common variable immunodeficiency 8

Common Variable Immunodeficiency (CVID): A Description

Common Variable Immunodeficiency (CVID) is one of the most common primary immunodeficiency (PID) disorders, also known as inborn errors of immunity (IEI), which affects the immune system's ability to fight off infections.

• Characterized by low antibody levels: CVID is characterized by very low levels of specific proteins (immunoglobulins) in the fluid portion of the blood, resulting in a loss of antibodies and a heightened susceptibility to infection [8].
• Genetic disorders affecting the immune system: It is a group of genetic disorders that affect the immune system, causing an increased risk of infections due to low levels of protective antibodies [3].
• Increased susceptibility to infection: People with CVID have low levels of serum antibodies, which cause an increased susceptibility to infection [2].

Overall, CVID is a relatively frequent form of primary immunodeficiency disorder that affects the immune system's ability to fight off infections, making individuals highly susceptible to illness.

Common Variable Immunodeficiency (CVID) Signs and Symptoms

People with CVID experience frequent and often severe infections, primarily affecting the respiratory system, ears, and sinuses [8]. The most common signs and symptoms of CVID include:

• Frequent infections, such as pneumonia, sinusitis, bronchitis, ear infections, and shingles
• Recurrent sinopulmonary infections causing sinus congestion and pressure, cough, shortness of breath
• Gastrointestinal problems including chronic diarrhea, weight loss, nausea, vomiting, and abdominal pain
• Low levels of specific proteins (immunoglobulins) in the fluid portion of the blood, resulting in a loss of antibodies

These symptoms can vary from person to person and may be similar to those experienced by people with other conditions. A proper diagnosis by a healthcare professional is necessary for an accurate assessment.

References:

• [8] Signs and Symptoms​​ People with CVID experience frequent and often severe infections, primarily affecting the respiratory system, ears, and sinuses.
• [1] The most common sign of CVID is frequent infections — most commonly, sinusitis, pneumonia, bronchitis, ear infections and shingles.
• [6] Patients with CVID have recurrent sinopulmonary infections that cause sinus congestion and pressure, cough, shortness of breath, ...
• [5] Gastrointestinal problems including chronic diarrhea, weight loss, nausea, vomiting and abdominal pain can also be present. In some forms of CVID, patients ...

Diagnostic Tests for Common Variable Immunodeficiency (CVID)

Common variable immunodeficiency (CVID) can be diagnosed through various laboratory tests that measure the levels of specific proteins and antibodies in the blood. Here are some of the diagnostic tests used to confirm CVID:

• Blood Test Screenings: A routine blood test screening, also known as a complete blood count (CBC), is often performed to rule out other conditions. This test measures the levels of different cells and proteins in the blood, including immunoglobulins [4].
• Immunoglobulin Levels: Measuring serum levels of antibodies that are specific to certain infections can help determine if there is a lack of functional antibody formation, which is characteristic of CVID [3].
• B-Cell Subset Analysis by Flow Cytometry: This test measures the number and function of B-cells in the blood, which can be abnormal in people with CVID [2].
• Genetic Testing: Genetic testing may also be performed to identify genetic mutations that can cause CVID.
• Liver Function Tests: Liver function tests are often performed to rule out liver disease, which can mimic the symptoms of CVID [4].
• Kidney Function Tests: Kidney function tests are also performed to rule out kidney disease, which can affect immunoglobulin levels and antibody production [4].

It's worth noting that a diagnosis of CVID is usually confirmed by abnormal blood test results and medical history [9].

Treatment for Common Variable Immunodeficiency (CVID)

The treatment for CVID focuses on decreasing the frequency and severity of infections, as well as managing autoimmune and granulomatous diseases. The mainstay of treatment is immunoglobulin replacement therapy, which involves administering antibodies to help boost the immune system.

• Immunoglobulin replacement: This is typically done through intravenous or subcutaneous injections, with doses ranging from 400 to 600 mg/kg every 1-4 weeks [5].
• Preventative antibiotics: These are used to prevent infections and reduce the risk of complications.
• Management of autoimmune and granulomatous disease: This may involve additional treatments, such as corticosteroids or other immunosuppressive medications.

It's essential to note that treatment for CVID is ongoing and requires regular administration of immunoglobulin replacement therapy. Antibiotics are also promptly given to prevent infections [9].

References:

• [8] Treatment for CVID involves immunoglobulin replacement, preventative antibiotics, and if indicated management of autoimmune and granulomatous disease.
• [5] 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 ...
• [9] 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 ...

Common Variable Immunodeficiency (CVID) Differential Diagnosis

Common variable immunodeficiency (CVID) is a type of primary immunodeficiency characterized by reduced serum levels of immunoglobulins, leading to recurrent infections and impaired immune function. When diagnosing CVID, it's essential to consider other potential causes of hypogammaglobulinemia, which can lead to similar symptoms.

Other Causes of Hypogammaglobulinemia:

• Loss of gammaglobulins via the intestine or urine: This can occur due to various conditions, such as gastrointestinal disorders (e.g., celiac disease) or kidney problems.
• Malnutrition and starvation: Prolonged periods of malnutrition or starvation can lead to decreased immunoglobulin levels.
• Chronic diseases: Certain chronic diseases, like HIV/AIDS, can cause hypogammaglobulinemia.

Differential Diagnosis Considerations:

When considering a differential diagnosis for CVID, it's crucial to rule out other conditions that may present with similar symptoms. These include:

• X-linked agammaglobulinemia
• Omenn syndrome
• Pediatric severe combined immunodeficiency
• Protein-losing enteropathy

Key Points:

• CVID is a primary immunodeficiency characterized by reduced serum levels of immunoglobulins.
• Other causes of hypogammaglobulinemia, such as loss via the intestine or urine, malnutrition, and chronic diseases, should be considered in the differential diagnosis.
• A thorough medical history, physical examination, and laboratory tests are essential for accurate diagnosis.

References:

[8] Common variable immune deficiency (CVID) is a type of primary immunodeficiency, which is defined as an immune system dysfunction typically caused by a variant [8]. [10] Differential diagnosis include other causes of hypogammaglobulinemia including loss of gammaglobulins via the intestine or urine [10].