common variable immunodeficiency 13

Common Variable Immunodeficiency (CVID) Description

Common Variable Immunodeficiency (CVID) is a primary immune deficiency disease characterized by low levels of protective antibodies, making individuals highly susceptible to infections.

• Low antibody levels: CVID is marked by very low levels of specific proteins (immunoglobulins) in the fluid portion of the blood, resulting in a loss of antibodies and an increased risk of infection. [1][2]
• Genetic disorders: CVID is a group of genetic disorders that affect the immune system, leading to impaired antibody production. [3]
• Increased susceptibility: People with CVID are highly susceptible to infections due to their compromised immune system. [4][5]
• Antibody deficiency: CVID is an antibody deficiency disorder that leaves the immune system unable to defend against bacteria and viruses. [6]

Overall, CVID is a relatively frequent form of primary immunodeficiency (PID) disorders, also known as inborn errors of immunity (IEI), which can have significant implications for affected individuals.

Recurring Infections and Respiratory Issues

People with common variable immunodeficiency (CVID) often experience recurring infections, particularly in the sinopulmonary tract, which can lead to severe respiratory issues. Some common signs and symptoms include:

• Recurring sinus and lung infections, especially pneumonia
• Chronic coughing, which may produce blood or mucus
• Difficulty breathing due to bronchiectasis (widened airways)
• Bronchiectasis can make it challenging to clear mucus and move air in and out of the lungs

These symptoms are a result of the immune system's inability to defend against bacteria and viruses, leading to repeated infections. According to [13], people with CVID who experience frequent lung infections may develop bronchiectasis, which can further complicate respiratory issues.

Prevalence and Impact

CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, although the prevalence can vary across different populations [14]. The condition's impact on quality of life should not be underestimated, as recurring infections and respiratory issues can significantly impair daily activities and overall well-being.

References: [13] - Recurring sinus and lung infections, particularly pneumonia, are common in CVID patients. [14] - Estimated prevalence of CVID worldwide.

Diagnostic Tests for Common Variable Immunodeficiency (CVID)

Common variable immunodeficiency (CVID) is a type of primary immunodeficiency characterized by low levels of specific proteins (immunoglobulins) in the fluid portion of the blood, leading to a loss of antibodies and an increased susceptibility to infections. The diagnosis of CVID involves 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 immunoglobulins (IgG, IgA, and IgM) in the blood. Low levels of these proteins are characteristic of CVID [1].
• Antibody Titers: This test measures the level of antibodies against specific antigens. Low antibody titers can indicate a deficiency in antibody production [2].
• B-Cell Subset Analysis by Flow Cytometry: This test evaluates the number and function of B cells, which are responsible for producing antibodies. Abnormalities in B-cell subsets can indicate CVID [3].

Other Diagnostic Tests

In addition to laboratory tests, other diagnostic tests may be performed to rule out differential diagnoses or monitor complications associated with CVID:

• Routine Blood Test Screenings: These include complete blood count (CBC), C-reactive protein test, liver function tests, and kidney function tests. These tests can help identify potential complications or comorbidities [4].
• Genetic Testing: Genetic testing may be performed to identify genetic mutations associated with CVID [5].

Monitoring Complications

If CVID is diagnosed, doctors typically perform yearly blood tests to monitor for disorders that commonly develop in people with this condition, such as gastrointestinal problems, liver disease, or kidney disease [6].

In summary, the diagnosis of CVID involves a combination of clinical evaluation, medical history, and laboratory tests. These tests can help identify low levels of immunoglobulins, abnormal antibody titers, and abnormalities in B-cell subsets.

References:

[1] Ghafoor, A. (2020). Common Variable Immunodeficiency: A Review of the Literature. [Context 1]

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

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

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

[5] Jun 8, 2022 — Laboratory Studies. Common variable immunodeficiency (CVID) can be diagnosed after defective functional antibody formation is obtained. [Context 5]

[6] If common variable immunodeficiency is diagnosed, doctors do tests yearly to check for disorders that commonly develop in people with this disorder... [Context 8]

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: This is the cornerstone of therapy for CVID, as mentioned in [4] (Jun 8, 2022). Immunoglobulin replacement therapy involves administering antibodies (Ig) to replace those that are deficient or absent. The Ig can be administered intravenously once a month or subcutaneously once a week or once a month, as stated in [8].
• Antibiotic Therapy: Preventative antibiotics are often prescribed to prevent infections and reduce the severity of symptoms when they do occur, as mentioned in [3] (Sep 15, 2022) and [9] (Mar 5, 2024).
• Management of Autoimmune and Granulomatous Disease: In some cases, CVID patients may also require treatment for autoimmune or granulomatous diseases that can be associated with the condition, as stated in [7].

It's essential to note that while these treatments can help manage CVID, they are not a cure. Patients will need to continue receiving immunoglobulin replacement therapy and antibiotic therapy for the rest of their lives, as mentioned in [3] (Sep 15, 2022).

References:

[1] Jun 8, 2022 — Rituximab has been used to treat associated hemolytic anemia and thrombocytopenia. [3] Sep 15, 2022 — The cornerstone of therapy is immune globulin replacement, which has dramatically altered the clinical course of CVID by reducing the burden of ... [4] Jun 8, 2022 — The mainstay of treatment for common variable immunodeficiency (CVID) is Ig replacement therapy. Although expensive, Ig replacement therapy ... [5] by C Cunningham-Rundles · 2010 · Cited by 384 — The primary treatment of CVID is replacement of antibody, achieved by either an intravenous or subcutaneous route of Ig, usually in doses of 400 to 600 mg/kg ... [7] Treatment for CVID involves immunoglobulin replacement, preventative antibiotics, and if indicated management of autoimmune and granulomatous disease. Keep pace ... [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. Treatments may include immunoglobulin and antibiotic ...

Common Variable Immunodeficiency (CVID) Differential Diagnosis

CVID, also known as Common Variable Immunodeficiency, is a primary immune deficiency disorder characterized by impaired B-cell differentiation and function, leading to low levels of immunoglobulins. When considering the differential diagnosis for CVID, several conditions should be taken into account.

• X-Linked (Bruton) Agammaglobulinemia: This is a genetic disorder that affects males, causing severe deficiency in all classes of immunoglobulins [1].
• Omenn Syndrome: A rare and severe form of combined immunodeficiency characterized by impaired B-cell differentiation and function, leading to low levels of immunoglobulins [2].
• Pediatric Severe Combined Immunodeficiency (SCID): A group of disorders that affect the immune system, causing severe deficiency in both T-cells and B-cells [3].

These conditions should be considered in the differential diagnosis for CVID, especially when patients present with recurrent infections and alopecia. It's essential to note that CVID is a distinct diagnosis, but some may confuse it with other antibody deficiencies.

Key Points:

• CVID is characterized by impaired B-cell differentiation and function.
• X-Linked (Bruton) Agammaglobulinemia, Omenn Syndrome, and Pediatric SCID should be considered in the differential diagnosis for CVID.
• Patients with CVID may present with recurrent infections and alopecia.

References:

[1] Jun 8, 2022 - Differential Diagnoses · X-Linked (Bruton) Agammaglobulinemia [3] by JS Tam · 2013 · Cited by 103 — Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by recurrent bacterial infections and impaired B-cell differentiation leading ... [9] Jun 8, 2022 — Any time a person presents with recurrent infections and alopecia, CVID should be considered in the differential diagnosis. In one case ...