Materiały źródłowe

• #1 Common Variable Immunodeficiency (CVID): Cause & Treatment

  https://my.clevelandclinic.org/health/diseases/21143-common-variable-immunodeficiency-cvid

  Common variable immunodeficiency (CVID) is a group of genetic diseases where your immune cells dont make antibodies. Without antibodies, people with CVID get frequent infections. […] People with CVID have frequent respiratory, ear and sinus infections. Vaccines are also ineffective because your immune system cant respond to them by making antibodies. […] In addition to frequent infections which are sometimes hard to treat CVID increases your risk of developing other life-threatening conditions. This includes severe lung disease and certain cancers. […] The most common sign of CVID is frequent infections most commonly, sinusitis, pneumonia, bronchitis, ear infections and shingles. […] Low levels of antibodies mean your body cant fight off infections as easily. And since your bodys way of making antibodies doesnt work, vaccines arent effective at helping your body create immunity to diseases.

• #2 Common variable immunodeficiency – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/common-variable-immunodeficiency/symptoms-causes/syc-20355821

  Common variable immunodeficiency, also called CVID, is an immune system disorder that causes low levels of the proteins in the body that help fight infections. People with CVID have repeated infections in the ears, sinuses and the system for breathing, called the respiratory system. […] How bad symptoms are varies greatly between people with CVID. Symptoms of common variable immunodeficiency may appear during childhood or the teen years. But many people don’t get symptoms until they’re adults. […] If you have CVID, you’ll likely have repeated infections before being diagnosed. The most common types of infections include pneumonia, sinusitis, ear infections and gastrointestinal infections.

• #3 Common Variable Immunodeficiency (CVID) | NIAID: National Institute of Allergy and Infectious Diseases

  https://www.niaid.nih.gov/diseases-conditions/common-variable-immunodeficiency-cvid

  People with CVID may experience frequent bacterial and viral infections of the upper airway, sinuses, and lungs. […] Acute lung infections can cause pneumonia, and long-term lung infections may cause a chronic form of bronchitis known as bronchiectasis, which is characterized by thickened airway walls colonized by bacteria. […] People with CVID also may have diarrhea, problems absorbing food nutrients, reduced liver function, and impaired blood flow to the liver. […] Autoimmune problems that cause reduced levels of blood cells or platelets also may occur. […] People with CVID may develop an enlarged spleen and swollen glands or lymph nodes, as well as painful swollen joints in the knee, ankle, elbow, or wrist. […] In addition, people with CVID may have an increased risk of developing some cancers.

• #4 Common Variable Immunodeficiency

  https://www.aaaai.org/conditions-treatments/primary-immunodeficiency-disease/common-variable-immunodeficiency

  Common variable immunodeficiency (CVID) is an antibody deficiency that leaves the immune system unable to defend against bacteria and viruses, resulting in recurrent and often severe infections primarily affecting the ears, sinuses, and respiratory tract (sinopulmonary infections). […] The severity of symptoms varies from one person with the disease to another. […] CVID can be associated with autoimmune disorders that affect other blood cells causing low numbers of white cells or platelets, anemia, arthritis and other conditions such as endocrine disorders. […] Gastrointestinal problems including chronic diarrhea, weight loss, nausea, vomiting and abdominal pain can also be present. […] Recurrent pneumonia and chronic infections in the lungs can lead to lung damage called bronchiectasis, which can complicate treatment. […] CVID may be suspected in children or adults with a history of recurrent infections involving the lungs, bronchi, ears or sinuses.

• #5 Common Variable Immunodeficiency (CVID) – Immune Disorders – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/immune-disorders/immunodeficiency-disorders/common-variable-immunodeficiency-cvid

  Common variable immunodeficiency is an immunodeficiency disorder characterized by very low antibody (immunoglobulin) levels despite a normal number of B cells (the type of white blood cell that makes antibodies). […] People with common variable immunodeficiency may have a chronic cough, cough up blood, or have difficulty breathing (due to frequent sinus and lung infections) and may have diarrhea. […] Recurring sinus and lung infections, particularly pneumonia, are common. People may develop a chronic cough, cough up blood, or have difficulty breathing. People with common variable immunodeficiency who have frequent lung infections can develop bronchiectasis in which the airways become widened (dilated), making it more difficult to clear mucus and to move air in and out of the lungs. […] Diarrhea may occur, and food may not be absorbed well from the digestive tract. The spleen may enlarge. […] Most people have a normal life span, but if another disorder, such as lymphoma or an autoimmune disorder develops and is hard to treat, life span may be shortened.

• #6 What Is Common Variable Immunodeficiency (CVID)? | SELF

  https://www.self.com/story/what-is-common-variable-immunodeficiency-cvid

  Symptoms can vary widely but often include frequent infections, intense fatigue, and GI issues. People with CVID have an impaired immune system that makes them more likely to develop recurrent bacterial and viral infectionsespecially in the lungs, sinuses, ears, and gastrointestinal (GI) tract, according to the US National Library of Medicine. CVID is sneaky. Many people dont show signs of the disorder until their 20s or 30s. Frequent infections could also mean that your immune system is compromised, according to the American Academy of Allergy, Asthma, and Immunology (AAAA). People with CVID tend to have abnormally low levels of immunoglobulins, or infection-fighting antibodies, in their blood. This can sometimes lead to longer, more severe, or recurrent periods of illness, according to the AAAA. CVID flares up in a number of ways. Here are some that doctors frequently see: Frequent sinus infections: If you get these time and time again, or if you have a hard time recovering from each bout of sickness, thats cause for concern. Frequent ear infections: These are especially noteworthy. Breathing problems: This could manifest as chronic cough or an infection like bronchitis. Frequent gastrointestinal problems: A person with CVID might experience diarrhea, abdominal pain, bloating, nausea, vomiting, or unintended weight loss. Pneumonia: Some research suggests that over half of people diagnosed with CVID will have this lung infection at some point in their lives. Recurrent pneumonia, by all means, would be a red flag for CVID. Fatigue: Research suggests that most people with CVID will experience periods of low energy that negatively affect their well-being. If you have CVID, you might only have one or a few of the symptoms aboveor you might experience all of them.

• #7 Common Variable Immunodeficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549787/

  Patients may suffer the following clinical manifestations at disease onset or throughout life: Infections: common organisms like Haemophilus influenzae, Streptococcus, Moraxella catarrhalis, and Staphylococcus aureus; and uncommon organisms like Pneumocystis jirovecii and Mycoplasma pneumoniae: Sinopulmonary infections that can be recurrent and result in bronchiectasis: pneumonia, bronchitis, sinusitis. […] The most frequent complications are associated with pulmonary disease. Therefore most patients with respiratory symptoms must be initially evaluated through HRCT. […] Prognosis in these patients is determined by the existence of pulmonary complications (respiratory failure due to chronic pulmonary disease) and malignancy (especially lymphoid), in which the appropriate and early therapy can prevent or slow down their development. […] The overall risk for developing cancer is estimated to range from 4% to 25%, and estimates of the incidence of malignancy are at around 10%, with a higher risk in adult-diagnosed CVID.

• #8 Common variable immune deficiency (CVID) – Australasian Society of Clinical Immunology and Allergy (ASCIA)

  https://www.allergy.org.au/patients/immunodeficiencies/common-variable-immune-deficiency-cvid

  CVID affects both males and females. Many people with CVID are not diagnosed until they are adults, however symptoms of CVID may appear in childhood. […] Most people with CVID have frequent infections due to their reduced antibody responses. These infections usually occur in the ears, sinuses, nose, and lungs. Other common infections in CVID include conjunctivitis, and persistent diarrhea. Unusual infections may also occur, including meningitis and blood stream infection. […] Infections that are not treated properly in people with CVID can result in damage to organs, such as the sinuses – causing chronic sinusitis and airways of the lung (bronchi) – causing bronchiectasis. […] This organ damage can lead to tissue damage, causing ongoing mucus secretion, and the persistent need to clear phlegm (sputum) or thick white, yellow, or green mucus from the nose. Once tissue damage is established, infection tends to become more persistent and difficult to clear.

• #9 Common Variable Immunodeficiency (CVID)

  https://www.nufactor.com/conditions/immune-deficiency/common-variable-immunodeficiency-cvid.html

  Common Variable Immunodeficiency (CVID) is one of the most frequently diagnosed primary immune deficiencies and is characterized by low immunoglobulin levels, resulting in an increased susceptibility to recurring infections. […] The usual presenting features of Common Variable Immunodeficiency (CVID) are recurrent infections involving the ears, nasal sinuses, bronchi (breathing tubes) and lungs (respiratory tract). When the lung infections are severe and occur repeatedly, permanent damage with widening and scarring of the bronchial tree, a condition termed bronchiectasis, may develop. […] While 20% of patients have symptoms of the disease in childhood, the majority of patients are diagnosed in their 30s or 40s.

• #10 Common Variable Immunodeficiency – The Rheumatologist

  https://www.the-rheumatologist.org/article/common-variable-immunodeficiency/?singlepage=1

  Common variable immunodeficiency (CVID) has been recognized as the most common symptomatic form of antibody deficiency diagnosed in adulthood since its first description by Janeway and colleagues. The clinical spectrum of CVID is heterogeneous, but this condition is usually characterized by hypogammaglobulinemia and recurrent bacterial infections. […] The mean age of onset for the majority of patients is about 23 for men and 28 for women. There is a significant delayfour to six years on averagebetween the median age of symptom onset and the age at diagnosis. […] One key characteristic of this disease is an impaired ability to produce antibodies. This disturbance manifests in decreased levels of immunoglobulin (Ig) G, IgA, and, sometimes, IgM isotypes and in an impaired or even absent antibody response upon antigenic challenge. This results in a failure to respond to vaccinations and an increased susceptibility to infections. Infections are usually localized in the respiratory tract and a majority of patients have recurrent bronchitis, sinusitis, or otitis (which is more common in childhood-onset CVID), and have had one or more episodes of pneumonia.

• #10 Common Variable Immunodeficiency – The Rheumatologist

  https://www.the-rheumatologist.org/article/common-variable-immunodeficiency/?singlepage=1

  Gastrointestinal diseases are frequent in CVID patients and manifest as chronic diarrhea, malabsorption, and weight loss. A significant number of patients suffer from inflammatory bowel disease. […] The increased risk of developing autoimmune diseases underscores the sometimes paradoxical immune disregulation observed in CVID patients. The most common autoimmune manifestations in CVID are idiopathic thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA). […] CVID patients have an increased risk of developing malignancies, especially lymphoma and gastric cancer, and patients should be screened regularly for these potential complications. […] The lung represents the Achilles heel of the CVID patient and chronic lung damage (e.g., bronchiectasis, lung fibrosis, and emphysema) is one of the most common causes of morbidity and mortality in the CVID cohort. […] High-resolution computer tomography is the method of choice to evaluate and monitor the status and progression of lung-related pathology in CVID patients.

• #11 Common Variable Immunodeficiency (CVID): Diagnosis and More

  https://www.verywellhealth.com/common-variable-immunodeficiency-overview-and-more-5202552

  As a result, diagnosis can be delayed from four to nine years after symptoms begin. […] This is a significant issue, because the longer CVID goes untreated, the more complications can form, which can impact life expectancy. […] However, some factors may reduce a person’s life expectancy. These include: higher age at diagnosis, lower B-cells, lower baseline IgG at diagnosis, complications such as structural lung damage (bronchiectasis or granulomas), chronic hepatitis, lymphoma, or chronic gastrointestinal diseases. […] As a result, it’s important to receive a prompt diagnosis of CVID to prevent these complications.

• #12 Common variable immunodeficiency – an update | Arthritis Research & Therapy | Full Text

  https://arthritis-research.biomedcentral.com/articles/10.1186/ar4032

  Common variable immunodeficiency (CVID) describes a heterogeneous subset of hypogammaglobulinemias of unknown etiology. Typically, patients present with recurrent bacterial infections of the respiratory and gastrointestinal tract. A significant proportion of CVID patients develops additional autoimmune, inflammatory or lymphoproliferative complications. CVID is the most frequent symptomatic primary immunodeficiency encountered in adults. […] The most common symptoms are severe, recurrent and sometimes chronic bacterial infections mainly of the respiratory and gastrointestinal tracts. […] Over 90% of CVID patients suffer from an increased susceptibility to bacterial pathogens affecting mucous membranes of the upper and lower airways and, to a lesser extent, of the gastrointestinal tract.

• #12 Common variable immunodeficiency – an update | Arthritis Research & Therapy | Full Text

  https://arthritis-research.biomedcentral.com/articles/10.1186/ar4032

  Approximately 10 to 20% of CVID patients develop granulomatous interstitial lung disease. […] Diarrhea is un-bloody if associated with a sprue-like disease and bloody when resulting from chronic inflammatory bowel disease. […] Autoimmunity is present in about 30% of CVID patients. […] Benign lymphoproliferation is found in 40 to 50% of CVID patients, often as splenomegaly, and in approximately 10 to 20% as local or diffuse lymphadenopathy. […] The life expectancy of CVID patients has considerably improved over the past 30 years, from initially 12 years to currently over 50 years.

• #13 Common Variable Immunodeficiency: Signs and Symptoms

  https://www.verywellhealth.com/common-variable-immunodeficiency-symptoms-signs-and-symptoms-5200371

  Common variable immunodeficiency (CVID) is a disorder affecting the immune system that reduces your ability to fight infections. The hallmark of CVID is recurrent or severe infections. […] The primary symptom of this disease is recurrent viral or bacterial infections. Research shows that over 90% of people with CVID have increased susceptibility to infections of the upper airway, sinuses, lungs, or gastrointestinal tract, making this the most common sign of the disease. […] Over time, you may also notice that these symptoms of infection get worse and cause other complications. […] Complications are common with CVID. It is essential that they are managed promptly and properly, because they can make the condition more dangerous. […] Unfortunately, by this point, a person may have already developed some complications as a result of recurrent infections.

• #13 Common Variable Immunodeficiency: Signs and Symptoms

  https://www.verywellhealth.com/common-variable-immunodeficiency-symptoms-signs-and-symptoms-5200371

  Possible complications of CVID include: Bronchiectasis: Recurrent lung infections or pneumonia can cause bronchiectasis, which is considered an obstructive lung disease. […] People with CVID have a greater risk of developing cancer, particularly lymphoma. Stomach and other gastrointestinal cancers are also found at a higher rate in people with CVID. […] Certain CVID complications are associated with a lower life expectancy.

• #14 Common Variable Immunodeficiency (CVID) – Immunology; Allergic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/common-variable-immunodeficiency-cvid

  Patients with CVID have recurrent sinopulmonary infections that cause sinus congestion and pressure, cough, shortness of breath, chest pain, mucus production, fevers, chills, and/or lymphadenopathy. […] Common variable immunodeficiency (CVID) is characterized by low immunoglobulin (Ig) levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. […] Diagnosis is based mainly on serum Ig levels. […] CVID is clinically similar to X-linked agammaglobulinemia in the types of infections that develop, but onset tends to be later (typically between ages 20 and 40 years). […] Impaired T-cell immunity also may be present in some patients. […] Patients also may develop malabsorption, nodular lymphoid hyperplasia of the gastrointestinal tract, systemic granulomatous inflammation, lymphocytic interstitial pneumonia, splenomegaly, and/or bronchiectasis. […] Gastric carcinoma or lymphoma occurs in 10% of patients.

• #15 Common Variable Immunodeficiency: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1051103-overview

  Common variable immunodeficiency (CVID) is a disorder that involves the following: Low levels of most or all of the immunoglobulin (Ig) classes. Lack of B lymphocytes or plasma cells that are capable of producing antibodies. Frequent bacterial infections. A diagnosis of CVID is reserved for persons with an undefined B-cell dysfunction. Lymphoma is a common cause of death in patients with CVID. Three complications must be considered in patients with CVID: Recurrent infections – Permanent damage to the bronchi may occur, resulting in bronchiectasis. Autoimmune phenomena – As many as 20% of patients with CVID develop autoimmune complications; rheumatoid arthritis, vitiligo, hemolytic anemia, thrombocytopenia, neutropenia, pyoderma gangrenosum, and gastrointestinal diseases have been associated with CVID. Malignancy – Lymphomas of a B-cell phenotype are of particular concern. The prognosis depends on the presence of severe autoimmune disease, recurrent infections causing structural lung damage, and the development of a malignancy. A 20-year survival rate is 64% for male patients and 67% for female patients. In general, the expected survival rate for male and female patients is 92% and 94%, respectively. Death may result from various causes. Other major factors in determining the prognosis is the extent of end-organ damage and the success of prophylaxis against future infections. Polyclonal lymphocytic infiltration is a clinical predictor associated with a 5-fold increased risk of lymphoid malignancy. Elevated serum IgM and reduced circulating CD8 proportions may be predictive markers for polyclonal lymphocytic infiltration and autoimmunity. Those who develop granulomatous lymphocytic interstitial lung disease tend to experience early mortality. Clues to this complication may include splenomegaly and a low serum IgA level.

• #16 What Is Common Variable Immunodeficiency (CVID)?

  https://www.webmd.com/a-to-z-guides/what-is-common-variable-immunodeficiency-cvid

  When your immune system doesn’t function as it should, you’re more likely to have serious, sometimes life-threatening conditions than people who don’t have CVID. […] About 1 in 4 people with CVID tend to get an autoimmune condition. […] CVID increases your risk for specific cancers like lymphoma or stomach cancer. […] Repeated lung infections can damage the tubes in your lungs and widen them to create pouch-like nooks. This causes you to cough up pus a lot and makes it harder for you to get rid of built-up mucus.

• #17 Gastrointestinal manifestations of common variable immunodeficiency – Mayo Clinic

  https://www.mayoclinic.org/medical-professionals/digestive-diseases/news/gastrointestinal-manifestations-of-common-variable-immunodeficiency/mqc-20541542

  Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder characterized by decreased levels of serum immunoglobulin (Ig), with an estimated prevalence of 1 in 25,000 individuals. […] Patients with CVID are at increased risk of impaired antibody responses, as well as noninfectious, inflammatory manifestations. […] Antibody deficiencies associated with CVID can lead to recurrent infections of the upper respiratory and gastrointestinal (GI) tracts. […] Noninfectious complications affect at least 50% of individuals with CVID and can include autoimmune disorders, lung diseases, gastrointestinal and hepatic disorders, granulomatous diseases, lymphoproliferative disorders, and malignancy. […] Most patients experience symptoms for 5 to 9 years before the diagnosis. […] Between 9% and 34% of patients diagnosed with CVID have immune dysregulation causing symptomatic GI inflammation.

• #18 Common Variable Immunodeficiency (CVID): Comprehensive Guide

  https://www.rupahealth.com/post/common-variable-immunodeficiency-cvid-comprehensive-guide

  These infections often affect the sinuses, lungs, ears, and gastrointestinal tract, leading to chronic respiratory problems such as pneumonia and bronchitis. […] Gastrointestinal issues are another common manifestation of CVID. Many patients experience chronic diarrhea, bloating, and malabsorption, which can lead to nutrient deficiencies and weight loss. […] Autoimmune disorders are common in people with CVID. […] Some individuals also develop chronic lung disease, leading to progressive breathing difficulties. […] Diagnosing CVID requires clinical evaluation, laboratory tests, and medical history analysis. […] Blood tests are critical in diagnosis. To check for deficiencies, Doctors measure immunoglobulin (antibody) levels, specifically IgG, IgA, and IgM. In CVID, IgG levels are consistently low, while IgA and IgM levels may also be reduced.

• #18 Common Variable Immunodeficiency (CVID): Comprehensive Guide

  https://www.rupahealth.com/post/common-variable-immunodeficiency-cvid-comprehensive-guide

  CVID is a primary immunodeficiency disorder that weakens the body’s ability to produce antibodies, making it harder to fight infectionspeople with CVID experience recurrent infections, particularly in the sinuses, lungs, and gastrointestinal tract. […] The severity of the condition varies from person to person. Some individuals experience only mild infections, while others face more complex health challenges, including autoimmune conditions, lung disease, and digestive issues. […] CVID symptoms can vary widely, making diagnosis challenging. Some individuals experience frequent infections, while others develop autoimmune or digestive issues. […] CVID symptoms vary widely, but the most common sign is recurrent infections due to the immune system’s inability to produce enough antibodies.

• #19 Gastrointestinal manifestations of common variable immunodeficiency – Mayo Clinic

  https://www.mayoclinic.org/medical-professionals/digestive-diseases/news/gastrointestinal-manifestations-of-common-variable-immunodeficiency/mqc-20541542

  Infectious and noninfectious complications associated with CVID involving the GI tract can mimic celiac disease, inflammatory bowel disease, pernicious anemia and other disorders. […] Early identification and treatment are critical to improve outcomes of these patients. […] Immunoglobulin replacement therapy has been shown to have a positive impact on the manifestations related to antibody deficiency and infectious complications. […] Many patients with noninfectious complications require treatment with immunosuppressive therapies. […] Management of CVID-related symptoms that mimic inflammatory bowel disease, for example, typically involves steroids, 5-aminosalicylates, thiopurines or biologics.

• #20 Common variable immunodeficiency – Wikipedia

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

  CVID is frequently associated with a variety of autoimmune diseases. They could present as the first or the only clinical manifestation of the disease. […] The patients with CVID have a risk 5 to 12 times higher than the general population. The most frequent malignancies are Non-Hodgkin lymphoma (NHL), gastric carcinoma and leukemia. […] CVID is a lifelong disease. […] The outlook for people varies greatly depending on their level of lung and other organ damage prior to diagnosis and treatment.

• #21 Common Variable Immunodeficiency: Signs, Causes, and More

  https://resources.healthgrades.com/right-care/symptoms-and-conditions/common-variable-immunodeficiency

  People with CVID are typically prone to recurrent infections and some autoimmune disorders. […] People with CVID have a genetic defect in B cells. These are immune cells that produce antibodies. […] This means that they are vulnerable to recurrent bacteria and viral infections. They may experience infections more often. […] Here are some recurrent infections in people with CVID: sinopulmonary infections, such as bronchitis, sinusitis, and bronchiectasis; pneumonia; ear infections; conjunctivitis; septic arthritis; bacterial meningitis; sepsis; skin infections; persistent diarrhea and malabsorption. […] There is also a risk of developing other complications, such as lymphomas and gastric cancers. […] A few people with common variable immunodeficiency may develop the following autoimmune disorders: rheumatoid arthritis, lupus, immune-mediated thrombocytopenia and hemolytic anemia.

• #22 Common Variable Immunodeficiency | Select 5-Minute Pediatrics Topics

  https://www.unboundmedicine.com/5minute/view/Select-5-Minute-Pediatric-Consult/14174/all/Common_Variable_Immunodeficiency?q=Abdominal+pain

  Common variable immunodeficiency is the most common clinically important primary immunodeficiency syndrome, characterized by Low IgG, IgA, and/or IgM, Recurrent infections, and a wide spectrum of immunologic abnormalities, including autoimmune disease, inflammatory conditions, and the development of lymphomas. […] Diagnosis is usually made several years after the onset of recurrent infections (pneumonia, sinusitis, otitis). […] A subgroup of children has been described in which the onset of disease was most often 5 years of age. This group was characterized by a relapsing and remitting course in which autoimmune disease predominated. […] About 20-25% of patients with common variable immunodeficiency have one or more autoimmune conditions at time of diagnosis. […] Deficiency of class-switched memory B cells associated with more complex disease (autoimmunity, granulomatous disease, hypersplenism, and lymphoid hyperplasia). […] Impaired maturation, IL-12 secretion, and upregulation of costimulatory molecules by antigen-presenting cells may impair T cells, which are important for providing help to B cells for antibody production.

• #23 Common variable immunodeficiency

  https://dermnetnz.org/topics/common-variable-immunodeficiency

  Common signs and symptoms of common variable immunodeficiency include: […] Frequent infections of the respiratory tract, especially otitis media, pneumonia and sinusitis […] Bronchiectasis (lung damage) from recurring pneumonia […] Infection (eg giardia) or inflammation of the gastrointestinal tract with secondary symptoms of diarrhoea and weight loss […] Enlarged lymph nodes and spleen […] Noninfectious granulomas in lungs, lymphoid tissue, liver, spleen and eyes […] Increased cancer risk, particularly lymphoma […] Autoimmune disease in 25%, most often thrombocytopenia, haemolytic anaemia and rheumatoid arthritis. […] Patients with common variable immunodeficiency cannot be protected from infectious diseases through vaccination since they cannot mount an antibody response.

• #24 Common Variable Immunodeficiency (CVID): Cause & Treatment

  https://my.clevelandclinic.org/health/diseases/21143-common-variable-immunodeficiency-cvid

  If you have CVID, youll need treatment for the rest of your life to protect yourself from infectious diseases. […] Theres no cure for CVID. But immunoglobulin replacement treatments (IVIg and SCIg) have increased survival rates in the past few decades. […] Studies suggest that most people with CVID (over 75%) are alive 25 years after diagnosis. About half live 45 years or more after their diagnosis. The most common cause of death is lung disease.

• #25 Common Variable Immunodeficiency | Pediatric Research

  https://www.nature.com/articles/pr2009117

  Common variable immunodeficiency is the most prevalent clinically significant antibody deficiency at all ages. The disorder is defined principally by characteristic infection susceptibility with hypogammaglobulinemia and impaired-specific antibody response. Symptoms may begin at any time of life, including the extremes of both young and old age. Major characteristics include recurrent infections, principally bacterial and viral of the respiratory tract. In one recent French registry study (DEFI Study) of 252 patients, 95% had one or more of the following: bronchitis, sinusitis, and pneumonia. Not surprisingly, common bacterial pathogens such as Streptococcus pneumoniae and Hemophilus influenzae were most often isolated. Granulomatous or lymphocytic interstitial lung disease occurs in a subset of patients and may be associated with human herpesvirus 8. Granulomas may also involve other organs and resemble sarcoid. Furthermore, in the DEFI study, 47% of patients had diarrhea (intermittent or chronic); Giardia, Salmonella, and Campylobacter were common isolates. Enteroviral intestinal infections may disseminate and cause meningoencephalitis. Autoimmune disease is common in CVID. The reported prevalences of autoimmune disease ranged from 17 to 50%, and it was present in 27% of the overall patient population. Approximately 10% of patients with CVID have a lymphoproliferative disorder. This manifests most frequently as splenomegaly, lymphadenopathy and interstitial lung disease. The relative risk of lymphoma in patients with CVID compared with the general population is in the range of 10- to 20-fold higher. Survival in the group with infections alone was significantly prolonged in comparison with those with one or more complications. The mean and median ages at onset of symptoms were 26.3 and 24 y, respectively. At diagnosis, these ages were 35.3 and 33 y, respectively. The mean and median years of delay between symptom onset and diagnosis were 7.5 and 5, respectively. Twenty percent of patients were diagnosed more than 15 y of the onset of symptoms, and there was an inverse correlation between the age of onset and the delay in diagnosis. In the DEFI study, the median age at onset of symptoms was 19 y, and median age at diagnosis was 33.9 y. The delay in diagnosis was greatest for patients identified before 1990, in comparison with those diagnosed after 1990, suggesting increased awareness and screening for hypogammaglobulinemia in adults presenting with recurrent infections. Nevertheless, the median delay in diagnosis after the onset of symptoms was still 2.9 y even in the group diagnosed after 1990.

• #26 COVID-19 progression and convalescence in common variable immunodeficiency patients show dysregulated adaptive immune responses and persistent type I interferon and inflammasome activation | Nature Communications

  https://www.nature.com/articles/s41467-024-54732-x

  Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency, marked by hypogammaglobulinemia, poor antibody responses, and increased infection susceptibility. The COVID-19 pandemic provided a unique opportunity to study the effects of prolonged viral infections on the immune responses of CVID patients. Here we use single-cell RNA-seq and spectral flow cytometry of peripheral blood samples before, during, and after SARS-CoV-2 infection showing that COVID-19 CVID patients display a persistent type I interferon signature at convalescence across immune compartments. Alterations in adaptive immunity include sustained activation of nave B cells, increased CD21low B cells, impaired Th1 polarization, CD4+ T central memory exhaustion, and increased CD8+ T cell cytotoxicity. NK cell differentiation is defective, although cytotoxicity remains intact. Monocytes show persistent activation of inflammasome-related genes. These findings suggest the involvement of intact humoral immunity in regulating these processes and might indicate the need for early intervention to manage viral infections in CVID patients.

• #27 COVID-19 progression and convalescence in common variable immunodeficiency patients show dysregulated adaptive immune responses and persistent type I interferon and inflammasome activation | Nature Communications

  https://www.nature.com/articles/s41467-024-54732-x

  The course and outcome of SARS-CoV-2 infection among patients with CVID in comparison with the general population has been a matter of debate. Most studies have reported a benign course of this particular viral infection in most CVID patients, whereas one study found higher mortality rates among IEI patients including CVID patients. In addition, it has been described that immunodeficient individuals, especially those with antibody deficiencies, show a persistent SARS-CoV-2 PCR positivity, as well as increased risks of both first infection and re-infection with SARS-CoV-2 among CVID individuals. […] Our analysis shows an increased type I interferon signature in almost all compartments, altered homeostasis of the entire adaptive immune system, and persistent inflammasome activation in monocytes.

• #28 COVID-19 progression and convalescence in common variable immunodeficiency patients show dysregulated adaptive immune responses and persistent type I interferon and inflammasome activation | Nature Communications

  https://www.nature.com/articles/s41467-024-54732-x

  Altogether, following SARS-CoV-2 infection, the B cell compartment of CVID patients exhibits an impaired activation of the canonical NF-B signaling pathway and a dysregulated expression of several components of the BCR signaling pathway, possibly mediated by a higher activity of PAX5. In addition, CVID patients show a sustained type I IFN response signature at convalescence. Together with the described phenotypic alterations, these findings suggest a persistent activation of nave B cells with increased differentiation into T-bethighCD21low B cells. However, the specific triggers and pathogenesis of these changes in the general B-cell compartment remain to be identified. […] Taken together, our findings show a persistent type I IFN signature in CD4+ T cells at convalescence in CVID patients compared with non-CVID. Furthermore, we observed that during SARS-CoV-2 infection, the CD4+ T cell compartment of patients with CVID exhibits a defective increase of Th1 polarization, a higher abundance of TIGIThi PD-1hi central memory cells, a compromised CD40L/CD40 receptor/ligand interaction, and an impaired expression of CD25 and CCR4 especially on CD4+ TCM cells within the cluster TC#3.

• #29 COVID-19 progression and convalescence in common variable immunodeficiency patients show dysregulated adaptive immune responses and persistent type I interferon and inflammasome activation | Nature Communications

  https://www.nature.com/articles/s41467-024-54732-x

  Overall, these results indicate distinct effects on the different CD8+ T cell subsets during viral infection and convalescence phase. Most remarkably, the cytotoxic CD8+ T cell compartment in CVID patients show a strong and specific clonal expansion upon SARS-CoV-2 infection, together with a general larger CD8+ T effector compartment compared to non-CVID individuals. In addition, CD8+ T cells from CVID patients display lower levels of the receptor CCR5, but increased levels of the cytotoxic molecules granzyme B and perforin during SARS-CoV-2 infection in the entire CD8+ memory T cell compartment, and at convalescence in the highly cytotoxic CD8+ TEMRA subset TC#16. […] All these results indicate that upregulation and persistent activation of specific inflammasome genes is a feature of the monocytic compartment in COVID-19 CVID patients, although we could detect increased caspase-1 activity only during the viral infection. In addition, the crosstalk between monocytes and B cells through BAFF and APRIL pathways is disrupted in CVID patients during progression. Finally, monocytes from CVID patients show increased antigen presenting and costimulatory molecules but also higher PD-1 levels during SARS-CoV-2 infection than non-CVID individuals.

• #30

  https://link.springer.com/article/10.1007/s10875-024-01656-2

  The long-term effects of SARS-CoV-2 infection represent a relevant global health problem. Long COVID (LC) is defined as a complex of signs and symptoms developed during or after SARS-CoV-2 infection and lasting 12 weeks. In common variable immunodeficiency (CVID) patients, we previously reported higher risk of hospitalization and death during SARS-CoV-2 infection, as well as prolonged swab positivity and frequent reinfections. […] In the enrolled cohort of 175 CVID patients, we found a high prevalence of LC (65.7%). The most frequent LC symptoms were fatigue (75.7%), arthralgia/myalgia (48.7%), and dyspnea (41.7%). The majority of patients (60%) experienced prolonged symptoms, for at least 6 months after infection. […] In conclusion, in this multicenter observational cohort study, we demonstrated that CVID patients present an increased prevalence of LC when compared to the general population. Improved awareness on the risk of LC in CVID patients could optimize management of this new and alarming complication of SARS-CoV-2 infection.

• #31

  https://link.springer.com/article/10.1007/s10875-024-01656-2

  The most frequent symptoms reported in the LC survey were fatigue in 87 patients (75.7%), arthralgia/myalgia in 56 patients (48.7%), and dyspnea in 48 patients (41.7%). Of note, 89 patients (77.39%) had at least three symptoms and 66 patients (57.4%) had more than three symptoms of LC. Interestingly, the LC symptoms lasted more than 6 months in 69 patients (60%) and 59 patients (51.3%) declared persistence of symptoms at the moment of the present survey. […] In our CVID cohort, we found a high prevalence of LC, particularly in those patients with a complicated phenotype. LC is emerging as a frequent complication of SARS-CoV-2 infection; however, research on the topic is still limited. […] In our CVID cohort, prevalence of LC seems to be higher than in the general population (65.7% of the cohort who responded to the survey vs 11% reported in the general adult US population or 10-20% reported by the WHO).

• #32

  https://link.springer.com/article/10.1007/s10875-024-01656-2

  Dyspnea, fatigue, and arthralgia/myalgia were the most frequent LC reported symptoms in our CVID cohort, and 57.4% of our patients had more than three LC symptoms. Dyspnea and fatigue are known complications that worsen the quality of life of patients with chronic conditions and primary immunodeficiencies.

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

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

  Common variable immunodeficiency (CVID) is a disease of the immune system. People with CVID cant make enough antibodies to fight infections. This makes them more vulnerable to infections. Children with CVID are more like to get infections, take longer to recover from infections and have a great chance of getting pneumonia. […] Symptoms of CVID are often like other childhood illnesses but may last longer and be more severe. […] Symptoms may include: Repeated sinus, lung and respiratory infections, Ear and eye infections, Skin infections, Nausea, vomiting and/or diarrhea, Trouble gaining weight, Slow growth. […] Diagnosing common variable immunodeficiency can be challenging. Many of its symptoms mimic other common conditions and generally are not serious. When symptoms last longer than common childhood illnesses or are more severe consider talking to your childs doctor.

• #34 Common Variable Immunodeficiency | Choose the Right Test

  https://arupconsult.com/content/common-variable-immune-deficiency-syndromes

  Common variable immunodeficiency (CVID), the most common clinically significant primary immunodeficiency disease (PID), manifests in children and adults with a wide variability of symptoms and range of severity. CVID is characterized by recurrent or chronic infections (especially bacterial sinopulmonary infections), gastrointestinal complications, and in some, autoimmune disease, granulomatous disease, or enteropathy without recurrent infections. […] Early identification and initiation of treatment with intravenous and subcutaneous immunoglobulin can improve both the quality of life and longevity of patients with CVID. […] The majority of individuals with common variable immunodeficiency (CVID) are diagnosed after childhood. Current diagnostic criteria advise caution when considering a diagnosis of CVID in a child younger than 4 years old. In young children, the immune system may not have matured sufficiently. Still, pediatric CVID is a serious condition and presents a diagnostic challenge, considering the immaturity of the immune system and possible inborn errors of immunity. Therefore, regular monitoring is imperative to make an expedient diagnosis and ensure that treatment can begin before further damage occurs.

• #35 Treatment and prognosis of common variable immunodeficiency – UpToDate

  https://www.uptodate.com/contents/treatment-and-prognosis-of-common-variable-immunodeficiency

  Common variable immunodeficiency (CVID) is an immune disorder characterized by impaired B cell differentiation with hypogammaglobulinemia. The disorder is associated with a broad spectrum of clinical manifestations, including recurrent infections, chronic lung disease, gastrointestinal disease, and autoimmune disorders. […] The cornerstone of therapy is immune globulin replacement, which has dramatically altered the clinical course of CVID by reducing the burden of recurrent infections and subsequent complications. Management also involves vigilant monitoring and appropriate treatment for associated problems, such as pulmonary damage, gastrointestinal, autoimmune, and granulomatous diseases, and malignancy. […] The definition of CVID includes individuals with varying degrees of loss of antibody. For those with substantial impairments in immune globulin production (eg, generally two standard deviations below the normal range for immunoglobulin G [IgG]) and nonresponse to both protein and polysaccharide vaccines, immune globulin replacement is necessary. For subjects with higher levels of serum IgG and only minor impairments in response to some vaccines, immune globulin replacement therapy may be postponed, but these patients should be followed closely.

• #36 Common variable immunodeficiency (CVID) in children – Children’s Health Allergy Immunology

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

  Common variable immunodeficiency (CVID) is an antibody deficiency that leaves a childs immune system vulnerable to recurrent infections, autoimmune diseases, lympho-proliferation and cancer. This is one of the most common forms of primary immunodeficiency disease, and severity varies from person to person. […] The signs and symptoms of pediatric common variable immunodeficiency (CVID) include ear infections, sinusitis, pneumonia, chronic diarrhea and weight loss, gastrointestinal infections such as Giardia and Campylobacter, hepatitis, and autoimmune problems involving the blood cells including anemia (low red cells), thrombocytopenia (low platelets), and neutropenia (low white cells). […] If your child is diagnosed with CVID, the doctor will likely administer immunoglobin replacement therapy, which usually relieves symptoms. Your child will need to get these treatments regularly throughout their life.

• #37 Common Variable Immunodeficiency (CVID): Comprehensive Guide

  https://www.rupahealth.com/post/common-variable-immunodeficiency-cvid-comprehensive-guide

  Treatment focuses on immunoglobulin replacement therapy (IVIG or SCIG) to restore antibody levels, along with prophylactic antibiotics and lifestyle adjustments to reduce infections and complications. […] While there is no cure, treatments like immunoglobulin therapy and antibiotics help improve quality of life.

• #38 What Is CVID? Symptoms, Causes, Health Risks & Treatment

  https://www.emedicinehealth.com/what_is_cvid/article_em.htm

  Other signs of CVID may include lab tests showing very low immunoglobulin levels or the number of B cells in the blood, and low antibody responses to immunization. […] Patients with CVID should not receive certain live vaccines (i.e., oral polio, shingles, smallpox, live-attenuated influenza vaccine, yellow fever, or live oral typhoid vaccines), especially those who have significantly impaired T cell function.

• #39 Common variable immune deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency/

  Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. […] People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood. […] Abnormal and deficient immune responses over time likely contribute to the increased cancer risk. In addition, vaccines for diseases such as measles and influenza do not provide protection for people with CVID because they cannot produce an antibody response.

• #40 Common Variable Immunodeficiency: Signs, Causes, and More

  https://resources.healthgrades.com/right-care/symptoms-and-conditions/common-variable-immunodeficiency

  Early diagnosis and prompt intervention are critical to prevent the progression and complication of common variable immunodeficiency. […] The severity and frequency of infection usually affect the future outlook or prognosis of CVID. […] People who start immunoglobulin replacement therapy early typically have a good prognosis. This is because there is a lower risk of disease progression, severe infection, and life threatening complications.

Zobacz więcej