to prevent respiratory infections and permanent damage to the lungs and ears.

• #12 Evaluation of Primary Immunodeficiency Disease in Children | AAFP

  https://www.aafp.org/pubs/afp/issues/2013/0601/p773.html

  One in 2,000 children younger than 18 years is thought to have a primary immunodeficiency disease. […] When a primary immunodeficiency disease is suspected in a child, initial laboratory testing should include a human immunodeficiency virus test, complete blood count with differential, and measurement of serum immunoglobulin and complement levels. […] The most common presentations of a primary immunodeficiency disease in children are recurrent ear, sinus, and pulmonary infections; diarrhea; and failure to thrive. […] A basic laboratory workup that includes testing for human immunodeficiency virus (HIV) antibody, complete blood count with differential, and measurement of serum immunoglobulin and complement levels can identify children who need further testing and referral to a subspecialist for a suspected immunodeficiency disease.

• #13 Primary Immunodeficiency Disease | Immunodeficiency Disorders

  https://idatb.com/primary-immunodeficiency/

  Throughout many tests, doctors’ visits, specialist visits, and lab work the affected person may begin to hear physicians talk about the possibility of a Primary Immunodeficiency (PI) as the underlying cause. […] If you have a primary immunodeficiency disease, you may experience the following: Frequent and recurrent pneumonia, bronchitis, sinus infections, ear infections, meningitis, or skin infections. […] The treatments for primary immunodeficiencies are broad. They range from simple antibiotics used in preventing infection or to treat a current infection, to biological medications that can be used to augment the immune system. […] If you do have a primary immune deficiency, other than following the recommendations and guidance provided by your doctor, you must avoid infection. […] If your doctor is concerned that you or a loved one may be struggling with a primary immune deficiency, then your physician will most likely send in for laboratory tests that assess certain types of cells, proteins, or blood samples that are very important for an immune system to function properly.

• #14 Primary immunodeficiency for the primary care provider

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4807806/

  Primary immunodeficiencies are a group of heterogeneous disorders resulting from defects affecting the function of 1 parts of the immune system. […] Knowledge gaps delay diagnosis and treatment, leading to increased morbidity and mortality. The present review aims to provide the primary care provider with the tools necessary to recognize primary immunodeficiency and assist in establishing diagnoses. […] The primary care provider plays a key role in establishing the diagnosis of primary immunodeficiency in several ways. […] When primary immunodeficiency is suspected, basic blood work (CBC, immunoglobulin levels and documenting response to vaccines) is often helpful. A clinical immunologist can advise on further diagnostic tests and management of these patients. […] Management of primary immunodeficiency is individualized to patients underlying diagnosis and clinical conditions. Treatment options for primary immunodeficiency include supportive treatment (antimicrobial prophylaxis, immunization and replacement Igs) and curative treatment (HSCT and gene therapy).

• #15

  https://www.nursingcenter.com/cearticle?an=00152193-202305000-00006&Journal_ID=54016&Issue_ID=6648474

  Immunodeficiency is an immune system defect that increases a person’s susceptibility to infection and is classified as a primary or secondary disorder. Primary immunodeficiency (PID) diseases, sometimes called inborn errors of immunity, are rare genetic defects in one or more immune system components resulting in infections that may be severe, persistent, recurrent, and present with unusual complications or organisms. […] The prognosis of PID depends on the underlying etiology. Most people are expected to have an average lifespan if they receive aggressive treatment and maintain a healthy lifestyle. […] Treatment for immunodeficiency includes preventing infection, managing infection, replacing the absent immune system component, and controlling medical conditions and adverse reactions of medications in SID. Infection is prevented by closely monitoring a patient’s signs and symptoms.

• #16 Evaluation of Primary Immunodeficiency Disease in Children | AAFP

  https://www.aafp.org/pubs/afp/issues/2013/0601/p773.html

  One in 2,000 children younger than 18 years is thought to have a primary immunodeficiency disease. […] When a primary immunodeficiency disease is suspected in a child, initial laboratory testing should include a human immunodeficiency virus test, complete blood count with differential, and measurement of serum immunoglobulin and complement levels. […] The most common presentations of a primary immunodeficiency disease in children are recurrent ear, sinus, and pulmonary infections; diarrhea; and failure to thrive. […] A basic laboratory workup that includes testing for human immunodeficiency virus (HIV) antibody, complete blood count with differential, and measurement of serum immunoglobulin and complement levels can identify children who need further testing and referral to a subspecialist for a suspected immunodeficiency disease.

• #17 Evaluation of Primary Immunodeficiency Disease in Children | AAFP

  https://www.aafp.org/pubs/afp/issues/2013/0601/p773.html

  HIV infection should be considered in newborns and adolescents who present with diarrhea, failure to thrive, and unusual opportunistic infections. […] A complete blood count with differential should be obtained to screen for a T-cell or phagocytic disorder. […] Patients with B-cell disorders have low serum immunoglobulin levels and decreased production or response of immunoglobulins to vaccination. […] Complement disorders are screened by checking the components of the classic and alternative pathways. […] In 2010, the U.S. Department of Health and Human Services recommended routine screening for SCID in newborns.

• #18 Primary immunodeficiency for the primary care provider

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4807806/

  Primary immunodeficiencies are a group of heterogeneous disorders resulting from defects affecting the function of 1 parts of the immune system. […] Knowledge gaps delay diagnosis and treatment, leading to increased morbidity and mortality. The present review aims to provide the primary care provider with the tools necessary to recognize primary immunodeficiency and assist in establishing diagnoses. […] The primary care provider plays a key role in establishing the diagnosis of primary immunodeficiency in several ways. […] When primary immunodeficiency is suspected, basic blood work (CBC, immunoglobulin levels and documenting response to vaccines) is often helpful. A clinical immunologist can advise on further diagnostic tests and management of these patients. […] Management of primary immunodeficiency is individualized to patients underlying diagnosis and clinical conditions. Treatment options for primary immunodeficiency include supportive treatment (antimicrobial prophylaxis, immunization and replacement Igs) and curative treatment (HSCT and gene therapy).

• #19 Primary immunodeficiency diseases: Practice among primary care providers and awareness among the general public, United States, 2008 | Genetics in Medicine

  https://www.nature.com/articles/gim2010131

  When PIDD is suspected, recommended initial laboratory testing includes a complete blood count with differential, quantitative immunoglobulins, and often specific antibody measurements. If testing indicates the presence of an immunodeficiency, or a strong clinical suspicion remains, the patient should be referred to a clinical immunologist. […] Additional PIDD educational efforts that target both health care providers and the general public may be warranted. Increased awareness of PIDD along with incorporation of best practices for treating individuals with suspected PIDD is one way of improving recognition of these disorders, reducing morbidity, and enhancing the quality of life.

• #20 Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00662-6

  The initiation of SCID newborn screening programs, improvements in diagnostics, and advancements in genomic technologies over the past few decades have allowed for better prevalence estimates and have resulted in improved comprehension of PI and the causal mechanisms leading to monogenic defects of the immune system. […] The JMCN serves as a longstanding and growing platform for collaboration and cutting-edge research, with coordinated and open access to expert immunologists, to promote further meaningful advancements in the field of PI, including gene discovery.

• #21 Primary immunodeficiency – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/diagnosis-treatment/drc-20376910

  Your doctor will ask about your history of illnesses and whether any close relatives have an inherited immune system disorder. Your doctor will also perform a physical examination. […] Treatments for primary immunodeficiency involve preventing and treating infections, boosting the immune system, and treating the underlying cause of the immune problem. In some cases, primary immune disorders are linked to a serious illness, such as an autoimmune disorder or cancer, which also needs to be treated. […] Infections require rapid and aggressive treatment with antibiotics. Treatment might require a longer course of antibiotics than is usually prescribed. Infections that don’t respond may require hospitalization and intravenous (IV) antibiotics. […] Some people need long-term antibiotics to prevent respiratory infections and permanent damage to the lungs and ears.

• #22 Primary immunodeficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/primary-immunodeficiency

  Primary immunodeficiency disorders also called primary immune disorders or primary immunodeficiency weaken the immune system, allowing infections and other health problems to occur more easily. […] Treatments can boost the immune system in many types of primary immunodeficiency disorders. Research is ongoing, leading to improved treatments and enhanced quality of life for people with the condition. […] If you or your child has frequent, recurrent or severe infections or infections that don’t respond to treatments, talk to your health care provider. Early diagnosis and treatment of primary immune deficiencies can prevent infections that can cause long-term problems. […] Treatments for primary immunodeficiency involve preventing and treating infections, boosting the immune system, and treating the underlying cause of the immune problem. In some cases, primary immune disorders are linked to a serious illness, such as an autoimmune disorder or cancer, which also needs to be treated.

• #23 Primary immunodeficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/primary-immunodeficiency

  Infections require rapid and aggressive treatment with antibiotics. Treatment might require a longer course of antibiotics than is usually prescribed. Infections that don’t respond may require hospitalization and intravenous (IV) antibiotics. […] Some people need long-term antibiotics to prevent respiratory infections and permanent damage to the lungs and ears. […] Immunoglobulin consists of antibody proteins needed for the immune system to fight infections. It can either be injected into a vein through an IV line or inserted underneath the skin (subcutaneous infusion). IV treatment is needed every few weeks, and subcutaneous infusion is needed once or twice a week. […] Stem cell transplantation offers a permanent cure for several forms of life-threatening immunodeficiency. Normal stem cells are transferred to the person with immunodeficiency, which results in a typically functioning immune system.

• #24 Primary immunodeficiency – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/diagnosis-treatment/drc-20376910

  Your doctor will ask about your history of illnesses and whether any close relatives have an inherited immune system disorder. Your doctor will also perform a physical examination. […] Treatments for primary immunodeficiency involve preventing and treating infections, boosting the immune system, and treating the underlying cause of the immune problem. In some cases, primary immune disorders are linked to a serious illness, such as an autoimmune disorder or cancer, which also needs to be treated. […] Infections require rapid and aggressive treatment with antibiotics. Treatment might require a longer course of antibiotics than is usually prescribed. Infections that don’t respond may require hospitalization and intravenous (IV) antibiotics. […] Some people need long-term antibiotics to prevent respiratory infections and permanent damage to the lungs and ears.

• #25 Primary immunodeficiency // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/primary-immunodeficiency

  Many primary immunodeficiency disorders are inherited passed down from one or both parents. […] Treatments for primary immunodeficiency involve preventing and treating infections, boosting the immune system, and treating the underlying cause of the immune problem. […] Infections require rapid and aggressive treatment with antibiotics. Treatment might require a longer course of antibiotics than is usually prescribed. […] Some people need long-term antibiotics to prevent respiratory infections and permanent damage to the lungs and ears. […] Immunoglobulin consists of antibody proteins needed for the immune system to fight infections. […] Stem cell transplantation offers a permanent cure for several forms of life-threatening immunodeficiency. […] Most people with primary immunodeficiency can go to school and work like everyone else. […] Ask your doctor if there are support groups in the area for people with primary immunodeficiency or for parents of children with the disease.

• #26 Primary Immunodeficiency: Types & Symptoms

  https://my.clevelandclinic.org/health/diseases/17964-primary-immunodeficiency

  Primary immunodeficiency refers to a group of more than 400 disorders that affect your immune system. These disorders prevent your immune system from functioning properly. This can make you more susceptible to infection and certain diseases, including autoimmune diseases and cancers. […] Providers treat primary immunodeficiency by preventing and managing infections and replacing missing or defective immune system components. […] If you’ve received a primary immunodeficiency diagnosis, your treatment goals will include managing current infections and preventing future infections. Your exact primary immunodeficiency treatment depends on the type of infection. […] Your healthcare provider may prescribe medications, including antibiotics to prevent or clear bacterial infections, antivirals to help you recover from infections caused by viruses, and immune globulin, which you may receive in a vein or under your skin, to replace some types of immune system components.

• #27 Primary Immune Deficiencies – Principles of Care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4266088/

  Immunoglobulin replacement therapy is absolutely essential for the treatment of the majority of patients with a PID. There are a variety of IgG products currently marketed worldwide. Each new product undergoes clinical trials to establish efficacy (protection from infection), safety (no disease transmission or seriously harmful adverse events), and tolerability (minimal side effects) before it can be sold. […] Hematopoietic stem cell transplantation (from blood or bone marrow) is the only cure for severe, otherwise fatal PIDs that present in infancy or early childhood and all SCID children should have access to this life-saving therapy, regardless of where they live. […] To replace missing antibodies, the antibody deficiency patients need Ig on a regular basis for the duration of their lives. Although initial treatments are started under supervision in a day care facility with experienced staff, once stable, patients can either self-treat or be treated at the local hospital or health-care center. There still needs to be regular contact with the specialist immunology nurses and both easy access to and regular follow-up by the PID doctor, since complications can occur later and significant damage from infection or chronic inflammation, particularly for children or adults who are diagnosed late, needs to be monitored.

• #28 Primary Immunodeficiency Disease (PID) | Takeda U.S. Medical

  https://www.takedamedconnect.com/diseases-and-conditions/rare-immunology/primary-immunodeficiency-disease

  Primary immunodeficiency disease (PID) refers to a group of mostly inherited conditions that involve impairment of the immune system and require ongoing management. […] The management approach is highly dependent on the type of defect and is largely focused on the prevention and treatment of infections, while more severe cases may require hematopoietic stem cell transplants. […] The mainstay treatment for primary B-cell immunodeficiencies, is replacement of serum IgG with either intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG). […] If left untreated, PID can lead to hospitalizations, frequent days missed from work/school, prolonged antibiotic use, permanent organ damage or even death.

• #29 IVIG for Primary Immunodeficiency: Mechanism, Benefits, and Cost – AmeriPharma® Specialty Care

  https://ameripharmaspecialty.com/ivig/ivig-for-primary-immunodeficiency-mechanism-benefits-and-cost/

  The starting IVIG dose for PI is 400 – 600 mg/kg every 3 to 4 weeks. Repeated doses at regular intervals are necessary because the body uses up externally administered antibodies for normal bodily processes. Since IVIG doesn’t stimulate the immune system, constant replenishment, usually for a lifetime, is essential. […] IVIG products have no absolute contraindications. Yet, they must be avoided or used with caution in certain situations. […] If you have heart disease or high blood pressure, use caution and monitor closely when taking products high in sodium. […] The amount you pay for IVIG treatment can vary, depending on your insurance plan, geographical location, and pharmacy.

• #30 Primary immunodeficiency – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/diagnosis-treatment/drc-20376910

  Immunoglobulin consists of antibody proteins needed for the immune system to fight infections. It can either be injected into a vein through an intravenous (IV) line or inserted underneath the skin (subcutaneous infusion). treatment is needed every few weeks, and subcutaneous infusion is needed once or twice a week. […] Stem cell transplantation offers a permanent cure for several forms of life-threatening immunodeficiency. Normal stem cells are transferred to the person with immunodeficiency, which results in a typically functioning immune system. […] This type of treatment involves taking stem cells from the person with primary immunodeficiency, correcting the gene in the cells and then returning the corrected stem cells back to the person via an intravenous infusion. […] Depending on the type of disorder, treatment may involve other therapies, including enzyme replacement therapy or transplantation of the thymus, an organ located behind the breastbone (sternum) that produces T cells.

• #31 Primary Immune Deficiencies – Principles of Care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4266088/

  Access to specialist care is a problem in many countries. Diagnosis of PIDs is often delayed, resulting in unnecessary complications, and appropriate management is suboptimal or even unavailable, especially in less developed regions. Access to early diagnosis and specialist care ensures the best health outcomes not only for the individual but also for society. […] Early diagnosis shortens diagnostic delay that is distressing to the family, damaging to the patient and wasteful of health-care resources. […] The key principle goal of Ig replacement therapy is to prevent bacterial infections and avoid organ damage that leads to chronic disease and poor quality of life. Infection prevention rather than a targeted serum IgG level is the goal of Ig replacement therapy as the protective serum IgG level varies with individual patients.

• #32

  https://link.springer.com/article/10.1007/s40124-019-00202-8

  This review sought to assess the extent and causes of suboptimal healthcare outcomes for chronic variable immunodeficiency (CVID). […] Symptom recognition by primary care practitioners (PCP) remains a gating factor to treatment and a widespread and persistent barrier to optimal health outcomes. […] In the USA, PCPs are typically the gatekeepers to appropriate treatment for people with CVID; symptom recognition by PCPs is, therefore, an important gating factor. […] Approximately 80% of CVID diagnoses were reported as preceded by one or more incidences of pneumonia. […] The Jeffrey Modell Foundation asked its network physicians to compile statistics for the year prior to and year after diagnoses of their patients. Their analysis, which incorporated all primary immunodeficiencies excluding SCID, showed post-diagnosis reductions of 84% in hospitalization days, 83% in physician/emergency room visits, 56% in days on antibiotics, and 74% in work or school days missed.

• #33 Primary immunodeficiency – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/diagnosis-treatment/drc-20376910

  Immunoglobulin consists of antibody proteins needed for the immune system to fight infections. It can either be injected into a vein through an intravenous (IV) line or inserted underneath the skin (subcutaneous infusion). treatment is needed every few weeks, and subcutaneous infusion is needed once or twice a week. […] Stem cell transplantation offers a permanent cure for several forms of life-threatening immunodeficiency. Normal stem cells are transferred to the person with immunodeficiency, which results in a typically functioning immune system. […] This type of treatment involves taking stem cells from the person with primary immunodeficiency, correcting the gene in the cells and then returning the corrected stem cells back to the person via an intravenous infusion. […] Depending on the type of disorder, treatment may involve other therapies, including enzyme replacement therapy or transplantation of the thymus, an organ located behind the breastbone (sternum) that produces T cells.

• #34 Primary Immune Deficiencies – Principles of Care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4266088/

  Immunoglobulin replacement therapy is absolutely essential for the treatment of the majority of patients with a PID. There are a variety of IgG products currently marketed worldwide. Each new product undergoes clinical trials to establish efficacy (protection from infection), safety (no disease transmission or seriously harmful adverse events), and tolerability (minimal side effects) before it can be sold. […] Hematopoietic stem cell transplantation (from blood or bone marrow) is the only cure for severe, otherwise fatal PIDs that present in infancy or early childhood and all SCID children should have access to this life-saving therapy, regardless of where they live. […] To replace missing antibodies, the antibody deficiency patients need Ig on a regular basis for the duration of their lives. Although initial treatments are started under supervision in a day care facility with experienced staff, once stable, patients can either self-treat or be treated at the local hospital or health-care center. There still needs to be regular contact with the specialist immunology nurses and both easy access to and regular follow-up by the PID doctor, since complications can occur later and significant damage from infection or chronic inflammation, particularly for children or adults who are diagnosed late, needs to be monitored.

• #35 Primary immunodeficiency disease: a retrospective study of 112 Chinese children in a single tertiary care center | BMC Pediatrics | Full Text

  https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-019-1729-7

  Primary immunodeficiency disease (PID) is a disorder caused by an inherited flaw in the immune system that increases the susceptibility to infections. […] In the present study, 47 patients underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), and 2-year overall survival (OS) rate for these patients was 78.7% (37/47). […] PID typically emerges at early age. Recurrent infection and serious infection were the most common clinical manifestations. Allo-HSCT is a relatively effective therapeutic strategy for PID patients.

• #36 Primary immunodeficiency – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/diagnosis-treatment/drc-20376910

  Immunoglobulin consists of antibody proteins needed for the immune system to fight infections. It can either be injected into a vein through an intravenous (IV) line or inserted underneath the skin (subcutaneous infusion). treatment is needed every few weeks, and subcutaneous infusion is needed once or twice a week. […] Stem cell transplantation offers a permanent cure for several forms of life-threatening immunodeficiency. Normal stem cells are transferred to the person with immunodeficiency, which results in a typically functioning immune system. […] This type of treatment involves taking stem cells from the person with primary immunodeficiency, correcting the gene in the cells and then returning the corrected stem cells back to the person via an intravenous infusion. […] Depending on the type of disorder, treatment may involve other therapies, including enzyme replacement therapy or transplantation of the thymus, an organ located behind the breastbone (sternum) that produces T cells.

• #37 Primary Immunodeficiency Diseases Research | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/immune-disorders/immunodeficiency-disease/immunodeficiency-diseases-research.html

  Primary immunodeficiency diseases are disorders where the immune system cannot protect the body from infections. […] Stem cell transplant can cure some primary immunodeficiency diseases such as SCID. […] The St. Jude Transplant Program is developing a new clinical trial for patients with SCID. […] Gene therapy treats disease by correcting a mutated (changed) gene with a healthy one. […] Primary immunodeficiency diseases can be difficult to study because they are so rare. […] One goal of the PIDTC is to learn whether newborn screening for SCID can improve outcomes by finding immune problems earlier.

• #38 Primary immunodeficiency diseases (PIDD) – Children’s Health Immunology

  https://www.childrens.com/specialties-services/conditions/primary-immunodeficiency

  Curing a PIDD can offer children a permanent solution for a PIDD. Stem cell transplantation involves replacing your child’s defective immune system cells with normal stem cells from a donor. […] Immunoglobulin (or gamma globulin) therapy is often used to treat PIDDs. Injections of immunoglobulin replace the body’s deficiency and help fight off harmful viruses or bacteria. […] Gamma interferon is a synthetic material that helps stimulate immune system cells. It is used to treat a form of PIDD called chronic granulomatous disease. Gamma interferon therapy requires injections three times a week. […] Growth factor therapies can help treat certain types of PIDDs by boosting levels of white blood cells.

• #39 Nursing Management for Patients With Immunodeficiencies

  https://www.brainkart.com/article/Nursing-Management-for-Patients-With-Immunodeficiencies_32347/

  Nursing management includes assessment, patient teaching, and supportive care. […] Nursing care of patients with primary and secondary immunodeficiencies depends on the underlying cause of the immunodeficiency, the type of immunodeficiency, and its severity. […] Because immuno-deficiencies result in a compromised immune system and high risk for infection, careful assessment of the patients immune status is essential. […] The nurse monitors the patient for signs and symptoms of infection: fever; chills; cough with or without sputum; shortness of breath; difficulty breathing; difficulty swallowing; white patches in the oral cavity; swollen lymph nodes; nausea; vomiting; persistent diarrhea; frequency, urgency, or pain on urination; redness, swelling, or drainage from skin wounds; lesions on the face, lips, or perianal area; persistent vaginal discharge with or without perianal itching; and persistent abdominal pain.

• #40 Nursing Management for Patients With Immunodeficiencies

  https://www.brainkart.com/article/Nursing-Management-for-Patients-With-Immunodeficiencies_32347/

  Nursing management includes assessment, patient teaching, and supportive care. […] Nursing care of patients with primary and secondary immunodeficiencies depends on the underlying cause of the immunodeficiency, the type of immunodeficiency, and its severity. […] Because immuno-deficiencies result in a compromised immune system and high risk for infection, careful assessment of the patients immune status is essential. […] The nurse monitors the patient for signs and symptoms of infection: fever; chills; cough with or without sputum; shortness of breath; difficulty breathing; difficulty swallowing; white patches in the oral cavity; swollen lymph nodes; nausea; vomiting; persistent diarrhea; frequency, urgency, or pain on urination; redness, swelling, or drainage from skin wounds; lesions on the face, lips, or perianal area; persistent vaginal discharge with or without perianal itching; and persistent abdominal pain.

• #41 Nursing Management for Patients With Immunodeficiencies

  https://www.brainkart.com/article/Nursing-Management-for-Patients-With-Immunodeficiencies_32347/

  Nursing management includes assessment, patient teaching, and supportive care. […] Nursing care of patients with primary and secondary immunodeficiencies depends on the underlying cause of the immunodeficiency, the type of immunodeficiency, and its severity. […] Because immuno-deficiencies result in a compromised immune system and high risk for infection, careful assessment of the patients immune status is essential. […] The nurse monitors the patient for signs and symptoms of infection: fever; chills; cough with or without sputum; shortness of breath; difficulty breathing; difficulty swallowing; white patches in the oral cavity; swollen lymph nodes; nausea; vomiting; persistent diarrhea; frequency, urgency, or pain on urination; redness, swelling, or drainage from skin wounds; lesions on the face, lips, or perianal area; persistent vaginal discharge with or without perianal itching; and persistent abdominal pain.

• #42 Nursing Management for Patients With Immunodeficiencies

  https://www.brainkart.com/article/Nursing-Management-for-Patients-With-Immunodeficiencies_32347/

  The nurse also monitors laboratory values (ie, white blood cell count and differential cell count) for changes indicating infection. […] Other aspects of nursing care are directed toward reducing the patients risk for infection, assisting with medical measures aimed at improving immune status and treating infection, improving the nutritional status, and maintaining bowel and bladder function. […] Other aspects of nursing care include assisting the patient in managing stress and in adopting a lifestyle that enhances immune system function. […] A major role of the nurse is to assist the patient and family to understand the treatment options and to cope with the uncertainties of treatment outcomes. […] The patient and the caregivers are instructed about the signs and symptoms that indicate infection.

• #43

  https://www.nursingcenter.com/cearticle?an=00152193-202305000-00006&Journal_ID=54016&Issue_ID=6648474

  Nurses must teach the patient and their family that an interprofessional approach is necessary and includes physicians, advanced practice clinicians (APCs), nurses, physical therapists, occupational therapists, counselors, dietitians, and school teachers. […] PID causes various severe infections that may include dermatitis, eczema, gastrointestinal syndromes, autoimmunity, and malignancy. Early immunologic screening is warranted when immunodeficiency is suspected and aggressive treatment instituted to achieve the best outcomes.

• #44 Primary Immunodeficiency | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/primary-immunodeficiency

  Primary immunodeficiency disorders (PIDDs) are a group of inherited conditions affecting the immune system, due to a lack of, or dysfunction of white blood cells, which have important roles in fighting infections. […] It’s important to remember that this disorder it is caused by genes, and is not due to anything you or your child has or has not done. More importantly, with early diagnosis and aggressive treatment, your child has an excellent chance to continue to live an active, productive life. […] The Clinical Immunology Program takes a multidisciplinary approach to care that ensures your child will be given thoughtful consideration of every treatment possibility. Our team integrates expertise from immunologists, infectious disease specialists hematologist-oncologists and others. We work together to diagnose, manage and treat children with PIDDs.

• #45 Nursing Management for Patients With Immunodeficiencies

  https://www.brainkart.com/article/Nursing-Management-for-Patients-With-Immunodeficiencies_32347/

  The patient and family also need to learn about other ways to prevent infection. […] The patient and family must be instructed to monitor for subtle changes in physical status and must be informed of the importance of seeking immediate health care if changes occur. […] The importance of follow-up appointments is emphasized to the patient and family. […] The importance of continuing disease-prevention strategies is stressed because these strategies need to be followed lifelong.

• #46 Minimizing Exposure to Illness & Infection – IgCares PI Education

  https://igcares.com/home/education-minimize-exposure.html

  General principles of good hygiene are essential for patients with primary immunodeficiency diseases and their families. This includes regular bathing or showering and the use of soap. For some patients, the use of special germ-killing soaps may be prescribed. […] Regular hand washing should become routine before and after meals, after using the bathroom, after blowing the nose, coughing, petting an animal, gardening, or visiting or caring for a sick person any time there is a concern that excess germs have gotten onto one’s hands. […] Some individuals with a primary immunodeficiency are prone to tooth decay and to infections that stem from having decayed teeth. Regular visits to the dentist, proper brushing, and flossing should be a key part of the regular health regimen. […] A common sense approach to infection prevention is generally the best policy to follow. Individuals with PI should avoid exposure to people who have signs of an obvious infection, like people who are coughing, have a fever or have vomiting and/or diarrhea.

• #47 Primary immunodeficiency – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/symptoms-causes/syc-20376905

  Practice good hygiene. Wash your hands with mild soap after using the toilet and before eating. […] Take care of your teeth. Brush your teeth at least twice a day. […] Eat right. A healthy, balanced diet can help prevent infections. […] Be physically active. Staying fit is important to your overall health. Ask your doctor what activities are appropriate for you. […] Get enough sleep. Try to go to sleep and get up at the same time daily, and get the same number of hours of sleep every night. […] Manage stress. Some studies suggest that stress can hamper your immune system. Keep stress in check with massage, meditation, yoga, biofeedback or hobbies. Find what works for you. […] Avoid exposure. Stay away from people with colds or other infections and avoid crowds. […] Ask your doctor about vaccinations. Find out which ones you should have.

• #48 Minimizing Exposure to Illness & Infection – IgCares PI Education

  https://igcares.com/home/education-minimize-exposure.html

  Proactive, consistent self-care is a great way to help your body avoid susceptibility to infection and illness. Here are a few common sense recommendations: […] A healthy life style always includes exercise. Physical activity should be encouraged for all people, immunocompetent or immunodeficient. Not only are these activities good for the body, they are good for the mind, as well. Regular exercise is an excellent stress and anxiety reducer. […] Getting an adequate amount of sleep is an essential requirement for good health. Most scientists recommend a consistent number of hours of sleep per night and consistent bed times and waking times, as well. […] A healthy diet provides nutrients essential for normal growth and development, body repair and maintenance. Make sure you eat well.

• #49 Nursing Management for Patients With Immunodeficiencies

  https://www.brainkart.com/article/Nursing-Management-for-Patients-With-Immunodeficiencies_32347/

  The patient and family also need to learn about other ways to prevent infection. […] The patient and family must be instructed to monitor for subtle changes in physical status and must be informed of the importance of seeking immediate health care if changes occur. […] The importance of follow-up appointments is emphasized to the patient and family. […] The importance of continuing disease-prevention strategies is stressed because these strategies need to be followed lifelong.

• #50 Data for better primary immunodeficiency care (PID) | UZ Leuven

  https://www.uzleuven.be/en/news/data-better-primary-immunodeficiency-care-pid

  The campaign pushes for early diagnosis and access to good care for every patient. […] It includes improving access to a diagnosis, but also focussing on high-quality treatment and care for PID patients through collaborative and real world data usage. […] The careful collection and analysis of data on presentation, diagnosis and treatment are crucial to provide optimal care for the PID patients of the future. […] We want to stress the importance of PID awareness, because it is still being diagnosed much too late. […] Patients are often anxious and insecure about their treatment or their future and also have to deal with physical fatigue. […] UZ Leuven paediatric immunodeficiency department started the CARE4KIDS project, focussing on psychosocial support and education of young patients and their social surroundings.

• #51 Nursing Management for Patients With Immunodeficiencies

  https://www.brainkart.com/article/Nursing-Management-for-Patients-With-Immunodeficiencies_32347/

  The nurse also monitors laboratory values (ie, white blood cell count and differential cell count) for changes indicating infection. […] Other aspects of nursing care are directed toward reducing the patients risk for infection, assisting with medical measures aimed at improving immune status and treating infection, improving the nutritional status, and maintaining bowel and bladder function. […] Other aspects of nursing care include assisting the patient in managing stress and in adopting a lifestyle that enhances immune system function. […] A major role of the nurse is to assist the patient and family to understand the treatment options and to cope with the uncertainties of treatment outcomes. […] The patient and the caregivers are instructed about the signs and symptoms that indicate infection.

• #52 Primary Immunodeficiency | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/primary-immunodeficiency

  There are several treatments and care options to help manage the symptoms and allow your child live a healthy and active life. The most severe forms of PIDD may be cured by hematopoietic stem cell transplantation. However, most children with PIDD do not need this. […] There are several treatments we may recommend to support and improve the function of your child’s immune system, such as: gamma globulin (IgG) infusions – a procedure that supplements your child’s immune system with additional antibodies. […] In addition to following the recommendations your doctors give for supportive care, there are steps your family and child can take to maintain the general health of a child with PIDD. Following a healthy diet, including avoiding raw or undercooked foods that may contain bacteria, using filtered or bottled water, avoiding exposure to infection and practicing good personal hygiene will help your child stay healthy. […] We strive to also meet all of your family’s emotional and psycho-social needs. […] Our nurses will be on hand to walk you through your child’s treatment and help answer any questions you may have.

• #53 Primary immunodeficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/primary-immunodeficiency

  Most people with primary immunodeficiency can go to school and work like everyone else. Still, you might feel as if no one understands what it’s like to live with the constant threat of infections. Talking to someone who faces similar challenges may help. […] Ask your doctor if there are support groups in the area for people with primary immunodeficiency or for parents of children with the disease. The Immune Deficiency Foundation has a peer support program as well as information on living with primary immunodeficiency.

• #54

  https://www.advocatechildrenshospital.com/services/primary-immunodeficiency-disease-pidd

  Advocate Childrens Hospital features staff with extensive awareness and knowledge of PI disease. Working together and meeting monthly to determine the best course of treatment for each child with PI disease, our exceptional team includes pediatric immunologists, pediatric infectious disease specialists, and child psychologists. […] Although primary immunodeficiency diseases are genetic and cannot be prevented, parents can take steps to prevent their children with weakened immune systems from getting infections.

• #55

  https://www.nursingcenter.com/cearticle?an=00152193-202305000-00006&Journal_ID=54016&Issue_ID=6648474

  Nurses must teach the patient and their family that an interprofessional approach is necessary and includes physicians, advanced practice clinicians (APCs), nurses, physical therapists, occupational therapists, counselors, dietitians, and school teachers. […] PID causes various severe infections that may include dermatitis, eczema, gastrointestinal syndromes, autoimmunity, and malignancy. Early immunologic screening is warranted when immunodeficiency is suspected and aggressive treatment instituted to achieve the best outcomes.

• #56 Primary Immunodeficiency | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/primary-immunodeficiency

  Primary immunodeficiency disorders (PIDDs) are a group of inherited conditions affecting the immune system, due to a lack of, or dysfunction of white blood cells, which have important roles in fighting infections. […] It’s important to remember that this disorder it is caused by genes, and is not due to anything you or your child has or has not done. More importantly, with early diagnosis and aggressive treatment, your child has an excellent chance to continue to live an active, productive life. […] The Clinical Immunology Program takes a multidisciplinary approach to care that ensures your child will be given thoughtful consideration of every treatment possibility. Our team integrates expertise from immunologists, infectious disease specialists hematologist-oncologists and others. We work together to diagnose, manage and treat children with PIDDs.

• #57

  https://rsdjournal.org/index.php/rsd/article/view/29793

  Introduction: The Primary Immunodeficiency Diseases comprise more than 400 disorders of the immune system, are rare and associated with abnormal development of immune system cells. […] Objective: To analyze how nursing care for patients with primary immunodeficiency in health systems is described in the scientific literature. […] Results: Nine publications were selected. Descriptive studies predominated, with the qualitative approach being the most prevalent. […] Discussion: Nursing has numerous nursing attributions in this scenario, such as: performing actions before, during and after immunoglobulin infusion; informing and supporting family members/caregivers; be aware of the patient’s social context; promote self-care; prevent and control infections related to health care and encourage adherence to treatment, among other attributions. […] Conclusion: It is possible to acknowledge the need for trained professionals with scientific knowledge to correctly guide and offer quality care to patients with PID. In addition, further studies are needed on the role of nursing in this scenario, aiming at the propagation of knowledge.

• #58 Primary Immunodeficiency | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/primary-immunodeficiency

  There are several treatments and care options to help manage the symptoms and allow your child live a healthy and active life. The most severe forms of PIDD may be cured by hematopoietic stem cell transplantation. However, most children with PIDD do not need this. […] There are several treatments we may recommend to support and improve the function of your child’s immune system, such as: gamma globulin (IgG) infusions – a procedure that supplements your child’s immune system with additional antibodies. […] In addition to following the recommendations your doctors give for supportive care, there are steps your family and child can take to maintain the general health of a child with PIDD. Following a healthy diet, including avoiding raw or undercooked foods that may contain bacteria, using filtered or bottled water, avoiding exposure to infection and practicing good personal hygiene will help your child stay healthy. […] We strive to also meet all of your family’s emotional and psycho-social needs. […] Our nurses will be on hand to walk you through your child’s treatment and help answer any questions you may have.

• #59 Primary Immunodeficiency | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/primary-immunodeficiency

  There are several treatments and care options to help manage the symptoms and allow your child live a healthy and active life. The most severe forms of PIDD may be cured by hematopoietic stem cell transplantation. However, most children with PIDD do not need this. […] There are several treatments we may recommend to support and improve the function of your child’s immune system, such as: gamma globulin (IgG) infusions – a procedure that supplements your child’s immune system with additional antibodies. […] In addition to following the recommendations your doctors give for supportive care, there are steps your family and child can take to maintain the general health of a child with PIDD. Following a healthy diet, including avoiding raw or undercooked foods that may contain bacteria, using filtered or bottled water, avoiding exposure to infection and practicing good personal hygiene will help your child stay healthy. […] We strive to also meet all of your family’s emotional and psycho-social needs. […] Our nurses will be on hand to walk you through your child’s treatment and help answer any questions you may have.

• #60 Data for better primary immunodeficiency care (PID) | UZ Leuven

  https://www.uzleuven.be/en/news/data-better-primary-immunodeficiency-care-pid

  The campaign pushes for early diagnosis and access to good care for every patient. […] It includes improving access to a diagnosis, but also focussing on high-quality treatment and care for PID patients through collaborative and real world data usage. […] The careful collection and analysis of data on presentation, diagnosis and treatment are crucial to provide optimal care for the PID patients of the future. […] We want to stress the importance of PID awareness, because it is still being diagnosed much too late. […] Patients are often anxious and insecure about their treatment or their future and also have to deal with physical fatigue. […] UZ Leuven paediatric immunodeficiency department started the CARE4KIDS project, focussing on psychosocial support and education of young patients and their social surroundings.

• #61 Primary Immunodeficiency Diseases: Causes, Symptoms, Treatment, and More

  https://www.webmd.com/children/primary-immunodeficiency

  Speak up for them. […] Make healthy foods a priority. […] Stay active. […] Keep germs away. […] Keep stress in check. […] If your child has a PIDD, their immune system doesnt work as well as it should. This makes them much more likely to get infections. An early diagnosis is often key to preventing more serious health issues. […] With the right treatment, many children with PIDD are likely to have a full and active life. Making healthy decisions every day, such as washing hands often, eating healthy foods, and getting enough sleep, will also help support your childs immune system.

• #62 Primary Immunodeficiency Diseases | Duke Health

  https://www.dukehealth.org/pediatric-treatments/pediatric-allergy-and-immunology/primary-immunodeficiency-diseases

  Children with primary immunodeficiency diseases come to Duke Children’s for innovative treatment and lifesaving care. […] Early and accurate diagnosis and treatment can make a difference in a child’s quality of life. […] Treatments reduce symptoms, boost the immune system, and keep your child healthy. We use all resources to monitor your child closely and provide the care they need. […] To keep your child healthy, doctors may prescribe daily antibiotic treatments to prevent infections. […] Immunoglobulin replacement therapy safely infuses the body with purified antibodies to boost the immune system. […] Primary immunodeficiency disorders can be cured or managed with a stem cell transplant. […] Children with primary immunodeficiency diseases can benefit from therapy to keep their muscles strong and their bodies physically fit.

• #63 Information Sheets

  https://education.mn.gov/MDE/dse/sped/cat/ohd/info/059838

  Primary immunodeficiency diseases (PID) also called primary immune disorders or primary immunodeficiency weaken the immune system, allowing repeated infections and other health issues to occur more easily. […] Treatments for primary immunodeficiency involve preventing and treating infections, boosting the immune system and treating the underlying cause of the immune problem. […] Notify the school nurse of signs of illness immediately. Contact the parents to ensure appropriate follow-up care. […] The challenge of living with a chronic illness can cause significant stress and have a great impact on the psychological well-being of the student.

• #64 Information Sheets

  https://education.mn.gov/MDE/dse/sped/cat/ohd/info/059838

  Primary immunodeficiency diseases (PID) also called primary immune disorders or primary immunodeficiency weaken the immune system, allowing repeated infections and other health issues to occur more easily. […] Treatments for primary immunodeficiency involve preventing and treating infections, boosting the immune system and treating the underlying cause of the immune problem. […] Notify the school nurse of signs of illness immediately. Contact the parents to ensure appropriate follow-up care. […] The challenge of living with a chronic illness can cause significant stress and have a great impact on the psychological well-being of the student.

• #65 Information Sheets

  https://education.mn.gov/MDE/dse/sped/cat/ohd/info/059838

  Primary immunodeficiency diseases (PID) also called primary immune disorders or primary immunodeficiency weaken the immune system, allowing repeated infections and other health issues to occur more easily. […] Treatments for primary immunodeficiency involve preventing and treating infections, boosting the immune system and treating the underlying cause of the immune problem. […] Notify the school nurse of signs of illness immediately. Contact the parents to ensure appropriate follow-up care. […] The challenge of living with a chronic illness can cause significant stress and have a great impact on the psychological well-being of the student.

• #66 Primary Immunodeficiency Disease (PIDD): List, Symptoms & Treatment

  https://www.medicinenet.com/primary_immunodeficiency_disease_pidd/article.htm

  Many patients and families find it helpful to talk to another affected family or participate in a support group. […] You also can help your child take steps to avoid as many infections as possible, including good hygiene practices, avoiding exposure to contagious illness, and ensuring that he or she receives all appropriate childhood, adolescent, and adult vaccinations. […] Maintaining a healthy diet and getting adequate exercise and sleep also can help the body fight infections. […] Because most cases of primary immunodeficiency disease result from an inherited gene defect, there is no way to prevent their occurrence. […] Many children and adults with primary immunodeficiency disease can attend a school or work and maintain productive lives. […] The Immune Deficiency Foundation offers a number of support and educational resources, including peer support programs.

• #67 Primary Immunodeficiency Disease (PIDD): List, Symptoms & Treatment

  https://www.medicinenet.com/primary_immunodeficiency_disease_pidd/article.htm

  Many patients and families find it helpful to talk to another affected family or participate in a support group. […] You also can help your child take steps to avoid as many infections as possible, including good hygiene practices, avoiding exposure to contagious illness, and ensuring that he or she receives all appropriate childhood, adolescent, and adult vaccinations. […] Maintaining a healthy diet and getting adequate exercise and sleep also can help the body fight infections. […] Because most cases of primary immunodeficiency disease result from an inherited gene defect, there is no way to prevent their occurrence. […] Many children and adults with primary immunodeficiency disease can attend a school or work and maintain productive lives. […] The Immune Deficiency Foundation offers a number of support and educational resources, including peer support programs.

• #68 Primary Immunodeficiency | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/primary-immunodeficiency

  There are several treatments and care options to help manage the symptoms and allow your child live a healthy and active life. The most severe forms of PIDD may be cured by hematopoietic stem cell transplantation. However, most children with PIDD do not need this. […] There are several treatments we may recommend to support and improve the function of your child’s immune system, such as: gamma globulin (IgG) infusions – a procedure that supplements your child’s immune system with additional antibodies. […] In addition to following the recommendations your doctors give for supportive care, there are steps your family and child can take to maintain the general health of a child with PIDD. Following a healthy diet, including avoiding raw or undercooked foods that may contain bacteria, using filtered or bottled water, avoiding exposure to infection and practicing good personal hygiene will help your child stay healthy. […] We strive to also meet all of your family’s emotional and psycho-social needs. […] Our nurses will be on hand to walk you through your child’s treatment and help answer any questions you may have.

• #69

  https://link.springer.com/article/10.1007/s10875-017-0401-y

  Combined immunodeficiencies are not sufficiently treated by antibody replacement and some patients may require hematopoietic stem cell transplantation (HSCT). […] The ongoing needs of children with PID depend on their underlying condition and previous management. […] Transition planning and transition pathways therefore need to take into account the multiple aspects of maturation along with the social and personal changes that will affect the diagnosis, treatment, treatment compliance, and autonomy of the future adult with PID. […] Appropriate guidance and support during transition and regarding different options for treatment and care are essential to promote and sustain good and acceptable compliance with long-term management plans. […] Thus a number of challenges still remain, with many PID patients still facing protracted times to diagnosis and requiring lifelong chronic treatment rather than having curative options. […] Nevertheless, the long-term outcomes of PID patients have improved greatly in recent decades, such that many patients now survive longer and require new support paradigms as they age and mature.

• #70 ASCIA Inborn Errors of Immunity (Primary Immunodeficiencies) Clinical Care Standard – Australasian Society of Clinical Immunology and Allergy (ASCIA)

  https://www.allergy.org.au/hp/papers/ascia-iei-pid-clinical-care-standard

  People with IEI should start appropriate treatment as soon as feasible after diagnosis, which should not be delayed: […] People with IEI should have access to home-based therapies, including SCIg when indicated, depending on their suitability and preference: […] People with IEI are at increased risk of complications from infections and therefore require special consideration in healthcare settings (inpatient and outpatient), including the following infection control measures: […] People with IEI should be empowered by their clinical and allied health teams to make use of the information, educational resources and support services available through professional and patient/carer organisations: […] Young people with IEI should understand their condition and learn how to look after their health independently to facilitate transition from paediatric to adult medical services:

• #71

  https://link.springer.com/article/10.1007/s10875-017-0401-y

  Combined immunodeficiencies are not sufficiently treated by antibody replacement and some patients may require hematopoietic stem cell transplantation (HSCT). […] The ongoing needs of children with PID depend on their underlying condition and previous management. […] Transition planning and transition pathways therefore need to take into account the multiple aspects of maturation along with the social and personal changes that will affect the diagnosis, treatment, treatment compliance, and autonomy of the future adult with PID. […] Appropriate guidance and support during transition and regarding different options for treatment and care are essential to promote and sustain good and acceptable compliance with long-term management plans. […] Thus a number of challenges still remain, with many PID patients still facing protracted times to diagnosis and requiring lifelong chronic treatment rather than having curative options. […] Nevertheless, the long-term outcomes of PID patients have improved greatly in recent decades, such that many patients now survive longer and require new support paradigms as they age and mature.

• #72 ASCIA Inborn Errors of Immunity (Primary Immunodeficiencies) Clinical Care Standard – Australasian Society of Clinical Immunology and Allergy (ASCIA)

  https://www.allergy.org.au/hp/papers/ascia-iei-pid-clinical-care-standard

  People with IEI should start appropriate treatment as soon as feasible after diagnosis, which should not be delayed: […] People with IEI should have access to home-based therapies, including SCIg when indicated, depending on their suitability and preference: […] People with IEI are at increased risk of complications from infections and therefore require special consideration in healthcare settings (inpatient and outpatient), including the following infection control measures: […] People with IEI should be empowered by their clinical and allied health teams to make use of the information, educational resources and support services available through professional and patient/carer organisations: […] Young people with IEI should understand their condition and learn how to look after their health independently to facilitate transition from paediatric to adult medical services:

• #73

  https://link.springer.com/article/10.1007/s10875-017-0401-y

  Combined immunodeficiencies are not sufficiently treated by antibody replacement and some patients may require hematopoietic stem cell transplantation (HSCT). […] The ongoing needs of children with PID depend on their underlying condition and previous management. […] Transition planning and transition pathways therefore need to take into account the multiple aspects of maturation along with the social and personal changes that will affect the diagnosis, treatment, treatment compliance, and autonomy of the future adult with PID. […] Appropriate guidance and support during transition and regarding different options for treatment and care are essential to promote and sustain good and acceptable compliance with long-term management plans. […] Thus a number of challenges still remain, with many PID patients still facing protracted times to diagnosis and requiring lifelong chronic treatment rather than having curative options. […] Nevertheless, the long-term outcomes of PID patients have improved greatly in recent decades, such that many patients now survive longer and require new support paradigms as they age and mature.

• #74 General care | Immune Deficiency Foundation

  https://primaryimmune.org/living-primary-immunodeficiency/general-care

  A primary immunodeficiency (PI) diagnosis is a milestone along the journey for answers, and the beginning of the journey to manage the condition. Some lifestyle changes may be necessary, but most people with PI can lead full lives. […] Proper hygiene is crucial for people with PI and their families to prevent exposure to germs and infections. This involves regular bathing, and hand washing using soap and hot water for at least 20 seconds. Regular dental visits, proper brushing, and flossing are also important to prevent tooth decay and related complications. […] Stress has been scientifically linked to increased susceptibility to illness, especially for those with PI. Reducing stress improves immune function. […] Exercise is essential for maintaining a healthy lifestyle, regardless of immune status. […] Visiting a primary care provider regularly is crucial for good health, especially for people with PI. […] The key to managing PI is adopting a healthy lifestyle and complying with your healthcare team’s recommendations for treatment.

• #75 Minimizing Exposure to Illness & Infection – IgCares PI Education

  https://igcares.com/home/education-minimize-exposure.html

  General principles of good hygiene are essential for patients with primary immunodeficiency diseases and their families. This includes regular bathing or showering and the use of soap. For some patients, the use of special germ-killing soaps may be prescribed. […] Regular hand washing should become routine before and after meals, after using the bathroom, after blowing the nose, coughing, petting an animal, gardening, or visiting or caring for a sick person any time there is a concern that excess germs have gotten onto one’s hands. […] Some individuals with a primary immunodeficiency are prone to tooth decay and to infections that stem from having decayed teeth. Regular visits to the dentist, proper brushing, and flossing should be a key part of the regular health regimen. […] A common sense approach to infection prevention is generally the best policy to follow. Individuals with PI should avoid exposure to people who have signs of an obvious infection, like people who are coughing, have a fever or have vomiting and/or diarrhea.

• #76 General care | Immune Deficiency Foundation

  https://primaryimmune.org/living-primary-immunodeficiency/general-care

  A primary immunodeficiency (PI) diagnosis is a milestone along the journey for answers, and the beginning of the journey to manage the condition. Some lifestyle changes may be necessary, but most people with PI can lead full lives. […] Proper hygiene is crucial for people with PI and their families to prevent exposure to germs and infections. This involves regular bathing, and hand washing using soap and hot water for at least 20 seconds. Regular dental visits, proper brushing, and flossing are also important to prevent tooth decay and related complications. […] Stress has been scientifically linked to increased susceptibility to illness, especially for those with PI. Reducing stress improves immune function. […] Exercise is essential for maintaining a healthy lifestyle, regardless of immune status. […] Visiting a primary care provider regularly is crucial for good health, especially for people with PI. […] The key to managing PI is adopting a healthy lifestyle and complying with your healthcare team’s recommendations for treatment.

• #77 Primary immunodeficiency – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/symptoms-causes/syc-20376905

  Practice good hygiene. Wash your hands with mild soap after using the toilet and before eating. […] Take care of your teeth. Brush your teeth at least twice a day. […] Eat right. A healthy, balanced diet can help prevent infections. […] Be physically active. Staying fit is important to your overall health. Ask your doctor what activities are appropriate for you. […] Get enough sleep. Try to go to sleep and get up at the same time daily, and get the same number of hours of sleep every night. […] Manage stress. Some studies suggest that stress can hamper your immune system. Keep stress in check with massage, meditation, yoga, biofeedback or hobbies. Find what works for you. […] Avoid exposure. Stay away from people with colds or other infections and avoid crowds. […] Ask your doctor about vaccinations. Find out which ones you should have.

• #78 General care | Immune Deficiency Foundation

  https://primaryimmune.org/living-primary-immunodeficiency/general-care

  A primary immunodeficiency (PI) diagnosis is a milestone along the journey for answers, and the beginning of the journey to manage the condition. Some lifestyle changes may be necessary, but most people with PI can lead full lives. […] Proper hygiene is crucial for people with PI and their families to prevent exposure to germs and infections. This involves regular bathing, and hand washing using soap and hot water for at least 20 seconds. Regular dental visits, proper brushing, and flossing are also important to prevent tooth decay and related complications. […] Stress has been scientifically linked to increased susceptibility to illness, especially for those with PI. Reducing stress improves immune function. […] Exercise is essential for maintaining a healthy lifestyle, regardless of immune status. […] Visiting a primary care provider regularly is crucial for good health, especially for people with PI. […] The key to managing PI is adopting a healthy lifestyle and complying with your healthcare team’s recommendations for treatment.

• #79 Primary immunodeficiency – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/symptoms-causes/syc-20376905

  Practice good hygiene. Wash your hands with mild soap after using the toilet and before eating. […] Take care of your teeth. Brush your teeth at least twice a day. […] Eat right. A healthy, balanced diet can help prevent infections. […] Be physically active. Staying fit is important to your overall health. Ask your doctor what activities are appropriate for you. […] Get enough sleep. Try to go to sleep and get up at the same time daily, and get the same number of hours of sleep every night. […] Manage stress. Some studies suggest that stress can hamper your immune system. Keep stress in check with massage, meditation, yoga, biofeedback or hobbies. Find what works for you. […] Avoid exposure. Stay away from people with colds or other infections and avoid crowds. […] Ask your doctor about vaccinations. Find out which ones you should have.

• #80 Minimizing Exposure to Illness & Infection – IgCares PI Education

  https://igcares.com/home/education-minimize-exposure.html

  General principles of good hygiene are essential for patients with primary immunodeficiency diseases and their families. This includes regular bathing or showering and the use of soap. For some patients, the use of special germ-killing soaps may be prescribed. […] Regular hand washing should become routine before and after meals, after using the bathroom, after blowing the nose, coughing, petting an animal, gardening, or visiting or caring for a sick person any time there is a concern that excess germs have gotten onto one’s hands. […] Some individuals with a primary immunodeficiency are prone to tooth decay and to infections that stem from having decayed teeth. Regular visits to the dentist, proper brushing, and flossing should be a key part of the regular health regimen. […] A common sense approach to infection prevention is generally the best policy to follow. Individuals with PI should avoid exposure to people who have signs of an obvious infection, like people who are coughing, have a fever or have vomiting and/or diarrhea.

• #81 Primary immunodeficiency – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/symptoms-causes/syc-20376905

  Practice good hygiene. Wash your hands with mild soap after using the toilet and before eating. […] Take care of your teeth. Brush your teeth at least twice a day. […] Eat right. A healthy, balanced diet can help prevent infections. […] Be physically active. Staying fit is important to your overall health. Ask your doctor what activities are appropriate for you. […] Get enough sleep. Try to go to sleep and get up at the same time daily, and get the same number of hours of sleep every night. […] Manage stress. Some studies suggest that stress can hamper your immune system. Keep stress in check with massage, meditation, yoga, biofeedback or hobbies. Find what works for you. […] Avoid exposure. Stay away from people with colds or other infections and avoid crowds. […] Ask your doctor about vaccinations. Find out which ones you should have.

• #82 Primary Immunodeficiency | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/primary-immunodeficiency

  There are several treatments and care options to help manage the symptoms and allow your child live a healthy and active life. The most severe forms of PIDD may be cured by hematopoietic stem cell transplantation. However, most children with PIDD do not need this. […] There are several treatments we may recommend to support and improve the function of your child’s immune system, such as: gamma globulin (IgG) infusions – a procedure that supplements your child’s immune system with additional antibodies. […] In addition to following the recommendations your doctors give for supportive care, there are steps your family and child can take to maintain the general health of a child with PIDD. Following a healthy diet, including avoiding raw or undercooked foods that may contain bacteria, using filtered or bottled water, avoiding exposure to infection and practicing good personal hygiene will help your child stay healthy. […] We strive to also meet all of your family’s emotional and psycho-social needs. […] Our nurses will be on hand to walk you through your child’s treatment and help answer any questions you may have.

• #83 General care | Immune Deficiency Foundation

  https://primaryimmune.org/living-primary-immunodeficiency/general-care

  A primary immunodeficiency (PI) diagnosis is a milestone along the journey for answers, and the beginning of the journey to manage the condition. Some lifestyle changes may be necessary, but most people with PI can lead full lives. […] Proper hygiene is crucial for people with PI and their families to prevent exposure to germs and infections. This involves regular bathing, and hand washing using soap and hot water for at least 20 seconds. Regular dental visits, proper brushing, and flossing are also important to prevent tooth decay and related complications. […] Stress has been scientifically linked to increased susceptibility to illness, especially for those with PI. Reducing stress improves immune function. […] Exercise is essential for maintaining a healthy lifestyle, regardless of immune status. […] Visiting a primary care provider regularly is crucial for good health, especially for people with PI. […] The key to managing PI is adopting a healthy lifestyle and complying with your healthcare team’s recommendations for treatment.

• #84 Primary immunodeficiency – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/symptoms-causes/syc-20376905

  Practice good hygiene. Wash your hands with mild soap after using the toilet and before eating. […] Take care of your teeth. Brush your teeth at least twice a day. […] Eat right. A healthy, balanced diet can help prevent infections. […] Be physically active. Staying fit is important to your overall health. Ask your doctor what activities are appropriate for you. […] Get enough sleep. Try to go to sleep and get up at the same time daily, and get the same number of hours of sleep every night. […] Manage stress. Some studies suggest that stress can hamper your immune system. Keep stress in check with massage, meditation, yoga, biofeedback or hobbies. Find what works for you. […] Avoid exposure. Stay away from people with colds or other infections and avoid crowds. […] Ask your doctor about vaccinations. Find out which ones you should have.

• #85 Minimizing Exposure to Illness & Infection – IgCares PI Education

  https://igcares.com/home/education-minimize-exposure.html

  Proactive, consistent self-care is a great way to help your body avoid susceptibility to infection and illness. Here are a few common sense recommendations: […] A healthy life style always includes exercise. Physical activity should be encouraged for all people, immunocompetent or immunodeficient. Not only are these activities good for the body, they are good for the mind, as well. Regular exercise is an excellent stress and anxiety reducer. […] Getting an adequate amount of sleep is an essential requirement for good health. Most scientists recommend a consistent number of hours of sleep per night and consistent bed times and waking times, as well. […] A healthy diet provides nutrients essential for normal growth and development, body repair and maintenance. Make sure you eat well.

• #86 General care | Immune Deficiency Foundation

  https://primaryimmune.org/living-primary-immunodeficiency/general-care

  A primary immunodeficiency (PI) diagnosis is a milestone along the journey for answers, and the beginning of the journey to manage the condition. Some lifestyle changes may be necessary, but most people with PI can lead full lives. […] Proper hygiene is crucial for people with PI and their families to prevent exposure to germs and infections. This involves regular bathing, and hand washing using soap and hot water for at least 20 seconds. Regular dental visits, proper brushing, and flossing are also important to prevent tooth decay and related complications. […] Stress has been scientifically linked to increased susceptibility to illness, especially for those with PI. Reducing stress improves immune function. […] Exercise is essential for maintaining a healthy lifestyle, regardless of immune status. […] Visiting a primary care provider regularly is crucial for good health, especially for people with PI. […] The key to managing PI is adopting a healthy lifestyle and complying with your healthcare team’s recommendations for treatment.

• #87 Minimizing Exposure to Illness & Infection – IgCares PI Education

  https://igcares.com/home/education-minimize-exposure.html

  Proactive, consistent self-care is a great way to help your body avoid susceptibility to infection and illness. Here are a few common sense recommendations: […] A healthy life style always includes exercise. Physical activity should be encouraged for all people, immunocompetent or immunodeficient. Not only are these activities good for the body, they are good for the mind, as well. Regular exercise is an excellent stress and anxiety reducer. […] Getting an adequate amount of sleep is an essential requirement for good health. Most scientists recommend a consistent number of hours of sleep per night and consistent bed times and waking times, as well. […] A healthy diet provides nutrients essential for normal growth and development, body repair and maintenance. Make sure you eat well.

• #88 Primary immunodeficiency – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/symptoms-causes/syc-20376905

  Practice good hygiene. Wash your hands with mild soap after using the toilet and before eating. […] Take care of your teeth. Brush your teeth at least twice a day. […] Eat right. A healthy, balanced diet can help prevent infections. […] Be physically active. Staying fit is important to your overall health. Ask your doctor what activities are appropriate for you. […] Get enough sleep. Try to go to sleep and get up at the same time daily, and get the same number of hours of sleep every night. […] Manage stress. Some studies suggest that stress can hamper your immune system. Keep stress in check with massage, meditation, yoga, biofeedback or hobbies. Find what works for you. […] Avoid exposure. Stay away from people with colds or other infections and avoid crowds. […] Ask your doctor about vaccinations. Find out which ones you should have.

• #89 Minimizing Exposure to Illness & Infection – IgCares PI Education

  https://igcares.com/home/education-minimize-exposure.html

  Proactive, consistent self-care is a great way to help your body avoid susceptibility to infection and illness. Here are a few common sense recommendations: […] A healthy life style always includes exercise. Physical activity should be encouraged for all people, immunocompetent or immunodeficient. Not only are these activities good for the body, they are good for the mind, as well. Regular exercise is an excellent stress and anxiety reducer. […] Getting an adequate amount of sleep is an essential requirement for good health. Most scientists recommend a consistent number of hours of sleep per night and consistent bed times and waking times, as well. […] A healthy diet provides nutrients essential for normal growth and development, body repair and maintenance. Make sure you eat well.

• #90 General care | Immune Deficiency Foundation

  https://primaryimmune.org/living-primary-immunodeficiency/general-care

  A primary immunodeficiency (PI) diagnosis is a milestone along the journey for answers, and the beginning of the journey to manage the condition. Some lifestyle changes may be necessary, but most people with PI can lead full lives. […] Proper hygiene is crucial for people with PI and their families to prevent exposure to germs and infections. This involves regular bathing, and hand washing using soap and hot water for at least 20 seconds. Regular dental visits, proper brushing, and flossing are also important to prevent tooth decay and related complications. […] Stress has been scientifically linked to increased susceptibility to illness, especially for those with PI. Reducing stress improves immune function. […] Exercise is essential for maintaining a healthy lifestyle, regardless of immune status. […] Visiting a primary care provider regularly is crucial for good health, especially for people with PI. […] The key to managing PI is adopting a healthy lifestyle and complying with your healthcare team’s recommendations for treatment.

• #91 Primary immunodeficiency – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/symptoms-causes/syc-20376905

  Practice good hygiene. Wash your hands with mild soap after using the toilet and before eating. […] Take care of your teeth. Brush your teeth at least twice a day. […] Eat right. A healthy, balanced diet can help prevent infections. […] Be physically active. Staying fit is important to your overall health. Ask your doctor what activities are appropriate for you. […] Get enough sleep. Try to go to sleep and get up at the same time daily, and get the same number of hours of sleep every night. […] Manage stress. Some studies suggest that stress can hamper your immune system. Keep stress in check with massage, meditation, yoga, biofeedback or hobbies. Find what works for you. […] Avoid exposure. Stay away from people with colds or other infections and avoid crowds. […] Ask your doctor about vaccinations. Find out which ones you should have.

• #92 Primary immunodeficiency diseases (PIDD) – Children’s Health Immunology

  https://www.childrens.com/specialties-services/conditions/primary-immunodeficiency

  Most primary immunodeficiency diseases (PIDDs) are diagnosed in infancy or early childhood. Most of the 150 or so different types of PIDDs are rare, affecting around 200,000 people in the United States. Although the risk of serious infections is high in children with a PIDD, most can go to school and lead relatively normal lives. […] Treatments include preventing and managing infections, boosting the immune system and addressing the underlying deficiency. […] Keeping a child with PIDD healthy may involve avoiding contact with sick people, frequent hand washing and feeding your child a healthy diet. Vaccinations can help prevent certain kinds of illnesses as well. It is also important not to compromise your child’s immune system with pollutants such as cigarette smoke. […] Antibiotics are usually used to treat infections caused by bacteria. If the infection doesn’t respond to typical medications, your child may need intravenous antibiotics in a hospital. Other medications, such as pain relievers, decongestants or expectorants, can help with various symptoms as well.

• #93 Frontiers | Family Physician Perspectives on Primary Immunodeficiency Diseases

  https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2016.00012/full

  The most commonly ordered diagnostic tests in pursuit of a PID diagnosis among PCP family practice physicians included quantitative serum Ig (84%), serum immunoelectrophoresis (65%), and a complete blood count with manual differential (62%). […] A small proportion (5%) of family practice physicians reported being the primary treatment provider for patients with PID. Replacement therapy with various intravenously (IV)- and subcutaneously (SC)-administered preparations of Ig (IVIG and SCIG, respectively) is approved by the United States Food and Drug Administration and commonly used for the treatment of patients with PID. […] Family practice physicians recommended avoidance of live vaccines across a variety of PIDs. Significantly, more subspecialist immunologists than family practice physicians recommended avoidance of live viral vaccines for DiGeorge syndrome (61 vs. 26%, P < 0.05), hyper IgM (52 vs. 17%, P < 0.05), and Wiskott–Aldrich syndrome (57 vs. 23%, P < 0.05).

• #94 Frontiers | Family Physician Perspectives on Primary Immunodeficiency Diseases

  https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2016.00012/full

  The most commonly ordered diagnostic tests in pursuit of a PID diagnosis among PCP family practice physicians included quantitative serum Ig (84%), serum immunoelectrophoresis (65%), and a complete blood count with manual differential (62%). […] A small proportion (5%) of family practice physicians reported being the primary treatment provider for patients with PID. Replacement therapy with various intravenously (IV)- and subcutaneously (SC)-administered preparations of Ig (IVIG and SCIG, respectively) is approved by the United States Food and Drug Administration and commonly used for the treatment of patients with PID. […] Family practice physicians recommended avoidance of live vaccines across a variety of PIDs. Significantly, more subspecialist immunologists than family practice physicians recommended avoidance of live viral vaccines for DiGeorge syndrome (61 vs. 26%, P < 0.05), hyper IgM (52 vs. 17%, P < 0.05), and Wiskott–Aldrich syndrome (57 vs. 23%, P < 0.05).

• #95

  https://www.healio.com/news/allergy-asthma/primary-immunodeficiency-disease

  Patients who are immunocompromised still can receive a variety of vaccinations based on their specific needs, Cassandra Calabrese, DO, said during her presentation at Updates in Primary Immunodeficiency 2025. […] Artificial intelligence can improve care for patients with primary immunodeficiencies, but human input is still necessary, Nicholas L. Rider, DO, said at Updates in Primary Immunodeficiency 2025. […] Primary immunodeficiencies are not as rare as they used to be, James Fernandez, MD, PhD, told Healio, and practicing allergist-immunologists need to be prepared to diagnose and treat them, often in collaboration with other specialists. […] Genetic testing can play a positive role and help improve outcomes in managing immunodeficiencies, according to a presentation at the American College of Allergy, Asthma Immunology Annual Scientific Meeting. […] Patients with primary immunodeficiencies experience an average of 9 to 15 years between the onset of their symptoms to diagnosis of their disorder and treatment that could save their lives, according to the Immune Deficiency Foundation.

• #96 Evaluation of Primary Immunodeficiency Disease in Children | AAFP

  https://www.aafp.org/pubs/afp/issues/2013/0601/p773.html

  HIV infection should be considered in newborns and adolescents who present with diarrhea, failure to thrive, and unusual opportunistic infections. […] A complete blood count with differential should be obtained to screen for a T-cell or phagocytic disorder. […] Patients with B-cell disorders have low serum immunoglobulin levels and decreased production or response of immunoglobulins to vaccination. […] Complement disorders are screened by checking the components of the classic and alternative pathways. […] In 2010, the U.S. Department of Health and Human Services recommended routine screening for SCID in newborns.

• #97 Primary immunodeficiency – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/symptoms-causes/syc-20376905

  Practice good hygiene. Wash your hands with mild soap after using the toilet and before eating. […] Take care of your teeth. Brush your teeth at least twice a day. […] Eat right. A healthy, balanced diet can help prevent infections. […] Be physically active. Staying fit is important to your overall health. Ask your doctor what activities are appropriate for you. […] Get enough sleep. Try to go to sleep and get up at the same time daily, and get the same number of hours of sleep every night. […] Manage stress. Some studies suggest that stress can hamper your immune system. Keep stress in check with massage, meditation, yoga, biofeedback or hobbies. Find what works for you. […] Avoid exposure. Stay away from people with colds or other infections and avoid crowds. […] Ask your doctor about vaccinations. Find out which ones you should have.

• #98

  https://www.nursingcenter.com/cearticle?an=00152193-202305000-00006&Journal_ID=54016&Issue_ID=6648474

  Nurses must teach the patient and their family that an interprofessional approach is necessary and includes physicians, advanced practice clinicians (APCs), nurses, physical therapists, occupational therapists, counselors, dietitians, and school teachers. […] PID causes various severe infections that may include dermatitis, eczema, gastrointestinal syndromes, autoimmunity, and malignancy. Early immunologic screening is warranted when immunodeficiency is suspected and aggressive treatment instituted to achieve the best outcomes.

• #99 Primary Immunodeficiency | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/primary-immunodeficiency

  Primary immunodeficiency disorders (PIDDs) are a group of inherited conditions affecting the immune system, due to a lack of, or dysfunction of white blood cells, which have important roles in fighting infections. […] It’s important to remember that this disorder it is caused by genes, and is not due to anything you or your child has or has not done. More importantly, with early diagnosis and aggressive treatment, your child has an excellent chance to continue to live an active, productive life. […] The Clinical Immunology Program takes a multidisciplinary approach to care that ensures your child will be given thoughtful consideration of every treatment possibility. Our team integrates expertise from immunologists, infectious disease specialists hematologist-oncologists and others. We work together to diagnose, manage and treat children with PIDDs.

• #100 Primary Immunodeficiency Disorders (PIDD) | UVA Health

  https://uvahealth.com/services/allergy/pidd

  Primary immunodeficiency disorders (PIDD) affect the immune system. […] Treatment: You’ll most likely need medication specific to your unique situation. Since the process to obtain these medications can be complex and difficult to manage, we have a dedicated team to help you get what you need. […] Regular follow-up visits: We’ll need to see you regularly to monitor your health and evaluate the success of the medication. We’ll make treatment adjustments as needed and watch for any changes or complications of your disease. […] The PIDD care team at our clinic includes doctors, nurses, nurse coordinator, lab technicians and genetic counselors.

• #101

  https://www.advocatechildrenshospital.com/services/primary-immunodeficiency-disease-pidd

  Advocate Childrens Hospital features staff with extensive awareness and knowledge of PI disease. Working together and meeting monthly to determine the best course of treatment for each child with PI disease, our exceptional team includes pediatric immunologists, pediatric infectious disease specialists, and child psychologists. […] Although primary immunodeficiency diseases are genetic and cannot be prevented, parents can take steps to prevent their children with weakened immune systems from getting infections.

• #102 Primary Immunodeficiency Diseases | Duke Health

  https://www.dukehealth.org/pediatric-treatments/pediatric-allergy-and-immunology/primary-immunodeficiency-diseases

  Duke Children’s provides lifelong, coordinated care for children with primary immunodeficiency disease. […] Your child has access to specialized lab testing, which is used to diagnose different primary immune deficiency conditions. […] We achieve this high level of care by providing services not available at other hospitals.

• #103

  https://www.advocatechildrenshospital.com/services/primary-immunodeficiency-disease-pidd

  Advocate Childrens Hospital features staff with extensive awareness and knowledge of PI disease. Working together and meeting monthly to determine the best course of treatment for each child with PI disease, our exceptional team includes pediatric immunologists, pediatric infectious disease specialists, and child psychologists. […] Although primary immunodeficiency diseases are genetic and cannot be prevented, parents can take steps to prevent their children with weakened immune systems from getting infections.

• #104

  https://link.springer.com/article/10.1007/s10875-017-0401-y

  Management decisions for patients with PIDs need to be based more and more on all three aspects of diagnosis—the clinical presentation, an understanding of the patients immune function test results, and the underlying genetic defect. […] Currently, in most cases, management decisions will be led by the clinical presentation. […] This may involve the use of anti-infectious prophylaxis and the aggressive treatment of infections; however, for most patients with antibody deficiency, the cornerstone of therapy is immunoglobulin replacement therapy, the goal of which is to prevent most infections. […] Many studies show that immunoglobulin replacement therapy significantly reduces the rate of acute and chronic infection and greatly improves survival. […] Therefore, an improved understanding of the immunopathological and genetic defects in PIDs is key and will help to shed light on potential new targets and the possible role of immune-modifying agents in the future management of PIDs, autoimmune diseases and other closely linked conditions involving immune dysregulation, malignancy, and inflammation.

• #105 Striking the Right Balance: Shared Decision-Making in Primary Immunodeficiency Care

  https://www.hcplive.com/view/striking-the-right-balance-shared-decision-making-in-primary-immunodeficiency-care

  A recent Harris poll survey of 104 PI patients sponsored by CSL Behring found that 94% of PI patients surveyed agree that flexibility and options are important in personalizing Ig treatment. […] If a patient prioritizes flexibility and convenience, we may need to discuss whether they are candidates for subcutaneous immune globulin (SCIg), like Hizentra, which allow PI patients to self-infuse in the comfort of their home and on a schedule that is convenient for them. […] I believe we need to give patients the time and tools to make an informed decision and allow them to explore their options. […] I firmly believe that physicians must work in tandem with patients to align on a treatment plan. […] PI patients have a number of choices when it comes to treatment, but the thing I like to point out is whether we are talking about IVIg or SCIg, all Ig products approved by the FDA for treatment of PI meet certain standards in terms of efficacy.

• #106 Illuminating Healthcare Disparities in Primary Immunodeficiency Disease: Practice Points for Combatting Care Gaps

  https://www.medscape.org/viewarticle/990065

  Less research has been conducted on health disparities for PIDD than on other types of immunological diseases, but there is evidence of worse outcomes for certain groups, such as Black and Hispanic people. […] Racial minorities are more likely to live in medically underserved areas that have longer wait times and issues such as limited access to subspecialty care. […] Primary care clinicians, whether they are physicians, nurse practitioners, or physician assistants, can and do provide many of the immunology referrals for these populations. […] Clinicians can also advocate for individual patients in their care. […] Patient-guided care also has enormous potential to improve HRQoL in PIDD patients overall. […] The most important thing is listening to the patient and allowing them to have some control over their care. […] PIDD is more common than one might think. Our patients will benefit from caring clinicians remaining alert to the warning signs and providing referrals to immunology for suspected cases.

• #107

  https://rsdjournal.org/index.php/rsd/article/view/29793

  Introduction: The Primary Immunodeficiency Diseases comprise more than 400 disorders of the immune system, are rare and associated with abnormal development of immune system cells. […] Objective: To analyze how nursing care for patients with primary immunodeficiency in health systems is described in the scientific literature. […] Results: Nine publications were selected. Descriptive studies predominated, with the qualitative approach being the most prevalent. […] Discussion: Nursing has numerous nursing attributions in this scenario, such as: performing actions before, during and after immunoglobulin infusion; informing and supporting family members/caregivers; be aware of the patient’s social context; promote self-care; prevent and control infections related to health care and encourage adherence to treatment, among other attributions. […] Conclusion: It is possible to acknowledge the need for trained professionals with scientific knowledge to correctly guide and offer quality care to patients with PID. In addition, further studies are needed on the role of nursing in this scenario, aiming at the propagation of knowledge.

• #108 Primary Immunodeficiency Disorders Program | Programs | Boston Children’s Hospital

  https://www.childrenshospital.org/programs/primary-immunodeficiency-disorders-program

  The Primary Immunodeficiency Disorders Program at Boston Childrens Hospital is a leader in the biology, diagnosis, and management of a broad range of immune system disorders. […] As part of the Immunology Program at Boston Childrens, our multidisciplinary team of experts work together to provide the best treatment and care for each child. […] We are also involved in organizations that support children with primary immunodeficiency diseases and their families ? organizations such as the Immune Deficiency Foundation, the National Primary Immunodeficiency Resource Center, and the New England Primary Immunodeficiency Network.

• #109 Primary immunodeficiency diseases: Practice among primary care providers and awareness among the general public, United States, 2008 | Genetics in Medicine

  https://www.nature.com/articles/gim2010131

  Early PIDD diagnosis requires recognition of herald symptoms of frequent or severe infection not only by physicians and other health care practitioners but also by well-educated patients and parents or other family members. […] The impact of early recognition has been highlighted by the recent recommendation for the addition of severe combined immune deficiency to the uniform newborn screening panel by the Secretary’s Advisory Committee for Heritable Disorders in Newborns and Children. […] In the case of PIDD, educational seminars for patients, families, and health care professionals have been sponsored by foundations such as the Jeffrey Modell Foundation (JMF) and the Immune Deficiency Foundation. […] The JMF also established Centers of Excellence in the United States and abroad for the diagnosis and treatment of PIDD.

• #110 Primary immunodeficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/primary-immunodeficiency

  Most people with primary immunodeficiency can go to school and work like everyone else. Still, you might feel as if no one understands what it’s like to live with the constant threat of infections. Talking to someone who faces similar challenges may help. […] Ask your doctor if there are support groups in the area for people with primary immunodeficiency or for parents of children with the disease. The Immune Deficiency Foundation has a peer support program as well as information on living with primary immunodeficiency.

• #111 Primary Immunodeficiency Disease (PIDD): List, Symptoms & Treatment

  https://www.medicinenet.com/primary_immunodeficiency_disease_pidd/article.htm

  Many patients and families find it helpful to talk to another affected family or participate in a support group. […] You also can help your child take steps to avoid as many infections as possible, including good hygiene practices, avoiding exposure to contagious illness, and ensuring that he or she receives all appropriate childhood, adolescent, and adult vaccinations. […] Maintaining a healthy diet and getting adequate exercise and sleep also can help the body fight infections. […] Because most cases of primary immunodeficiency disease result from an inherited gene defect, there is no way to prevent their occurrence. […] Many children and adults with primary immunodeficiency disease can attend a school or work and maintain productive lives. […] The Immune Deficiency Foundation offers a number of support and educational resources, including peer support programs.

• #112 Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00662-6

  The JMCN was developed by JMF to meet the rising need for specialized centers to accommodate the increasing patient population and to create the infrastructure needed to promote research, early diagnosis, and proper treatment. […] The considerable growth in patients can likely be attributed to newborn screening, education and awareness activities, molecular diagnosis, and increased availability of genetic diagnostics including NGS platforms. […] Early recognition of PI results in annual estimated savings to the healthcare system (US-based) for each diagnosed patient of $97,488. Even when accounting for diagnosed patients receiving IgG, annual estimated savings to the healthcare system is remarkable, at $87,888. […] The SPIRIT Analyzer identifies at-risk patients by matching 352 ICD-10 codes to JMFs 10 Warning Signs of PI.

• #113 Primary Immune Deficiencies – Principles of Care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4266088/

  Primary immune deficiencies (PIDs) are a growing group of over 230 different disorders caused by ineffective, absent or an increasing number of gain of function mutations in immune components, mainly cells and proteins. Once recognized, these rare disorders are treatable and in some cases curable. Otherwise untreated PIDs are often chronic, serious, or even fatal. The diagnosis of PIDs can be difficult due to lack of awareness or facilities for diagnosis, and management of PIDs is complex. This document was prepared by a worldwide multi-disciplinary team of specialists; it aims to set out comprehensive principles of care for PIDs. These include the role of specialized centers, the importance of registries, the need for multinational research, the role of patient organizations, management and treatment options, the requirement for sustained access to all treatments including immunoglobulin therapies and hematopoietic stem cell transplantation, important considerations for developing countries and suggestions for implementation. A range of healthcare policies and services have to be put into place by government agencies and healthcare providers, to ensure that PID patients worldwide have access to appropriate and sustainable medical and support services.

• #114 Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00662-6

  The initiation of SCID newborn screening programs, improvements in diagnostics, and advancements in genomic technologies over the past few decades have allowed for better prevalence estimates and have resulted in improved comprehension of PI and the causal mechanisms leading to monogenic defects of the immune system. […] The JMCN serves as a longstanding and growing platform for collaboration and cutting-edge research, with coordinated and open access to expert immunologists, to promote further meaningful advancements in the field of PI, including gene discovery.

• #115

  https://link.springer.com/article/10.1007/s10875-017-0401-y

  Combined immunodeficiencies are not sufficiently treated by antibody replacement and some patients may require hematopoietic stem cell transplantation (HSCT). […] The ongoing needs of children with PID depend on their underlying condition and previous management. […] Transition planning and transition pathways therefore need to take into account the multiple aspects of maturation along with the social and personal changes that will affect the diagnosis, treatment, treatment compliance, and autonomy of the future adult with PID. […] Appropriate guidance and support during transition and regarding different options for treatment and care are essential to promote and sustain good and acceptable compliance with long-term management plans. […] Thus a number of challenges still remain, with many PID patients still facing protracted times to diagnosis and requiring lifelong chronic treatment rather than having curative options. […] Nevertheless, the long-term outcomes of PID patients have improved greatly in recent decades, such that many patients now survive longer and require new support paradigms as they age and mature.

• #116 Illuminating Healthcare Disparities in Primary Immunodeficiency Disease: Practice Points for Combatting Care Gaps

  https://www.medscape.org/viewarticle/990065

  This activity is intended for clinical immunologists, primary care clinicians, nurse practitioners, physician assistants, and pediatricians. […] The goal of this activity is for learners to be better able to improve understanding of disparities in the diagnosis and treatment of primary immunodeficiencies to improve patient outcomes and reduce health inequities. […] Delivering patient-centered PI care in an interprofessional environment. […] The first major hurdle is simply recognition of a primary immunodeficiency. Existing projections estimate that up to 70% to 90% of patients with PIDD remain undiagnosed. […] Signs of PIDD in adults may not always be recognized by primary care clinicians, and there can be hesitancy to refer patients to immunologists for further testing. […] Many patients referred to our immunology practice don’t end up having an immunodeficiency.

• #117

  https://www.healio.com/news/allergy-asthma/primary-immunodeficiency-disease

  Patients who are immunocompromised still can receive a variety of vaccinations based on their specific needs, Cassandra Calabrese, DO, said during her presentation at Updates in Primary Immunodeficiency 2025. […] Artificial intelligence can improve care for patients with primary immunodeficiencies, but human input is still necessary, Nicholas L. Rider, DO, said at Updates in Primary Immunodeficiency 2025. […] Primary immunodeficiencies are not as rare as they used to be, James Fernandez, MD, PhD, told Healio, and practicing allergist-immunologists need to be prepared to diagnose and treat them, often in collaboration with other specialists. […] Genetic testing can play a positive role and help improve outcomes in managing immunodeficiencies, according to a presentation at the American College of Allergy, Asthma Immunology Annual Scientific Meeting. […] Patients with primary immunodeficiencies experience an average of 9 to 15 years between the onset of their symptoms to diagnosis of their disorder and treatment that could save their lives, according to the Immune Deficiency Foundation.

• #118

  https://www.healio.com/news/allergy-asthma/primary-immunodeficiency-disease

  Patients who are immunocompromised still can receive a variety of vaccinations based on their specific needs, Cassandra Calabrese, DO, said during her presentation at Updates in Primary Immunodeficiency 2025. […] Artificial intelligence can improve care for patients with primary immunodeficiencies, but human input is still necessary, Nicholas L. Rider, DO, said at Updates in Primary Immunodeficiency 2025. […] Primary immunodeficiencies are not as rare as they used to be, James Fernandez, MD, PhD, told Healio, and practicing allergist-immunologists need to be prepared to diagnose and treat them, often in collaboration with other specialists. […] Genetic testing can play a positive role and help improve outcomes in managing immunodeficiencies, according to a presentation at the American College of Allergy, Asthma Immunology Annual Scientific Meeting. […] Patients with primary immunodeficiencies experience an average of 9 to 15 years between the onset of their symptoms to diagnosis of their disorder and treatment that could save their lives, according to the Immune Deficiency Foundation.

• #119 Frontiers | Family Physician Perspectives on Primary Immunodeficiency Diseases

  https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2016.00012/full

  Family practice physicians comprise a primary care specialty that provides comprehensive care to both adult and pediatric patients. Further understanding of the medical training and practice among family practice physicians with regards to the diagnosis and treatment of PID may reveal areas for educational initiatives to improve awareness and ultimately identification of patients with the disease. […] A substantial gap exists in the awareness of professional guidelines for the diagnosis and management of PID between family practice physicians and subspecialist immunologists. Four percent of family practice physicians were aware of these guidelines, compared with 79% of subspecialist immunologists (P < 0.05). [...] The majority (77%) of family practice physicians reported that they were not at all comfortable with recognizing and diagnosing PID, and none indicated complete comfort in recognizing and diagnosing among the group of disorders.

• #120 eCommons@AKU

  https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/946/

  Primary Immunodeficiency Disorders (PIDs) are well-known disorders in the West. but the recognition and diagnosis of these disorders is challenging in developing countries. […] PIDs are not uncommon in Pakistan; their diagnosis may be missed or delayed due to the overlapping of clinical features of PID with other diseases and a lack of diagnostic facilities. There is a need to build capacity for early recognition and diagnosis of PIDs to decrease morbidity and mortality.

• #121 Primary Immune Deficiencies – Principles of Care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4266088/

  Access to specialist care is a problem in many countries. Diagnosis of PIDs is often delayed, resulting in unnecessary complications, and appropriate management is suboptimal or even unavailable, especially in less developed regions. Access to early diagnosis and specialist care ensures the best health outcomes not only for the individual but also for society. […] Early diagnosis shortens diagnostic delay that is distressing to the family, damaging to the patient and wasteful of health-care resources. […] The key principle goal of Ig replacement therapy is to prevent bacterial infections and avoid organ damage that leads to chronic disease and poor quality of life. Infection prevention rather than a targeted serum IgG level is the goal of Ig replacement therapy as the protective serum IgG level varies with individual patients.

• #122 Frontiers | Family Physician Perspectives on Primary Immunodeficiency Diseases

  https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2016.00012/full

  Family practice physicians comprise a primary care specialty that provides comprehensive care to both adult and pediatric patients. Further understanding of the medical training and practice among family practice physicians with regards to the diagnosis and treatment of PID may reveal areas for educational initiatives to improve awareness and ultimately identification of patients with the disease. […] A substantial gap exists in the awareness of professional guidelines for the diagnosis and management of PID between family practice physicians and subspecialist immunologists. Four percent of family practice physicians were aware of these guidelines, compared with 79% of subspecialist immunologists (P < 0.05). [...] The majority (77%) of family practice physicians reported that they were not at all comfortable with recognizing and diagnosing PID, and none indicated complete comfort in recognizing and diagnosing among the group of disorders.

• #123 Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00662-6

  The JMCN was developed by JMF to meet the rising need for specialized centers to accommodate the increasing patient population and to create the infrastructure needed to promote research, early diagnosis, and proper treatment. […] The considerable growth in patients can likely be attributed to newborn screening, education and awareness activities, molecular diagnosis, and increased availability of genetic diagnostics including NGS platforms. […] Early recognition of PI results in annual estimated savings to the healthcare system (US-based) for each diagnosed patient of $97,488. Even when accounting for diagnosed patients receiving IgG, annual estimated savings to the healthcare system is remarkable, at $87,888. […] The SPIRIT Analyzer identifies at-risk patients by matching 352 ICD-10 codes to JMFs 10 Warning Signs of PI.

• #124 Primary Immune Deficiencies – Principles of Care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4266088/

  Access to specialist care is a problem in many countries. Diagnosis of PIDs is often delayed, resulting in unnecessary complications, and appropriate management is suboptimal or even unavailable, especially in less developed regions. Access to early diagnosis and specialist care ensures the best health outcomes not only for the individual but also for society. […] Early diagnosis shortens diagnostic delay that is distressing to the family, damaging to the patient and wasteful of health-care resources. […] The key principle goal of Ig replacement therapy is to prevent bacterial infections and avoid organ damage that leads to chronic disease and poor quality of life. Infection prevention rather than a targeted serum IgG level is the goal of Ig replacement therapy as the protective serum IgG level varies with individual patients.

• #125 Illuminating Healthcare Disparities in Primary Immunodeficiency Disease: Practice Points for Combatting Care Gaps

  https://www.medscape.org/viewarticle/990065

  Less research has been conducted on health disparities for PIDD than on other types of immunological diseases, but there is evidence of worse outcomes for certain groups, such as Black and Hispanic people. […] Racial minorities are more likely to live in medically underserved areas that have longer wait times and issues such as limited access to subspecialty care. […] Primary care clinicians, whether they are physicians, nurse practitioners, or physician assistants, can and do provide many of the immunology referrals for these populations. […] Clinicians can also advocate for individual patients in their care. […] Patient-guided care also has enormous potential to improve HRQoL in PIDD patients overall. […] The most important thing is listening to the patient and allowing them to have some control over their care. […] PIDD is more common than one might think. Our patients will benefit from caring clinicians remaining alert to the warning signs and providing referrals to immunology for suspected cases.

• #126 JMIR Research Protocols – Reducing Delays in Diagnosing Primary Immunodeficiency Through the Development and Implementation of a Clinical Decision Support Tool: Protocol for a Quality Improvement Project

  https://www.researchprotocols.org/2022/1/e32635/

  Primary immunodeficiencies (PIs) are a set of heterogeneous chronic disorders characterized by immune dysfunction. They are diagnostically challenging because of their clinical heterogeneity, knowledge gaps among primary care physicians, and continuing shortages of clinically trained immunologists. As a result, patients with undiagnosed PIs are at increased risk for recurrent infections, cancers, and autoimmune diseases. […] The aim of this research is to develop and implement a clinical decision support (CDS) tool for the identification of underlying PIs. […] The objective of this study is to develop and implement a clinical decision support (CDS) tool for identifying patients with an underlying PI. […] This CDS tool will enable primary care providers within the University of Iowa to refer patients to the University of Iowa’s Immunology Clinic, and guide laboratory investigations prior to referral to ensure readiness prior to the visit.

• #127 JMIR Research Protocols – Reducing Delays in Diagnosing Primary Immunodeficiency Through the Development and Implementation of a Clinical Decision Support Tool: Protocol for a Quality Improvement Project

  https://www.researchprotocols.org/2022/1/e32635/

  The primary measure is the number of newly diagnosed PI patients per month. […] We will also measure the following five secondary measures: Number of new patients identified by the CDS tool as being at high risk for PI. […] We will conduct semistructured interviews and surveys to obtain the Voice of the Customer. […] The average wait time to a new appointment is 5.46 weeks for adults and 13.16 weeks for pediatric patients. […] We anticipate a series of challenges and have a comprehensive strategy to address these challenges as they arise.

• #128 Illuminating Healthcare Disparities in Primary Immunodeficiency Disease: Practice Points for Combatting Care Gaps

  https://www.medscape.org/viewarticle/990065

  Less research has been conducted on health disparities for PIDD than on other types of immunological diseases, but there is evidence of worse outcomes for certain groups, such as Black and Hispanic people. […] Racial minorities are more likely to live in medically underserved areas that have longer wait times and issues such as limited access to subspecialty care. […] Primary care clinicians, whether they are physicians, nurse practitioners, or physician assistants, can and do provide many of the immunology referrals for these populations. […] Clinicians can also advocate for individual patients in their care. […] Patient-guided care also has enormous potential to improve HRQoL in PIDD patients overall. […] The most important thing is listening to the patient and allowing them to have some control over their care. […] PIDD is more common than one might think. Our patients will benefit from caring clinicians remaining alert to the warning signs and providing referrals to immunology for suspected cases.

• #129 IVIG for Primary Immunodeficiency: Mechanism, Benefits, and Cost – AmeriPharma® Specialty Care

  https://ameripharmaspecialty.com/ivig/ivig-for-primary-immunodeficiency-mechanism-benefits-and-cost/

  The starting IVIG dose for PI is 400 – 600 mg/kg every 3 to 4 weeks. Repeated doses at regular intervals are necessary because the body uses up externally administered antibodies for normal bodily processes. Since IVIG doesn’t stimulate the immune system, constant replenishment, usually for a lifetime, is essential. […] IVIG products have no absolute contraindications. Yet, they must be avoided or used with caution in certain situations. […] If you have heart disease or high blood pressure, use caution and monitor closely when taking products high in sodium. […] The amount you pay for IVIG treatment can vary, depending on your insurance plan, geographical location, and pharmacy.

• #130 Primary Immune Deficiencies – Principles of Care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4266088/

  Access to specialist care is a problem in many countries. Diagnosis of PIDs is often delayed, resulting in unnecessary complications, and appropriate management is suboptimal or even unavailable, especially in less developed regions. Access to early diagnosis and specialist care ensures the best health outcomes not only for the individual but also for society. […] Early diagnosis shortens diagnostic delay that is distressing to the family, damaging to the patient and wasteful of health-care resources. […] The key principle goal of Ig replacement therapy is to prevent bacterial infections and avoid organ damage that leads to chronic disease and poor quality of life. Infection prevention rather than a targeted serum IgG level is the goal of Ig replacement therapy as the protective serum IgG level varies with individual patients.

• #131 IVIG for Primary Immunodeficiency: Mechanism, Benefits, and Cost – AmeriPharma® Specialty Care

  https://ameripharmaspecialty.com/ivig/ivig-for-primary-immunodeficiency-mechanism-benefits-and-cost/

  The starting IVIG dose for PI is 400 – 600 mg/kg every 3 to 4 weeks. Repeated doses at regular intervals are necessary because the body uses up externally administered antibodies for normal bodily processes. Since IVIG doesn’t stimulate the immune system, constant replenishment, usually for a lifetime, is essential. […] IVIG products have no absolute contraindications. Yet, they must be avoided or used with caution in certain situations. […] If you have heart disease or high blood pressure, use caution and monitor closely when taking products high in sodium. […] The amount you pay for IVIG treatment can vary, depending on your insurance plan, geographical location, and pharmacy.

• #132 Primary Immune Deficiencies – Principles of Care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4266088/

  Primary immune deficiencies (PIDs) are a growing group of over 230 different disorders caused by ineffective, absent or an increasing number of gain of function mutations in immune components, mainly cells and proteins. Once recognized, these rare disorders are treatable and in some cases curable. Otherwise untreated PIDs are often chronic, serious, or even fatal. The diagnosis of PIDs can be difficult due to lack of awareness or facilities for diagnosis, and management of PIDs is complex. This document was prepared by a worldwide multi-disciplinary team of specialists; it aims to set out comprehensive principles of care for PIDs. These include the role of specialized centers, the importance of registries, the need for multinational research, the role of patient organizations, management and treatment options, the requirement for sustained access to all treatments including immunoglobulin therapies and hematopoietic stem cell transplantation, important considerations for developing countries and suggestions for implementation. A range of healthcare policies and services have to be put into place by government agencies and healthcare providers, to ensure that PID patients worldwide have access to appropriate and sustainable medical and support services.

• #133 New center to focus on primary immunodeficiency disorder | News Center

  https://med.stanford.edu/news/all-news/2003/04/new-center-to-focus-on-primary-immunodeficiency-disorder.html

  Treatments vary according to the type of immunodeficiency: Children who lack the functional B cells necessary to make disease-fighting antibodies receive infusions of antibody substitutes such as intravenous gamma globulin; those with more severe immunodeficiencies, such as those involving T cells, may need to undergo a hematopoetic stem cell transplantation to reconstitute their entire immune system. […] 'I’m concerned that we may be missing some children with primary immunodeficiency, particularly in the Central Valley,’ said Lewis. 'We’re hoping to reach out to the Hispanic community and minorities where we feel these diseases may be underdiagnosed.’ […] The inherited nature of the disorders also means that they can vary in severity, making diagnosis trickier but no less important. 'We think there are quite a few children who have very mild disorders that are the result of partial genetic defects,’ said Lewis. 'In most cases, these have not been looked for in a systematic way.’

• #134 Primary Immune Deficiencies – Principles of Care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4266088/

  Immunoglobulin replacement therapy is absolutely essential for the treatment of the majority of patients with a PID. There are a variety of IgG products currently marketed worldwide. Each new product undergoes clinical trials to establish efficacy (protection from infection), safety (no disease transmission or seriously harmful adverse events), and tolerability (minimal side effects) before it can be sold. […] Hematopoietic stem cell transplantation (from blood or bone marrow) is the only cure for severe, otherwise fatal PIDs that present in infancy or early childhood and all SCID children should have access to this life-saving therapy, regardless of where they live. […] To replace missing antibodies, the antibody deficiency patients need Ig on a regular basis for the duration of their lives. Although initial treatments are started under supervision in a day care facility with experienced staff, once stable, patients can either self-treat or be treated at the local hospital or health-care center. There still needs to be regular contact with the specialist immunology nurses and both easy access to and regular follow-up by the PID doctor, since complications can occur later and significant damage from infection or chronic inflammation, particularly for children or adults who are diagnosed late, needs to be monitored.

• #135 Primary immunodeficiency diseases: Practice among primary care providers and awareness among the general public, United States, 2008 | Genetics in Medicine

  https://www.nature.com/articles/gim2010131

  When PIDD is suspected, recommended initial laboratory testing includes a complete blood count with differential, quantitative immunoglobulins, and often specific antibody measurements. If testing indicates the presence of an immunodeficiency, or a strong clinical suspicion remains, the patient should be referred to a clinical immunologist. […] Additional PIDD educational efforts that target both health care providers and the general public may be warranted. Increased awareness of PIDD along with incorporation of best practices for treating individuals with suspected PIDD is one way of improving recognition of these disorders, reducing morbidity, and enhancing the quality of life.

• #136 Frontiers | Family Physician Perspectives on Primary Immunodeficiency Diseases

  https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2016.00012/full

  The present survey underscores the opportunity to improve education and training initiatives during medical school and in residency. Because notable differences exist in the way family practice physicians and general or subspecialist immunologists diagnose and manage patients with PID, it is relevant to continue efforts to increase awareness surrounding PID.

• #137 Frontiers | Family Physician Perspectives on Primary Immunodeficiency Diseases

  https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2016.00012/full

  Family practice physicians comprise a primary care specialty that provides comprehensive care to both adult and pediatric patients. Further understanding of the medical training and practice among family practice physicians with regards to the diagnosis and treatment of PID may reveal areas for educational initiatives to improve awareness and ultimately identification of patients with the disease. […] A substantial gap exists in the awareness of professional guidelines for the diagnosis and management of PID between family practice physicians and subspecialist immunologists. Four percent of family practice physicians were aware of these guidelines, compared with 79% of subspecialist immunologists (P < 0.05). [...] The majority (77%) of family practice physicians reported that they were not at all comfortable with recognizing and diagnosing PID, and none indicated complete comfort in recognizing and diagnosing among the group of disorders.

• #138

  https://www.clevelandclinicmeded.com/live/courses/immunodeficiency/

  Join us for the inaugural Updates in Primary Immunodeficiency CME symposium. This course provides an educational forum for faculty to deliver in-depth reviews of common and rare inborn errors of immunity (IEI), a group of more than 400 complex, chronic disorders. […] After completing this educational activity, participants will be able to do the following: […] Provide effective diagnostic and management strategies for recurrent infections and secondary immunodeficiency, including immunoglobulin replacement, hematopoietic stem cell transplant, gene therapy, and vaccination for immunocompromised patients. […] This course is designed for health care professionals, including physicians, physician assistants, nurse practitioners, fellows, and residents, with an interest in allergy, immunology, rheumatology, hematology and beyond.

• #139 Primary immunodeficiency diseases: Practice among primary care providers and awareness among the general public, United States, 2008 | Genetics in Medicine

  https://www.nature.com/articles/gim2010131

  Primary immunodeficiency disorders (PIDDs) represent a class of genetic diseases of the immune system. Delayed primary immunodeficiency disorder diagnosis leads to increased morbidity and mortality. This study assessed current primary immunodeficiency disorder practice among physicians and awareness among the public. […] Overall, 32% of physicians had diagnosed, treated, or referred a patient with primary immunodeficiency disorder in the last 5 years. […] When a possible primary immunodeficiency disorder case presented, 81% of physicians performed laboratory testing and 77% referred the patient to a specialist. […] Additional primary immunodeficiency disorder educational efforts, which target both physicians and the public, may be needed because increased primary immunodeficiency disorder awareness may lead to earlier diagnosis and less morbidity and mortality.

• #140 Data for better primary immunodeficiency care (PID) | UZ Leuven

  https://www.uzleuven.be/en/news/data-better-primary-immunodeficiency-care-pid

  The campaign pushes for early diagnosis and access to good care for every patient. […] It includes improving access to a diagnosis, but also focussing on high-quality treatment and care for PID patients through collaborative and real world data usage. […] The careful collection and analysis of data on presentation, diagnosis and treatment are crucial to provide optimal care for the PID patients of the future. […] We want to stress the importance of PID awareness, because it is still being diagnosed much too late. […] Patients are often anxious and insecure about their treatment or their future and also have to deal with physical fatigue. […] UZ Leuven paediatric immunodeficiency department started the CARE4KIDS project, focussing on psychosocial support and education of young patients and their social surroundings.

• #141

  https://link.springer.com/article/10.1007/s10875-017-0401-y

  Primary immunodeficiencies (PIDs) are a widely heterogeneous group of inherited defects of the immune system consisting of many clinical phenotypes with at least 300 underlying genetic deficits currently known. […] In recent years, a combination of basic and clinical research has greatly improved understanding of the underlying immunological and genetic defects in PIDs, leading to improved diagnosis, classification, and treatment approaches. […] The natural history of disease course has been greatly modified by improvements in management and care. […] We consider the current and future therapeutic approaches and treatment opportunities that may bring further advances in patient care, and we reflect on how to support and manage the growing number of PID patients, particularly in their transition from pediatric to adult healthcare services.

• #142

  https://link.springer.com/article/10.1007/s10875-017-0401-y

  Primary immunodeficiencies (PIDs) are a widely heterogeneous group of inherited defects of the immune system consisting of many clinical phenotypes with at least 300 underlying genetic deficits currently known. […] In recent years, a combination of basic and clinical research has greatly improved understanding of the underlying immunological and genetic defects in PIDs, leading to improved diagnosis, classification, and treatment approaches. […] The natural history of disease course has been greatly modified by improvements in management and care. […] We consider the current and future therapeutic approaches and treatment opportunities that may bring further advances in patient care, and we reflect on how to support and manage the growing number of PID patients, particularly in their transition from pediatric to adult healthcare services.

• #143 Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00662-6

  The JMCN was developed by JMF to meet the rising need for specialized centers to accommodate the increasing patient population and to create the infrastructure needed to promote research, early diagnosis, and proper treatment. […] The considerable growth in patients can likely be attributed to newborn screening, education and awareness activities, molecular diagnosis, and increased availability of genetic diagnostics including NGS platforms. […] Early recognition of PI results in annual estimated savings to the healthcare system (US-based) for each diagnosed patient of $97,488. Even when accounting for diagnosed patients receiving IgG, annual estimated savings to the healthcare system is remarkable, at $87,888. […] The SPIRIT Analyzer identifies at-risk patients by matching 352 ICD-10 codes to JMFs 10 Warning Signs of PI.

• #144 Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00662-6

  The initiation of SCID newborn screening programs, improvements in diagnostics, and advancements in genomic technologies over the past few decades have allowed for better prevalence estimates and have resulted in improved comprehension of PI and the causal mechanisms leading to monogenic defects of the immune system. […] The JMCN serves as a longstanding and growing platform for collaboration and cutting-edge research, with coordinated and open access to expert immunologists, to promote further meaningful advancements in the field of PI, including gene discovery.

• #145 Primary Immunodeficiency Diseases Research | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/immune-disorders/immunodeficiency-disease/immunodeficiency-diseases-research.html

  Primary immunodeficiency diseases are disorders where the immune system cannot protect the body from infections. […] Stem cell transplant can cure some primary immunodeficiency diseases such as SCID. […] The St. Jude Transplant Program is developing a new clinical trial for patients with SCID. […] Gene therapy treats disease by correcting a mutated (changed) gene with a healthy one. […] Primary immunodeficiency diseases can be difficult to study because they are so rare. […] One goal of the PIDTC is to learn whether newborn screening for SCID can improve outcomes by finding immune problems earlier.

• #146

  https://link.springer.com/article/10.1007/s10875-017-0401-y

  Management decisions for patients with PIDs need to be based more and more on all three aspects of diagnosis—the clinical presentation, an understanding of the patients immune function test results, and the underlying genetic defect. […] Currently, in most cases, management decisions will be led by the clinical presentation. […] This may involve the use of anti-infectious prophylaxis and the aggressive treatment of infections; however, for most patients with antibody deficiency, the cornerstone of therapy is immunoglobulin replacement therapy, the goal of which is to prevent most infections. […] Many studies show that immunoglobulin replacement therapy significantly reduces the rate of acute and chronic infection and greatly improves survival. […] Therefore, an improved understanding of the immunopathological and genetic defects in PIDs is key and will help to shed light on potential new targets and the possible role of immune-modifying agents in the future management of PIDs, autoimmune diseases and other closely linked conditions involving immune dysregulation, malignancy, and inflammation.

• #147 Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00662-6

  The JMCN was developed by JMF to meet the rising need for specialized centers to accommodate the increasing patient population and to create the infrastructure needed to promote research, early diagnosis, and proper treatment. […] The considerable growth in patients can likely be attributed to newborn screening, education and awareness activities, molecular diagnosis, and increased availability of genetic diagnostics including NGS platforms. […] Early recognition of PI results in annual estimated savings to the healthcare system (US-based) for each diagnosed patient of $97,488. Even when accounting for diagnosed patients receiving IgG, annual estimated savings to the healthcare system is remarkable, at $87,888. […] The SPIRIT Analyzer identifies at-risk patients by matching 352 ICD-10 codes to JMFs 10 Warning Signs of PI.

• #148 JMIR Research Protocols – Reducing Delays in Diagnosing Primary Immunodeficiency Through the Development and Implementation of a Clinical Decision Support Tool: Protocol for a Quality Improvement Project

  https://www.researchprotocols.org/2022/1/e32635/

  Primary immunodeficiencies (PIs) are a set of heterogeneous chronic disorders characterized by immune dysfunction. They are diagnostically challenging because of their clinical heterogeneity, knowledge gaps among primary care physicians, and continuing shortages of clinically trained immunologists. As a result, patients with undiagnosed PIs are at increased risk for recurrent infections, cancers, and autoimmune diseases. […] The aim of this research is to develop and implement a clinical decision support (CDS) tool for the identification of underlying PIs. […] The objective of this study is to develop and implement a clinical decision support (CDS) tool for identifying patients with an underlying PI. […] This CDS tool will enable primary care providers within the University of Iowa to refer patients to the University of Iowa’s Immunology Clinic, and guide laboratory investigations prior to referral to ensure readiness prior to the visit.

• #149

  https://link.springer.com/article/10.1007/s10875-017-0401-y

  Management decisions for patients with PIDs need to be based more and more on all three aspects of diagnosis—the clinical presentation, an understanding of the patients immune function test results, and the underlying genetic defect. […] Currently, in most cases, management decisions will be led by the clinical presentation. […] This may involve the use of anti-infectious prophylaxis and the aggressive treatment of infections; however, for most patients with antibody deficiency, the cornerstone of therapy is immunoglobulin replacement therapy, the goal of which is to prevent most infections. […] Many studies show that immunoglobulin replacement therapy significantly reduces the rate of acute and chronic infection and greatly improves survival. […] Therefore, an improved understanding of the immunopathological and genetic defects in PIDs is key and will help to shed light on potential new targets and the possible role of immune-modifying agents in the future management of PIDs, autoimmune diseases and other closely linked conditions involving immune dysregulation, malignancy, and inflammation.

• #150 Primary immunodeficiency – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/primary-immunodeficiency/diagnosis-treatment/drc-20376910

  Immunoglobulin consists of antibody proteins needed for the immune system to fight infections. It can either be injected into a vein through an intravenous (IV) line or inserted underneath the skin (subcutaneous infusion). treatment is needed every few weeks, and subcutaneous infusion is needed once or twice a week. […] Stem cell transplantation offers a permanent cure for several forms of life-threatening immunodeficiency. Normal stem cells are transferred to the person with immunodeficiency, which results in a typically functioning immune system. […] This type of treatment involves taking stem cells from the person with primary immunodeficiency, correcting the gene in the cells and then returning the corrected stem cells back to the person via an intravenous infusion. […] Depending on the type of disorder, treatment may involve other therapies, including enzyme replacement therapy or transplantation of the thymus, an organ located behind the breastbone (sternum) that produces T cells.

• #151 Primary Immunodeficiency Diseases Research | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/immune-disorders/immunodeficiency-disease/immunodeficiency-diseases-research.html

  Primary immunodeficiency diseases are disorders where the immune system cannot protect the body from infections. […] Stem cell transplant can cure some primary immunodeficiency diseases such as SCID. […] The St. Jude Transplant Program is developing a new clinical trial for patients with SCID. […] Gene therapy treats disease by correcting a mutated (changed) gene with a healthy one. […] Primary immunodeficiency diseases can be difficult to study because they are so rare. […] One goal of the PIDTC is to learn whether newborn screening for SCID can improve outcomes by finding immune problems earlier.

• #152 Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00662-6

  The initiation of SCID newborn screening programs, improvements in diagnostics, and advancements in genomic technologies over the past few decades have allowed for better prevalence estimates and have resulted in improved comprehension of PI and the causal mechanisms leading to monogenic defects of the immune system. […] The JMCN serves as a longstanding and growing platform for collaboration and cutting-edge research, with coordinated and open access to expert immunologists, to promote further meaningful advancements in the field of PI, including gene discovery.

• #153 Primary Immune Deficiencies – Principles of Care

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4266088/

  Immunoglobulin replacement therapy is absolutely essential for the treatment of the majority of patients with a PID. There are a variety of IgG products currently marketed worldwide. Each new product undergoes clinical trials to establish efficacy (protection from infection), safety (no disease transmission or seriously harmful adverse events), and tolerability (minimal side effects) before it can be sold. […] Hematopoietic stem cell transplantation (from blood or bone marrow) is the only cure for severe, otherwise fatal PIDs that present in infancy or early childhood and all SCID children should have access to this life-saving therapy, regardless of where they live. […] To replace missing antibodies, the antibody deficiency patients need Ig on a regular basis for the duration of their lives. Although initial treatments are started under supervision in a day care facility with experienced staff, once stable, patients can either self-treat or be treated at the local hospital or health-care center. There still needs to be regular contact with the specialist immunology nurses and both easy access to and regular follow-up by the PID doctor, since complications can occur later and significant damage from infection or chronic inflammation, particularly for children or adults who are diagnosed late, needs to be monitored.

• #154

  https://link.springer.com/article/10.1007/s10875-017-0401-y

  Management decisions for patients with PIDs need to be based more and more on all three aspects of diagnosis—the clinical presentation, an understanding of the patients immune function test results, and the underlying genetic defect. […] Currently, in most cases, management decisions will be led by the clinical presentation. […] This may involve the use of anti-infectious prophylaxis and the aggressive treatment of infections; however, for most patients with antibody deficiency, the cornerstone of therapy is immunoglobulin replacement therapy, the goal of which is to prevent most infections. […] Many studies show that immunoglobulin replacement therapy significantly reduces the rate of acute and chronic infection and greatly improves survival. […] Therefore, an improved understanding of the immunopathological and genetic defects in PIDs is key and will help to shed light on potential new targets and the possible role of immune-modifying agents in the future management of PIDs, autoimmune diseases and other closely linked conditions involving immune dysregulation, malignancy, and inflammation.

• #155 Striking the Right Balance: Shared Decision-Making in Primary Immunodeficiency Care

  https://www.hcplive.com/view/striking-the-right-balance-shared-decision-making-in-primary-immunodeficiency-care

  Flexibility and convenience are staples in most aspects of our lives due to new technology. […] Healthcare is no exception with the availability of instant access to medical records, online appointments and efforts to decrease wait times through better scheduling technology. […] But what about the clinical side? […] He emphasizes the importance of physicians and patients working together to determine the right treatment option. […] For these persons especially, creating a patient experience that equally prioritizes flexibility, convenience and outcomes is critical. […] The physician/patient relationship is all about finding a balance between the science and the unique human needs of the patient. […] Both sides need to be heard and work in harmony to achieve optimal outcomes. […] For people living with life-long conditions like PI, finding a treatment that offers both efficacy and convenience is paramount in ensuring a favorable treatment experience and overall quality of life.

• #156 Striking the Right Balance: Shared Decision-Making in Primary Immunodeficiency Care

  https://www.hcplive.com/view/striking-the-right-balance-shared-decision-making-in-primary-immunodeficiency-care

  Flexibility and convenience are staples in most aspects of our lives due to new technology. […] Healthcare is no exception with the availability of instant access to medical records, online appointments and efforts to decrease wait times through better scheduling technology. […] But what about the clinical side? […] He emphasizes the importance of physicians and patients working together to determine the right treatment option. […] For these persons especially, creating a patient experience that equally prioritizes flexibility, convenience and outcomes is critical. […] The physician/patient relationship is all about finding a balance between the science and the unique human needs of the patient. […] Both sides need to be heard and work in harmony to achieve optimal outcomes. […] For people living with life-long conditions like PI, finding a treatment that offers both efficacy and convenience is paramount in ensuring a favorable treatment experience and overall quality of life.

• #157 Striking the Right Balance: Shared Decision-Making in Primary Immunodeficiency Care

  https://www.hcplive.com/view/striking-the-right-balance-shared-decision-making-in-primary-immunodeficiency-care

  We also need to ask about the impact of their treatment schedule on their quality of life are they missing time with family or friends because of side effects or time spent infusing and adjust treatment as needed. […] I find that patients who are busy with work, school, and family and are looking for the next thing in terms of convenience, are willing to give it a try. […] Many physicians engage in some shared decision-making, but not to the extent that it should be, and it goes back to the obstacle of time. […] Physicians need to take a holistic treatment approach and evaluate individual patient needs to customize treatment based on efficacy, as well as flexibility and convenience, to fit into the everyday life of those living with a life-long disease.

• #158 Striking the Right Balance: Shared Decision-Making in Primary Immunodeficiency Care

  https://www.hcplive.com/view/striking-the-right-balance-shared-decision-making-in-primary-immunodeficiency-care

  Flexibility and convenience are staples in most aspects of our lives due to new technology. […] Healthcare is no exception with the availability of instant access to medical records, online appointments and efforts to decrease wait times through better scheduling technology. […] But what about the clinical side? […] He emphasizes the importance of physicians and patients working together to determine the right treatment option. […] For these persons especially, creating a patient experience that equally prioritizes flexibility, convenience and outcomes is critical. […] The physician/patient relationship is all about finding a balance between the science and the unique human needs of the patient. […] Both sides need to be heard and work in harmony to achieve optimal outcomes. […] For people living with life-long conditions like PI, finding a treatment that offers both efficacy and convenience is paramount in ensuring a favorable treatment experience and overall quality of life.

• #159 ASCIA Inborn Errors of Immunity (Primary Immunodeficiencies) Clinical Care Standard – Australasian Society of Clinical Immunology and Allergy (ASCIA)

  https://www.allergy.org.au/hp/papers/ascia-iei-pid-clinical-care-standard

  People with IEI should start appropriate treatment as soon as feasible after diagnosis, which should not be delayed: […] People with IEI should have access to home-based therapies, including SCIg when indicated, depending on their suitability and preference: […] People with IEI are at increased risk of complications from infections and therefore require special consideration in healthcare settings (inpatient and outpatient), including the following infection control measures: […] People with IEI should be empowered by their clinical and allied health teams to make use of the information, educational resources and support services available through professional and patient/carer organisations: […] Young people with IEI should understand their condition and learn how to look after their health independently to facilitate transition from paediatric to adult medical services:

• #160

  https://link.springer.com/article/10.1007/s10875-017-0401-y

  Management decisions for patients with PIDs need to be based more and more on all three aspects of diagnosis—the clinical presentation, an understanding of the patients immune function test results, and the underlying genetic defect. […] Currently, in most cases, management decisions will be led by the clinical presentation. […] This may involve the use of anti-infectious prophylaxis and the aggressive treatment of infections; however, for most patients with antibody deficiency, the cornerstone of therapy is immunoglobulin replacement therapy, the goal of which is to prevent most infections. […] Many studies show that immunoglobulin replacement therapy significantly reduces the rate of acute and chronic infection and greatly improves survival. […] Therefore, an improved understanding of the immunopathological and genetic defects in PIDs is key and will help to shed light on potential new targets and the possible role of immune-modifying agents in the future management of PIDs, autoimmune diseases and other closely linked conditions involving immune dysregulation, malignancy, and inflammation.

• #161 Striking the Right Balance: Shared Decision-Making in Primary Immunodeficiency Care

  https://www.hcplive.com/view/striking-the-right-balance-shared-decision-making-in-primary-immunodeficiency-care

  A recent Harris poll survey of 104 PI patients sponsored by CSL Behring found that 94% of PI patients surveyed agree that flexibility and options are important in personalizing Ig treatment. […] If a patient prioritizes flexibility and convenience, we may need to discuss whether they are candidates for subcutaneous immune globulin (SCIg), like Hizentra, which allow PI patients to self-infuse in the comfort of their home and on a schedule that is convenient for them. […] I believe we need to give patients the time and tools to make an informed decision and allow them to explore their options. […] I firmly believe that physicians must work in tandem with patients to align on a treatment plan. […] PI patients have a number of choices when it comes to treatment, but the thing I like to point out is whether we are talking about IVIg or SCIg, all Ig products approved by the FDA for treatment of PI meet certain standards in terms of efficacy.

• #162

  https://www.healio.com/news/allergy-asthma/primary-immunodeficiency-disease

  Patients who are immunocompromised still can receive a variety of vaccinations based on their specific needs, Cassandra Calabrese, DO, said during her presentation at Updates in Primary Immunodeficiency 2025. […] Artificial intelligence can improve care for patients with primary immunodeficiencies, but human input is still necessary, Nicholas L. Rider, DO, said at Updates in Primary Immunodeficiency 2025. […] Primary immunodeficiencies are not as rare as they used to be, James Fernandez, MD, PhD, told Healio, and practicing allergist-immunologists need to be prepared to diagnose and treat them, often in collaboration with other specialists. […] Genetic testing can play a positive role and help improve outcomes in managing immunodeficiencies, according to a presentation at the American College of Allergy, Asthma Immunology Annual Scientific Meeting. […] Patients with primary immunodeficiencies experience an average of 9 to 15 years between the onset of their symptoms to diagnosis of their disorder and treatment that could save their lives, according to the Immune Deficiency Foundation.

• #163

  https://link.springer.com/article/10.1007/s10875-017-0401-y

  Management decisions for patients with PIDs need to be based more and more on all three aspects of diagnosis—the clinical presentation, an understanding of the patients immune function test results, and the underlying genetic defect. […] Currently, in most cases, management decisions will be led by the clinical presentation. […] This may involve the use of anti-infectious prophylaxis and the aggressive treatment of infections; however, for most patients with antibody deficiency, the cornerstone of therapy is immunoglobulin replacement therapy, the goal of which is to prevent most infections. […] Many studies show that immunoglobulin replacement therapy significantly reduces the rate of acute and chronic infection and greatly improves survival. […] Therefore, an improved understanding of the immunopathological and genetic defects in PIDs is key and will help to shed light on potential new targets and the possible role of immune-modifying agents in the future management of PIDs, autoimmune diseases and other closely linked conditions involving immune dysregulation, malignancy, and inflammation.

• #164 Striking the Right Balance: Shared Decision-Making in Primary Immunodeficiency Care

  https://www.hcplive.com/view/striking-the-right-balance-shared-decision-making-in-primary-immunodeficiency-care

  A recent Harris poll survey of 104 PI patients sponsored by CSL Behring found that 94% of PI patients surveyed agree that flexibility and options are important in personalizing Ig treatment. […] If a patient prioritizes flexibility and convenience, we may need to discuss whether they are candidates for subcutaneous immune globulin (SCIg), like Hizentra, which allow PI patients to self-infuse in the comfort of their home and on a schedule that is convenient for them. […] I believe we need to give patients the time and tools to make an informed decision and allow them to explore their options. […] I firmly believe that physicians must work in tandem with patients to align on a treatment plan. […] PI patients have a number of choices when it comes to treatment, but the thing I like to point out is whether we are talking about IVIg or SCIg, all Ig products approved by the FDA for treatment of PI meet certain standards in terms of efficacy.

• #165 Striking the Right Balance: Shared Decision-Making in Primary Immunodeficiency Care

  https://www.hcplive.com/view/striking-the-right-balance-shared-decision-making-in-primary-immunodeficiency-care

  We also need to ask about the impact of their treatment schedule on their quality of life are they missing time with family or friends because of side effects or time spent infusing and adjust treatment as needed. […] I find that patients who are busy with work, school, and family and are looking for the next thing in terms of convenience, are willing to give it a try. […] Many physicians engage in some shared decision-making, but not to the extent that it should be, and it goes back to the obstacle of time. […] Physicians need to take a holistic treatment approach and evaluate individual patient needs to customize treatment based on efficacy, as well as flexibility and convenience, to fit into the everyday life of those living with a life-long disease.

• #166 Primary immunodeficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/primary-immunodeficiency

  Most people with primary immunodeficiency can go to school and work like everyone else. Still, you might feel as if no one understands what it’s like to live with the constant threat of infections. Talking to someone who faces similar challenges may help. […] Ask your doctor if there are support groups in the area for people with primary immunodeficiency or for parents of children with the disease. The Immune Deficiency Foundation has a peer support program as well as information on living with primary immunodeficiency.

• #167 Primary Care and Primary Immunodeficiencies | AAFP

  https://www.aafp.org/pubs/afp/issues/2003/1115/p1919.html

  Most family physicians can expect to encounter patients with primary immunodeficiencies. The most common primary immunodeficiencies would be seen in most large clinical practices. However, to ensure timely diagnosis, the family physician also should be familiar with the less common immunodeficiency disorders. […] The family physician is particularly well placed to recognize an abnormal infection pattern in a patient and initiate a work-up for suspected immunodeficiency disorder. Management of the patient with a primary immunodeficiency disorder requires a meticulous approach. Infections must be treated aggressively, and surveillance for unusual infections, malignancy, or autoimmune disease is critical. With appropriate medical support, the patient with a primary immunodeficiency disorder can be expected to lead a full and productive life.

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