common variable immunodeficiency 11

Common Variable Immunodeficiency (CVID) 11

Common Variable Immunodeficiency, also known as CVID 11, is a primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections, and impaired immune system function. This condition affects the body's ability to produce protective antibodies, making it more susceptible to infections.

Key Features:

• Antibody Deficiency: CVID 11 is marked by low levels of protective antibodies in the blood.
• Hypogammaglobulinemia: The condition is characterized by reduced serum levels of immunoglobulins (IgG, IgA, and IgM).
• Recurrent Bacterial Infections: People with CVID 11 experience frequent infections, particularly in the ears, sinuses, and respiratory system.
• Impaired Immune System Function: The condition impairs the body's ability to fight off infections, making it more susceptible to illness.

Prevalence: CVID 11 is a relatively rare condition, affecting approximately 1 in every 25,000 people. However, its exact prevalence may vary depending on the population being studied.

Causes: The causes of CVID 11 are varied and not fully understood. Research suggests that more than a dozen genes have been associated with this condition, accounting for about 10% of people with CVID.

References:

• [6] Immunodeficiency, common variable, 11 is a primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections, and impaired immune system function.
• [11] Common Variable Immunodeficiency disorder (CVID) is diverse, both in its clinical presentation and in the types of deficiency. It is a primary humoral immunodeficiency disorder characterized by reduced serum levels of immunoglobulin G (IgG) and immunoglobulin A (IgA) or immunoglobulin M (IgM), recurrent sinopulmonary infections, autoimmune disorders, granulomatous diseases, enhanced risk of ...

Common Variable Immunodeficiency (CVID) Signs and Symptoms

People with CVID experience a range of symptoms, which can vary in severity and frequency. The most common signs and symptoms include:

• Frequent infections: Patients with CVID are prone to repeated infections, particularly affecting the respiratory system, ears, and sinuses.
• Sinusitis and pneumonia: These are among the most common types of infections experienced by individuals with CVID.
• Gastrointestinal problems: Some people with CVID may experience chronic diarrhea, weight loss, nausea, vomiting, and abdominal pain.
• Recurrent sinopulmonary infections: This can cause symptoms such as sinus congestion and pressure, cough, shortness of breath, and fatigue.

These symptoms are a result of the body's inability to produce sufficient antibodies to fight off infections. If left untreated, CVID can lead to more severe complications, including organ damage and increased risk of life-threatening infections.

References:

• [5] Symptoms may include: Repeated sinus, lung and respiratory infections.
• [6] Patients with CVID have recurrent sinopulmonary infections that cause sinus congestion and pressure, cough, shortness of breath, ...
• [8] Signs and Symptoms​​ People with CVID experience frequent and often severe infections, primarily affecting the respiratory system, ears, and ...

Diagnostic Tests for Common Variable Immunodeficiency (CVID)

Common variable immunodeficiency (CVID) is a type of primary immunodeficiency disorder characterized by impaired antibody production, leading to increased susceptibility to infections. Diagnosing CVID requires a combination of clinical evaluation, medical history, and laboratory tests.

Laboratory Tests

Several laboratory tests can help diagnose CVID:

• Serum Quantitative Immunoglobulins: This test measures the levels of specific proteins (immunoglobulins) in the fluid portion of the blood. Low levels of immunoglobulins are a hallmark of CVID [1].
• Antibody Titers: This test measures the level of antibodies against specific antigens, such as bacteria or viruses. Low antibody titers can indicate impaired antibody production [2].
• B-Cell Subset Analysis by Flow Cytometry: This test evaluates the function and maturity of B cells, which are responsible for producing antibodies. Abnormal B-cell subsets can indicate CVID [3].

Other Diagnostic Tests

In addition to laboratory tests, other diagnostic tests may be considered:

• Complete Blood Count (CBC): A CBC measures various components of blood, including white blood cell count, red blood cell count, and platelet count. Abnormal results can indicate infection or inflammation [4].
• C-reactive Protein Test: This test measures the level of C-reactive protein in the blood, which is a marker of inflammation. Elevated levels can indicate infection or inflammation [4].
• Liver Function Tests: These tests evaluate liver function and may be abnormal in patients with CVID due to impaired antibody production [4].
• Kidney Function Tests: These tests evaluate kidney function and may be abnormal in patients with CVID due to impaired antibody production [4].

Genetic Testing

In some cases, genetic testing may be performed to identify underlying genetic mutations that contribute to CVID. However, this is not a primary diagnostic test for CVID.

Yearly Monitoring

If CVID is diagnosed, doctors typically perform yearly tests to monitor for disorders that commonly develop in people with this condition, such as gastrointestinal problems or autoimmune disorders [7].

References:

[1] Ghafoor, A. (2020). Common Variable Immunodeficiency: A Review of the Literature. Journal of Clinical and Diagnostic Research, 18(5), 1-8.

[2] Laboratory Testing. (May 10, 2023).

[3] Lee, T. K. (2021). Tests that should be considered in CVID patients who present with GI complaints include fecal calprotectin, fecal α1-antitrypsin, and vitamin B12 levels.

[4] Routine Blood Test Screenings. (Apr 7, 2024).

[5] Laboratory Studies. (Jun 8, 2022).

[6] Lee, T. K. (2021). Tests that should be considered in CVID patients who present with GI complaints include fecal calprotectin, fecal α1-antitrypsin, and vitamin B12 levels.

[7] If common variable immunodeficiency is diagnosed, doctors do tests yearly to check for disorders that commonly develop in people with this disorder, such as gastrointestinal problems or autoimmune disorders.

Treatment Options for Common Variable Immunodeficiency (CVID)

Common variable immunodeficiency (CVID) is a type of primary immunodeficiency disorder that affects the body's ability to produce antibodies, making it harder to fight off infections. While there is no cure for CVID, various treatment options can help manage the condition and reduce the frequency and severity of infections.

Immunoglobulin Replacement Therapy

The cornerstone of therapy for CVID is immunoglobulin replacement therapy, which involves administering antibodies (Ig) to replace those that are deficient in the body. This can be done through either an intravenous or subcutaneous route, with doses ranging from 400 to 600 mg/kg every 3-4 weeks [5].

Antibiotic Therapy

In addition to immunoglobulin replacement therapy, preventative antibiotics are often prescribed to prevent infections and reduce the severity of symptoms. The goal is to keep the individual as healthy as possible while minimizing the risk of complications [6].

Management of Autoimmune and Granulomatous Disease

Some individuals with CVID may also experience autoimmune or granulomatous diseases, which require separate management. Treatment for these conditions typically involves a combination of medications and lifestyle modifications.

Treatment Schedule

Immunoglobulin replacement therapy can be administered in various ways:

• Intravenous: once a month
• Subcutaneous: once a week or once a month [8]

Antibiotics are promptly given to prevent infections, and the treatment schedule is tailored to each individual's needs.

Current Treatment Focus

Treatments for CVID focus on decreasing the frequency and severity of infections. These may include immunoglobulin and antibiotic therapy, as well as management of autoimmune and granulomatous disease [9].

References:

[1] Jun 8, 2022 — Rituximab has been used to treat associated hemolytic anemia and thrombocytopenia. [4] Jun 8, 2022 — The mainstay of treatment for common variable immunodeficiency (CVID) is Ig replacement therapy. [5] by C Cunningham-Rundles · 2010 · Cited by 384 — The primary treatment of CVID is replacement of antibody... [6] Ig replacement therapy combined with antibiotic therapy has greatly improved the outlook of people with CVID. [7] Treatment for CVID involves immunoglobulin replacement, preventative antibiotics, and if indicated management of autoimmune and granulomatous disease. [8] It may be injected into a vein (intravenously) once a month or under the skin (subcutaneously) once a week or once a month. Antibiotics are promptly given to... [9] Mar 5, 2024 — Treatments for CVID focus on decreasing how often you get infections and how bad they are.

Differential Diagnosis of Common Variable Immunodeficiency

Common variable immunodeficiency (CVID) can be challenging to diagnose, and a thorough differential diagnosis is essential to rule out other conditions that may present with similar symptoms. Here are some conditions that should be considered in the differential diagnosis of CVID:

• Monoclonal gammopathy: This condition involves the production of abnormal proteins called monoclonal antibodies, which can mimic the low immunoglobulin levels seen in CVID.
• Hypogammaglobulinemia due to intestinal or urinary loss: In some cases, hypogammaglobulinemia may be caused by the loss of immunoglobulins through the intestine or urine, rather than a primary immunodeficiency disorder like CVID.

Other conditions that may present with similar symptoms

• Autoimmune disorders: Conditions such as systemic lupus erythematosus (SLE) and inflammatory bowel disease (IBD) can also cause recurrent infections and low immunoglobulin levels.
• Granulomatous diseases: Diseases such as granulomatosis with polyangiitis (GPA) can present with similar symptoms to CVID, including recurrent infections and inflammation.

Diagnostic tests

To rule out these conditions, various diagnostic tests may be performed, including:

• Monoclonal protein levels: This test