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• #1 The basics – Immunodeficiency UKAccessibilityIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://www.immunodeficiencyuk.org/immunodeficiency/primary-immunodeficiency/basics/

  PIDs stands for primary immunodeficiencies or primary immune deficiencies. These are a group of over 450 different conditions that affect how the body’s immune system works. […] People affected by PIDs have parts of their immune systems missing or not working. This leaves them with reduced or no natural defence against germs such as bacteria, fungi and viruses, which surround us every day. The consequences are that people with PIDs get infections more often than is normal; they can take longer to get better when they have antibiotic treatment and even then the infections can keep coming back. […] This susceptibility to infection is one of the most common symptoms of PIDs. Often PIDs are diagnosed early in a child’s life. However, signs of immunodeficiency can also occur in older children, teenagers or adults.

• #2 Primary Immunodeficiency (PID) – Australasian Society of Clinical Immunology and Allergy (ASCIA)

  https://www.allergy.org.au/patients/immunodeficiencies/primary-immunodeficiency

  Inborn errors of immunity (IEI) include primary immune deficiencies (PID) and are a group of more than 550 potentially serious chronic medical conditions, that can lead to frequent or severe infections, swellings, and autoimmune problems. PID/IEI symptoms often appear in childhood but some can occur for the first time in adults. […] Early diagnosis of PID/IEI disorders is important as delayed treatment can result in complications that may be life threatening. If someone has two or more of the following signs, they should discuss the possibility of having a PID/IEI disorder with their doctor. […] Common variable immunodeficiency (CVID) is the most common form of antibody deficiency and usually presents with recurrent chest and sinus infections. Symptoms can start at any age, although most cases are diagnosed in adults.

• #3 Primary immunodeficiency – Wikipedia

  https://en.wikipedia.org/wiki/Primary_immunodeficiency

  Primary immunodeficiencies are disorders in which part of the body’s immune system is missing or does not function normally. To be considered a primary immunodeficiency (PID), the immune deficiency must be inborn, not caused by secondary factors such as other disease, drug treatment, or environmental exposure to toxins. Most primary immunodeficiencies are genetic disorders; the majority are diagnosed in children under the age of one, although milder forms may not be recognized until adulthood. Immune deficiencies can result in persistent or recurring infections, auto-inflammatory disorders, tumors, and disorders of various organs. The precise symptoms of a primary immunodeficiency depend on the type of defect. Generally, the symptoms and signs that lead to the diagnosis of an immunodeficiency include recurrent or persistent infections or developmental delay as a result of infection. The nature of the infections, as well as the additional features, may provide clues as to the exact nature of the immune defect. Most treatment is therefore passive and palliative, and falls into two modalities: managing infections and boosting the immune system.

• #4 Primary immunodeficiency // Middlesex Health

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

  One of the most common signs of primary immunodeficiency is having infections that are more frequent, longer lasting or harder to treat than are the infections of someone with a typical immune system. You may also get infections that a person with a healthy immune system likely wouldn’t get (opportunistic infections). […] Signs and symptoms differ depending on the type of primary immunodeficiency disorder, and they vary from person to person. […] Signs and symptoms of primary immunodeficiency can include: Frequent and recurrent pneumonia, bronchitis, sinus infections, ear infections, meningitis or skin infections, Inflammation and infection of internal organs, Blood disorders, such as low platelet count or anemia, Digestive problems, such as cramping, loss of appetite, nausea and diarrhea, Delayed growth and development, Autoimmune disorders, such as lupus, rheumatoid arthritis or type 1 diabetes.

• #5 Primary Immunodeficiency: Types & Symptoms

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

  Having repeated, persistent or unusual infections that are difficult to treat are often the first signs of primary immunodeficiency for many people. […] Other primary immunodeficiency symptoms may include: Multiple courses of antibiotics needed to overcome infections. […] Primary immunodeficiency may increase your risk for developing complications later in life. You might develop an autoimmune disorder or certain types of cancer. PIDD may result in unusually severe infections if its not treated. […] With treatment, most people with PIDD live healthy lives. In some cases, you’ll have to take medication for the rest of your life. You should also try to avoid infection. […] If you have an infection that doesn’t go away, is unusually severe or keeps coming back, contact your healthcare provider for an evaluation to determine if you have PIDD.

• #6 What is PI? | Immune Deficiency Foundation

  https://primaryimmune.org/understanding-primary-immunodeficiency/what-is-pi

  Primary immunodeficiencies (PIs) are a group of more than 550 rare, chronic conditions where a part of the body’s immune system is missing or does not function correctly. […] PI conditions prevent the immune system from working as it should, so the body has a hard time protecting itself against infection. This increased susceptibility can lead to infections that are: Recurrent (keep coming back). Persistent (won’t completely clear up or clear very slowly). Unusual (caused by an uncommon organism). Severe (require hospitalization or intravenous antibiotics). Shared by family members (others in your family have or have had a similar susceptibility to infection). […] Additional symptoms of PIs include: Swollen spleen, liver, or lymph nodes (splenomegaly, hepatomegaly, or lymphadenopathy). Inflammation of blood vessels (vasculitis). Autoimmune or autoinflammatory symptoms like inflammatory bowel disease. […] Some PI disorders cause symptoms in infancy or early childhood, but others may not present until mid- or even older adulthood.

• #7 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 means that people with PI are more likely to get and become very sick from infections. […] There are more than 400 types of PI that vary in severity, which affects how early they are detected. In some cases, a person with a mild form may not find out that they have PI until adulthood. In other cases, the disorder causes problems in infancy and is found soon after birth. […] People with PI are more likely to have the following: More frequent or repeated infections, such as ear infections, sinus infections, pneumonia, bronchitis, meningitis, skin infections, and thrush (a fungal infection of the mouth or skin, also called candidiasis). […] Infections that last longer than in most people. Infections that are hard to treat and do not respond to antibiotics or require IV antibiotics. Infections that are more severe and require hospitalization, such as sepsis or abscesses (pus-filled infections) of internal organs. Infections that most people don’t get (sometimes called opportunistic infections). Lack of weight gain or growth in an infant (failure to thrive). Digestive problems, such as chronic diarrhea. […] 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.

• #8 Symptoms & Diagnosis – Immunodeficiency UKAccessibilityIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://www.immunodeficiencyuk.org/immunodeficiency/secondary-immunodeficiency/symptoms-diagnosis/

  While many types of primary immunodeficiency (PID) have been identified, the main types cause similar symptoms in those affected. Notably these symptoms are: frequent, repeated bouts of infections that can be long-lasting and severe, unusual infections. […] However, it is now recognised that PIDs may present in other ways, including in people who may have non-infectious complications such as autoimmunity, inflammatory disorders with fevers, swollen joints, rashes and bowel problems, angioedema or sometimes even cancers, particularly lymphomas. […] The major indicators are: Failure of a baby or child to gain weight or grow normally (failure to thrive) – there are many reasons for failing to thrive and PIDs are a rare but important cause, The need for intravenous (IV) antibiotics to treat infections – the use of IV antibiotics indicates a serious infection and infants, children and adults should be considered for PID, A history of a PID in the family – family members should at least have a primary screen (full blood count and serum immunoglobulins), Four or more new ear infections within one year, Two or more new sinus infections within one year, Two or more months on at least two antibiotics at a stretch with little effect, Two or more pneumonias within three years, Having frequent deep skin or organ abscesses, Persistent thrush or fungal infection (more than six months) on the skin or elsewhere, Two or more deep-seated infections, including septicaemia (blood poisoning), within three years.

• #9 Primary immunodeficiency – 10 warning signs

  https://allerg.qc.ca/Information_allergique/p4a_immunodeficience_en.html

  Up to 1 in 500 people may be affected by a primary immunodeficiency, and many remain undiagnosed. Here are some warning signs that might suggest a primary immunodeficiency in your patient and that merit referral to an immunologist. […] Think about referring your patient to an allergist/immunologist when there is the presence of 2 of the following warning signs: […] 4 ear infections in one year […] 2 severe sinus infections in one year […] 2 months treatment of antibiotics with little effect […] 2 pneumonias per year […] Insufficient weight gain or growth delay […] Recurrent deep skin or organ abcesses (ex. :liver, lungs) […] Persistent thrush in mouth or fungal infection on skin […] Need for intravenous antibiotics to clear infections […] 2 deep seated infections (ex. : septicemia, meningitis)

• #10 Primary immunodeficiency – 10 warning signs

  https://allerg.qc.ca/Information_allergique/p4a_immunodeficience_en.html

  Family history of a primary immunodeficiency […] Think about referring your patient to an allergist/immunologist when there is the presence of 2 of the following warning signs: […] 2 ear infections in one year […] 2 sinus infections in one year in the absence of allergies […] 1 pneumonia per year for more than one year […] Chronic diarrhea with weight loss […] Repeat viral infections (colds, herpes, warts, condyloma) […] Recurrent need for intravenous antibiotics to clear infections […] Recurrent, deep abscesses of the skin or internal organs (ex. : liver, lungs) […] Persistent thrush or fungal infection on skin or elsewhere […] Infection with normally harmless tuberculosis-like bacteria […] Family history of a primary immunodeficiency.

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

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

  If your child has a primary immunodeficiency disease (PIDD), their immune system doesnt work the way it should. That means their body has a harder time fighting off germs that can make them sick. A common cold thats no big deal for others could turn into a severe infection that takes a long time to go away or needs treatment from a doctor. […] How PIDD affects your child will depend on the type they have. Some general symptoms include: […] Frequent infections, such as ear and skin infections, sinusitis, bronchitis, or pneumonia […] Infections that need antibiotics through an IV to clear up […] A severe, fast-moving illness, such as septicemia, a bacterial infection of the blood […] Getting a PIDD diagnosis and starting treatment as soon as possible can help your child avoid these more serious issues. […] With the right treatment, many children with PIDD are likely to have a full and active life.

• #12 Primary immunodeficiency | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-018-0290-5/tables/2

  1. 4 new ear infections within 1 year […] 2. 2 serious sinus infections within 1 year […] 3. 2 months on antibiotics with little effect […] 4. 2 pneumonias within 1 year […] 5. Failure of an infant to gain weight or grow normally […] 6. Recurrent, deep skin or organ abscesses […] 7. Persistent thrush in mouth or fungal infection on skin […] 8. Need for IV antibiotics to clear infections […] 9. 2 deep-seated infections including septicemia […] 10. A family history of PID […] 1. 2 new ear infections within 1 year […] 2. 2 new sinus infections within 1 year, in the absence of allergy […] 3. 1 pneumonia per year for 1 year […] 4. Chronic diarrhea with weight loss […] 5. Recurrent viral infections (colds, herpes, warts, condyloma) […] 6. Recurrent need for IV antibiotics to clear infections […] 7. Recurrent, deep abscesses of the skin or internal organs […] 8. Persistent thrush or fungal infection on skin or elsewhere […] 9. Infection with normally harmless tuberculosis-like bacteria […] 10. A family history of PID

• #13 Primary immunodeficiencies

  https://www.rch.org.au/clinicalguide/guideline_index/primary_immunodeficiencies/

  Primary immunodeficiencies (PIDs) present with a variety of symptoms depending on which part of the immune system is affected […] PIDs should be considered in all children with: severe infection, infection with unusual or opportunistic organisms, recurrent infection – more than expected for age (eg healthy toddlers may have 5-10 minor infections per year, often more if attending childcare) […] There are a broad range of symptoms and signs of PIDs, including: Poor growth (especially slow to gain weight), Persistent lymphopenia (especially lymphocyte count 1 x 109/L in children 1 yo), Chronic diarrhoea, Four or more middle ear infections within one year, Two or more serious sinus infections within one year, Recurrent deep skin or organ abscesses, Persistent thrush in the mouth, skin or elsewhere after 1 yo, Inadequate response to antibiotics (two or more months of antibiotics with little effect), Repeat hospital admission for intravenous antibiotics, Invasive pneumococcal or meningococcal disease, Recurrent, severe or prolonged infections with common pathogens, eg adenovirus, Family history of immunodeficiency, previous sibling death (unexplained or due to infection), parental consanguinity […] Persistent lymphadenopathy, Oral candidiasis, Gingivitis, Severe or chronic otitis media or sinusitis, Skin abscesses, Digital clubbing, Severe eczema or eczema-like rashes, Splenomegaly, Poor muscle bulk, fat stores or signs of nutritional deficiency.

• #14 Attending to Warning Signs of Primary Immunodeficiency Diseases Across the Range of Clinical Practice

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3930833/

  Any patient with severe or recurrent infections or infection by opportunistic or uncommon microorganisms must be investigated for PIDD after discarding the possibility of infection with human immunodeficiency virus (HIV). […] Many PIDDs have unique susceptibilities to some pathogens and/or sites of infections that are listed in Table III. […] A positive family history definitely suggests a PIDD. […] The risk for autoimmune diseases is elevated in patients with PIDD and is sometimes the only clinical manifestation of their causative condition. […] Autoimmune hemolytic anemia, thrombocytopenia, and/or neutropenia are also seen in patients with selective IgA deficiency, CVID, and class switch recombination (CSR) defects. […] The risk of cancer in PIDD patients mainly takes the form of T cell malignancies (70-fold and 250-fold increased risks of leukemia and lymphoma, respectively), and B cell malignancies are high when compared with the general population.

• #14 Attending to Warning Signs of Primary Immunodeficiency Diseases Across the Range of Clinical Practice

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3930833/

  Patients with primary immunodeficiency diseases (PIDD) may present with recurrent infections affecting different organs, organ-specific inflammation/autoimmunity, and also increased cancer risk, particularly hematopoietic malignancies. […] The diagnosis of PIDD is most often suggested by recurrent or unusual infections and inflammatory or autoimmune conditions. […] Recurrent infections are often attributed to the presence of non-immune abnormalities, such as Down syndrome, muscular dystrophy, or various congenital heart defects. Such patients may also have an immunodeficiency, and appropriate recognition and treatment may significantly improve their quality of life. […] Infectious disease is the hallmark of PIDD, and infectious disease specialists are the physicians most likely to encounter patients with PIDD in their daily practice.

• #15 Primary Immunodeficiency | Boston Children’s Hospital

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

  Although the genetic defect causing the PIDD is present at birth, children with PIDD may not develop symptoms until they are several months old. In some cases, they are not diagnosed until later in childhood or even adulthood. Because PIDDs affect the immune system, children with these disorders develop frequent, severe or unusual infections. Often a simple cold will lead to severe bacterial infections, most commonly pneumonia, bronchitis, sinusitis and ear infections (otitis). […] A child that has only one of these symptoms or signs is unlikely to have PIDD. But if a child has several of these symptoms, or has repeated infections in a short period of time, the child could have PIDD. […] The majority of children with a PIDD live active lives. Sometimes so much so, their condition is not suspected. Early detection, diagnosis and treatment are critical in reducing the risk for chronic illness, permanent organ damage or even death. […] PIDDs are present at birth, although the symptoms may not begin until later in life, sometimes even in teenage years or adulthood. Thus, PIDDs are not caused by environmental exposures, medications, trauma, diet or events occurring during pregnancy.

• #16 Primary immunodeficiency

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6157160/

  Patients with SCID usually present within the first year of life with chronic diarrhea and failure to thrive; severe, recurrent infections with opportunistic pathogens (e.g., Candida albicans [thrush], Pneumocystis jiroveci, or cytomegalovirus); and skin rashes. […] Patients with humoral deficiency often have reduced or absent serum Ig levels, but may also show normal or increased serum Ig levels with abnormal function. […] The mainstay of therapy for most B-cell (antibody-deficiency) disorders is intravenous (IV) or subcutaneous Ig replacement therapy; in fact, many patients will require this treatment indefinitely. […] Lower trough levels have been associated with the progression of chronic lung disease in otherwise asymptomatic patients. […] Patients with innate immunodeficiency disorders often present with unusual or difficult to eradicate infections. […] Treatment varies depending on the type of defect (e.g., phagocyte disorder or complement deficiency), but may involve antifungal and antibiotic prophylaxis, cytokine replacement, vaccinations and BMT.

• #16 Primary immunodeficiency

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6157160/

  Primary immunodeficiency disorder (PID) refers to a large heterogeneous group of disorders that result from defects in immune system development and/or function. […] Although the clinical manifestations of PIDs are highly variable, many disorders involve an increased susceptibility to infection. […] PIDs should be suspected in patients with: recurrent sinus or ear infections or pneumonias within a 1 year period; failure to thrive; poor response to prolonged use of antibiotics; persistent thrush or skin abscesses; or a family history of PID. […] The clinical presentation of PIDs is highly variable; however, most disorders involve increased susceptibility to infection. […] Patients with specific T-cell defects may be lymphopenic (i.e., have abnormally low levels of lymphocytes) and neutropenic (i.e., have abnormally low levels of neutrophils).

• #17 Severe Combined Immunodeficiency (SCID) (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/severe-immunodeficiency.html

  Severe combined immunodeficiency (SCID) is very rare genetic disorder that causes life-threatening problems with the immune system. It is a type of primary immune deficiency (also called an inborn error of immunity). Various genetic changes can lead to the condition. […] In SCID, the child’s body has too few lymphocytes or lymphocytes that don’t work properly. […] Because the immune system doesn’t work as it should, it can be hard or impossible for it to battle the germs (viruses, bacteria, and fungi) that cause infections. […] Babies with SCID may appear healthy at birth, but problems can start soon after, such as: failure to thrive, chronic diarrhea, frequent, often serious respiratory infections, oral thrush (a type of yeast infection in the mouth), other bacterial, viral, or fungal infections that can be serious and hard to treat.

• #18 Primary immunodeficiency | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-018-0290-5

  Patients with humoral deficiency often have reduced or absent serum Ig levels, but may also show normal or increased serum Ig levels with abnormal function. […] More than 50% of patients with humoral immunodeficiency are diagnosed in adulthood, and there is generally a prolonged delay between first presentation and diagnosis since many healthcare providers do not consider PID in their differential diagnosis. […] Patients with innate immunodeficiency disorders may present at any age, often with unusual or difficult to eradicate infections. […] The prognosis of patients with PIDs varies depending on the etiology of the disorder. However, patient outcomes and long-term survival have improved significantly since the 1970s given our improved management of infections and early access to antibiotics, advances in BMT and HSCT techniques, and enhanced intensive care services.

• #19 Primary Immunodeficiencies | AAFP

  https://www.aafp.org/pubs/afp/issues/2003/1115/p2001.html

  Primary immunodeficiencies include a variety of disorders that render patients more susceptible to infections. If left untreated, these infections may be fatal. […] Major indications of these disorders include multiple infections despite aggressive treatment, infections with unusual or opportunistic organisms, failure to thrive or poor growth, and a positive family history. Early recognition and diagnosis can alter the course of primary immunodeficiencies significantly and have a positive effect on patient outcome. […] Patients with primary immunodeficiency disorders are susceptible to infections that, if left untreated, may be fatal. […] Patients with antibody deficiencies often present after six months of age, when maternal antibodies are lost, but they can present in adulthood. Typically, these patients develop infections with encapsulated bacteria. Recurrent bacterial sinus and pulmonary infections are the hallmark of antibody primary immunodeficiencies.

• #20 Primary immunodeficiency // Middlesex Health

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

  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. […] Complications caused by a primary immunodeficiency disorder vary depending on what type you have. They can include: Recurrent infections, Autoimmune disorders, Damage to the heart, lungs, nervous system or digestive tract, Slowed growth, Increased risk of cancer, Death from serious infection.

• #21 Overview of Immunodeficiency Disorders – Immune Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/immune-disorders/immunodeficiency-disorders/overview-of-immunodeficiency-disorders

  Although people with an immunodeficiency may have decreased ability to fight bacteria and other „foreign” substances, they can develop an immune response against their own tissues and develop symptoms of an autoimmune disorder. […] With appropriate treatment, many people with an immunodeficiency disorder have a normal life span. However, some require intensive and frequent treatments throughout life. Others, such as those with severe combined immunodeficiency, die during infancy unless they are given a stem cell transplant.

• #22 Severe Combined Immunodeficiency (SCID) (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/severe-immunodeficiency.html

  Without treatment, babies are not likely to survive past their first birthday. […] Treatment is most successful when babies with SCID get a stem cell transplant in the first few months of life, and before they get infections. […] Children with SCID usually are cared for by a medical team of several specialists. […] Because children with SCID are at risk for life-threatening infections, doctors often start them on medicines to help prevent infection.

• #23 Symptoms & Diagnosis – Immunodeficiency UKAccessibilityIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://www.immunodeficiencyuk.org/immunodeficiency/secondary-immunodeficiency/symptoms-diagnosis/

  Two or more of these warning signs could indicate the presence of an underlying PID. If you or your child have any of these symptoms, it’s important to talk with your doctor. […] In general the earlier the underlying diagnosis of a PID is made, the less damage will be done and, often, the easier it is to treat the disease successfully. […] On average this is still more than four years, though in some milder cases it may be almost a decade. […] An accurate diagnosis of a PID may also be delayed because the primary symptom of the disorder, a series of infections, can easily be attributed to ‘ordinary’ illness, especially in children. Frequent infections are common among children, even those who would otherwise be classified as ‘healthy’. […] For an adult patient showing signs of a PID, there are other factors in diagnosis delay. While severe cases of a PID are typically diagnosed in children, symptoms revealing milder forms often do not appear until later in life. […] When a doctor does begin to suspect the possibility of a PID he or she will want to review your medical and family histories, looking for the patterns that would point to a diagnosis of a PID.

• #24 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. Children with these diseases tend to have bacterial or fungal infections with unusual organisms, or unusually severe and recurrent infections with common organisms. […] The median interval from onset of symptoms to diagnosis is 2.7 years. […] The most common presentations of a primary immunodeficiency disease in children are recurrent ear, sinus, and pulmonary infections; diarrhea; and failure to thrive. […] Recurrent, serious infections with common pathogens may be a sign of an immunodeficiency disease. Similarly, any unusual infections, including meningitis, sepsis, and fungal and opportunistic infections, should raise suspicion for an immunodeficiency disease. […] T-cell disorders usually present early in life. The most serious form of T-cell disorder, severe combined immunodeficiency (SCID), presents in infants as an emergent condition with life-threatening infections. Diarrhea, failure to thrive, opportunistic infections, and severe routine infections in a child younger than three months should raise suspicion for SCID.

• #25 Primary Immunodeficiency: Symptoms, Causes, Treatment | Qwark

  https://qwarkhealth.com/conditions/primary-immunodeficiency

  Early diagnosis of Primary Immunodeficiency is crucial for improving prognosis, as prompt treatment can prevent or manage infections and other complications associated with the condition. According to the Immune Deficiency Foundation, the average delay in diagnosis for Primary Immunodeficiency is over 12 years, meaning that many individuals with the condition are not receiving timely treatment. […] Certain types of Primary Immunodeficiency may have worse prognoses than others, depending on the specific complications associated with each type of the condition. For example, individuals with severe combined immunodeficiency (SCID) have a high risk of life-threatening infections in infancy and childhood, while individuals with X-linked agammaglobulinemia may develop chronic lung infections and other complications later in life.

• #26 The basics – Immunodeficiency UKAccessibilityIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://www.immunodeficiencyuk.org/immunodeficiency/primary-immunodeficiency/basics/

  Those affected can have a wide range of symptoms ranging from mild to severe, and this depends on the type of PID the person has. For example, some people may experience recurrent colds and other respiratory ailments, while others may experience heart problems, pneumonia, skin disorders and arthritis. […] PIDs are rare and this means that some people remain undiagnosed for many years, resulting in organ damage and even disability. […] The effects of a PID can be immense. For example, a baby born with severe combined immunodeficiency (SCID) might not survive more than a couple of years without isolation in a sterile environment until a bone marrow transplant can be carried out. Even for a child with a less severe disorder, prolonged periods of ill-health can disrupt schooling and social contacts.

• #27 The basics – Immunodeficiency UKAccessibilityIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://www.immunodeficiencyuk.org/immunodeficiency/primary-immunodeficiency/basics/

  For an adult, frequent debilitating illnesses can make it more difficult to pursue a career or enjoy family life. There can be psychological problems, too. Feeling isolated, the fear of losing one’s income, or the anguish of caring for a sick child, can take its toll. […] The exact figure is unknown because there isn’t a national screening programme for PIDs at birth. Similarly, people are not screened routinely during their lifetime. Usually, doctors only know if a person has an immunodeficiency when they become ill and are tested. Many people may remain undiagnosed throughout their life because they have less severe forms of primary immunodeficiency that allow them to survive and lead a relatively normal life: sadly some people may die from infection without having their underlying condition diagnosed.

• #28

  https://link.springer.com/article/10.1007/s10875-022-01207-7

  Primary immunodeficiency diseases (PIDs) encompass a heterogeneous group of rare disorders, characterized by an increased susceptibility to infections, autoimmune complications, autoinflammatory diseases, and malignancies. […] Apart from these well-recognized disease manifestations, PID patients also suffer from psychological distress, significantly impacting their quality of life. […] The prevalence of psychological symptoms in these patients remains unclear. […] Almost half of the study population had received consultation or treatment for mental health issues, of which 48 patients had been formally diagnosed with a psychiatric disorder. […] On all four dimensions, PID patients scored significantly higher, as shown in Table 1 and Figure S1. […] Evaluating the frequencies of moderate and high scores together which are both considered to be aberrant results in prevalence of symptom dimensions of patients with PID (33.9% distress, 18.9% depression, 22.4% anxiety, and 36.2% somatization) and controls (16.3% distress, 5.7% depression, 8.0% anxiety, and 11.2% somatization).

• #29

  https://link.springer.com/article/10.1007/s10875-022-01207-7

  Overall, this study indicates the presence of a broad range of psychological symptoms in PID patients rather than specific symptoms or a certain symptom dimension. […] Patients with PIDs experience somatic health impediments, such as increased susceptibility to infections, autoimmunity, allergy, malignancy, and long-term treatment from early life, which most likely impact their mental well-being. […] There are thus several psychological mechanisms through which patients with PIDs are at risk for mental health difficulties, including fear of infections, social isolation, fatigue, maladaptation to illness, concerns over the future impact of illness, and unavailability of good coping strategies. […] From a clinical point of view, PID patients suffer from substantial psychological symptoms, and patient-centered, personalized care should be modified in order to address this issue. […] This study adds to the limited body of empirical evidence that a high level of psychological symptoms exists among adult PID patients.

• #30 List of Primary Immunodeficiency Diseases – IgCares

  https://igcares.com/home/education-types-of-primary-immunodeficiency.html

  They are also at an increased risk for developing all types of cancers, but especially those of the immune system (lymphomas or leukemias). […] Infections in CGD may involve any organ or tissue, but the skin, lungs, lymph nodes, liver and bones are the usual sites. […] Infections may rupture and drain with delayed healing and residual scarring. […] CVID should be suspected in children or adults who have a history of recurrent bacterial infections involving ears, sinuses, bronchi and lungs. […] Gastrointestinal complaints such as abdominal pain, bloating, nausea, vomiting, diarrhea and weight loss are not uncommon in CVID. […] Patients with CVID may have an increased risk of cancer, especially cancer of the lymphoid system or gastrointestinal tract. […] The severity of heart disease is usually the most important determining factor.

• #31 Common Variable Immunodeficiency (CVID) | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/common-variable-immunodeficiency-cvid-0

  The goal of treatment for CVID is to control the symptoms and improve the quality of your childs life. Most children with CVID will need aggressive treatment to combat infections. […] Children with CVID are more likely to develop: Autoimmune disorders, Chronic lung complications from repeated infections, Obstructive airway disease, Cancer, Endocrine abnormalities, GI problems, Other disorders. […] While there is no cure for common variable immunodeficiency, many people can live active and fulfilling lives with ongoing treatment. The lifespan of affected individuals has been greatly lengthened since immunoglobulin replacement therapy became the standard of care. CVID complications may affect life expectancy, but typically appear over time.

• #32 Primary Immunodeficiency (PID) – Australasian Society of Clinical Immunology and Allergy (ASCIA)

  https://www.allergy.org.au/patients/immunodeficiencies/primary-immunodeficiency

  X-linked agammaglobulinaemia is an antibody deficiency that is usually diagnosed in male infants. Common symptoms include frequent pus producing infections of the ears, lungs, sinuses and bones, chronic diarrhoea and poor growth. […] Severe combined immunodeficiency (SCID) is the most serious of these disorders. SCID is usually diagnosed within the first year of life and requires a haematopoietic stem cell transplant (HSCT) to survive. […] Chronic granulomatous disease (CGD) is the most serious form of phagocytic cell deficiency. In CGD neutrophils cant capture and kill germs. People with CGD have frequent and severe infections of the skin, lungs, and bones. They can also develop chronic inflammation, including inflammatory bowel disease (IBD). […] Immune dysregulation includes a broad group of disorders that occur when the bodys immune system is not being controlled normally and may react against its own cells. People with immune dysregulation can have fever, damage to organs or blood cells, and increased risk of infection.

• #33 Types of PI | Immune Deficiency Foundation

  https://primaryimmune.org/understanding-primary-immunodeficiency/types-of-pi

  Congenital athymia is an ultra-rare condition in which children are born without a thymus, causing severe immunodeficiency and immune dysregulation. […] Individuals with a complement deficiency can have clinical problems that are a result of the role that the specific complement protein plays in the normal function of the human body. […] Individuals with selective IgM deficiency have low levels or lack immunoglobulin M (IgM) but have normal levels of IgA, and IgG. These individuals may have no illness, whereas others develop a variety of illnesses, including infections, allergies, and autoimmunity. […] Severe combined immune deficiency (SCID) is a life-threatening primary immunodeficiency (PI), with a combined absence of T cell and B cell function. There are at least 20 different genetic variants that can cause SCID.

• #34 Primary Immunodeficiencies | AAFP

  https://www.aafp.org/pubs/afp/issues/2003/1115/p2001.html

  Affected patients often present early in life with failure to thrive and disseminated infection. […] General features of this class of diseases include overwhelming viral and fungal infections. […] Chronic granulomatous disease, the most frequently diagnosed phagocytic primary immunodeficiency, is more common in males than in females. […] Patients with chronic granulomatous disease are more susceptible to infection with catalase-positive organisms (e.g., staphylococci) that require phagocytic activity for clearance. […] Patients with primary immunodeficiencies should not receive live virus vaccines, including live oral poliovirus vaccine (OPV).

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

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

  Chronic granulomatous disease is the most common phagocytic disorder in the ESID registry. It is usually diagnosed by five years of age, and is characterized by pneumonia, abscesses, suppurative adenitis, and gastrointestinal infections. […] Severe congenital neutropenia and leukocyte adhesion deficiency type 1 are phagocytic disorders that usually present within the first few weeks of life. […] Complement disorders involve infections with encapsulated organisms. A deficiency of C3 is associated with recurrent pyogenic infections with S. pneumoniae and H. influenzae.

• #36 Types of PI – Immunodeficiency Canada

  https://immunodeficiency.ca/primary-immunodeficiency/types-of-pi/

  Individuals with antibody deficiencies tend to get upper respiratory infections or infections of the sinuses or lungs. […] A major symptom is a deficient immune system, often making those with A-T susceptible to lung infections. […] Recurrent infections are common in people with this condition. […] Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. […] Individuals with ARA are prone to infections, especially of the middle ear (otitis), sinuses (sinusitis), and lungs (pneumonia, bronchitis). […] Individuals with CGD get too many immune cells that form knots (granulomas). […] Individuals with CGD experience chronic inflammation, even when no infection is present. […] Individuals with CMC are at risk of developing a more severe condition, systemic candidiasis, which infects the bloodstream.

• #37 Primary Immunodeficiency (PID) – Australasian Society of Clinical Immunology and Allergy (ASCIA)

  https://www.allergy.org.au/patients/immunodeficiencies/primary-immunodeficiency

  Hereditary angioedema (HAE) is a different sort of a complement disorder, that is due to C1 esterase inhibitor deficiency. In people with HAE, the small blood vessels leak fluid into the tissues, causing non-itchy swellings known as angioedema. People with HAE can have unpredictable and sometimes severe swellings (HAE attacks) throughout life, that may be life threatening.

• #38 Primary Immunodeficiency (PID) | Binding Site

  https://www.thermofisher.com/bindingsite/us/en/clinical-applications/immune-system-disorder/primary-immunodeficiency.html

  Several signs can lead a clinician to suspect an immunodeficiency. They are often diagnosed after too many infections. Due to the defects in their immune systems, people with PID are more prone to infections caused by microorganisms such as bacteria, viruses, fungi and protozoa. […] PID can present in infancy, childhood, or adulthood, depending on the specific genetic mutation or protein defect. Most PIDs are diagnosed in later life, even though some can be detected in infancy or childhood. Diagnosing PID requires good clinical awareness and specialized laboratory testing, and early diagnosis may help reduce morbidity and mortality. […] Delays in diagnosis and treatment are associated with poor outcomes and serious complications. Organ damage is possible if PID is not diagnosed early enough.

• #39 Primary Immunodeficiency (PID) | Binding Site

  https://www.thermofisher.com/bindingsite/us/en/clinical-applications/immune-system-disorder/primary-immunodeficiency.html

  Complications of delayed diagnosis include: Severe, persistent infections, Autoimmune disorders, Damage to the lungs, heart, nervous system, or digestive tract, Growth disorders, Increased risk of cancer, Death from serious infection. […] The longer the delay, the worse the prognosis can be for these patients.

• #40 Approach to the Patient With Suspected Immunodeficiency – Immunology; Allergic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/approach-to-the-patient-with-suspected-immunodeficiency

  In general, the earlier the age at onset in children, the more severe the immunodeficiency. […] Prognosis depends on the primary immunodeficiency disorder. […] Most patients with an Ig or a complement deficiency have a good prognosis with a near-normal life expectancy if they are diagnosed early, are treated appropriately, and have no coexisting chronic disorders (eg, pulmonary disorders such as bronchiectasis). […] Other immunodeficient patients (eg, those with a phagocytic cell defect or combined immunodeficiencies, such as Wiskott-Aldrich syndrome or ataxia-telangiectasia) have a guarded prognosis; most require intensive and frequent treatment. […] Some immunodeficient patients (eg, those with SCID) die during infancy unless immunity is provided through stem cell transplantation. […] If SCID is diagnosed before patients reach age 3 months, transplantation of stem cells from a matched or half-matched (haploidentical) relative is lifesaving in 95%.

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