common variable immunodeficiency 4

Common Variable Immunodeficiency (CVID) Description

Common variable immunodeficiency (CVID) is a group of genetic diseases where your immune cells don’t make antibodies. Without antibodies, people with CVID get frequent infections. It can also cause gastrointestinal issues and put you at risk for cancer, lung conditions, and autoimmune diseases. It’s manageable with immunoglobulin replacement therapy.

Symptoms and Risks

• Recurring sinus and lung infections, particularly pneumonia
• Chronic cough, coughing up blood, or difficulty breathing
• Bronchiectasis (widened airways) making it hard to clear mucus and breathe
• Increased risk for cancer, lung conditions, and autoimmune diseases

Causes and Characteristics

• Low levels of specific proteins (immunoglobulins) in the fluid portion of the blood
• Loss of antibodies leading to reduced antibody responses
• Frequent infections due to reduced immune system function

Note: The above information is based on search results [3], [4], [5], and [9].

Common Variable Immunodeficiency (CVID) Signs and Symptoms

Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder characterized by low levels of specific proteins (immunoglobulins) in the fluid portion of the blood. This results in a loss of antibodies, leading to recurrent infections and other complications.

Frequent Infections The most common sign of CVID is frequent infections, particularly: * Sinusitis * Pneumonia * Bronchitis * Ear infections * Shingles

These infections can be severe and may require hospitalization. Other symptoms of CVID can include:

• Gastrointestinal problems: Chronic diarrhea, weight loss, nausea, vomiting, and abdominal pain.
• Liver function impairment: Reduced liver function and impaired blood flow to the liver.
• Respiratory system issues: Recurrent sinopulmonary infections causing sinus congestion and pressure, cough, shortness of breath.

Other Complications In some forms of CVID, patients may experience: * Diarrhea * Weight loss * Nausea * Vomiting * Abdominal pain

These symptoms can be present in addition to the frequent infections. It's essential to seek medical attention if you suspect you or a loved one has CVID.

References:

• [4] Common variable immune deficiency (CVID), previously known as adult-onset hypogammaglobulinemia, is one of the most frequently diagnosed primary immunodeficiencies.
• [6] Symptoms and Signs of CVID ... Patients with CVID have recurrent sinopulmonary infections that cause sinus congestion and pressure, cough, shortness of breath, ...
• [7] CVID is characterized by low levels of specific proteins (immunoglobulins) in the fluid portion of the blood. This results in a loss of antibodies and a ...

Diagnostic Tests for Common Variable Immunodeficiency (CVID)

Common variable immunodeficiency (CVID) is a genetic disease where the immune cells don't produce antibodies, making it difficult to fight off infections. To diagnose CVID, healthcare providers use various diagnostic tests.

• Blood Tests: Blood tests are used to measure the levels of IgG, IgA, and IgM antibodies in the blood. A low level of these antibodies can indicate CVID.
• Genetic Testing: Genetic testing may be ordered to look for genetic mutations that can cause CVID.
• Serum Quantitative Immunoglobulins: This test measures the levels of immunoglobulins (antibodies) in the serum.
• Antibody Titers: This test measures the level of antibodies produced in response to vaccines.
• B-Cell Subset Analysis by Flow Cytometry: This test analyzes the B-cells, which are a type of immune cell that produces antibodies.

These tests can help healthcare providers diagnose CVID and rule out other potential causes of immunodeficiency. Early diagnosis is crucial to prevent complications and improve outcomes.

References:

• [4] May 10, 2023 — Laboratory Testing
• [5] May 10, 2023 — Laboratory Testing
• [7] Jun 8, 2022 — Common variable immunodeficiency (CVID) is diagnosed based on decreased serum IgA and IgG levels and, occasionally, decreased serum IgM levels.
• [9] CVID diagnosis is typically confirmed by testing for low blood IgG immunoglobulin levels (<100 mg/dL).

Treatment for Common Variable Immunodeficiency (CVID)

The mainstay of treatment for CVID is Ig replacement therapy, which involves replacing the missing antibodies in the body to help fight off infections [4]. This type of therapy can be administered intravenously or subcutaneously, and the dosage typically ranges from 400 to 600 mg/kg [5].

In addition to Ig replacement therapy, preventative antibiotics are often prescribed to help prevent infections [3][6]. The goal of treatment is to keep the individual as healthy as possible by reducing the frequency and severity of infections [6].

It's worth noting that while Ig replacement therapy can be effective in managing CVID, it is not a cure for the condition. Individuals with CVID will need to continue receiving this type of treatment for the rest of their lives [3].

Common Variable Immunodeficiency (CVID) Differential Diagnosis

CVID, a primary immune deficiency disease, can be challenging to diagnose due to its heterogeneous nature and overlapping symptoms with other conditions. A differential diagnosis is essential to rule out other possible causes of recurrent infections and low antibody levels.

Conditions to Consider in the Differential Diagnosis:

• Monoclonal Gammopathy of Undetermined Significance (MGUS): This condition involves the presence of a monoclonal protein, which can be mistaken for CVID. However, MGUS typically does not involve recurrent infections or impaired B-cell differentiation [4].
• Waldenström Macroglobulinemia: This rare blood cancer can also present with low antibody levels and recurrent infections, but it is characterized by the presence of a monoclonal protein and lymphadenopathy [4].
• Chronic Lymphocytic Leukemia (CLL): CLL can cause impaired B-cell function and low antibody levels, but it typically involves lymphadenopathy and splenomegaly [4].

Key Diagnostic Features to Distinguish CVID from Other Conditions:

• Recurrent Sinopulmonary Infections: CVID is characterized by recurrent infections of the upper airway, sinuses, and lungs, which can be a distinguishing feature from other conditions.
• Impaired B-Cell Differentiation: CVID involves impaired B-cell differentiation leading to low antibody levels, which can help distinguish it from other conditions.

Diagnostic Tests to Rule Out Differential Diagnoses:

• Monoclonal Protein Levels: Measuring monoclonal protein levels can help rule out MGUS and Waldenström Macroglobulinemia.
• Flow Cytometry: Flow cytometry can help diagnose CLL and other lymphoproliferative disorders.

Conclusion:

A thorough differential diagnosis is essential to accurately diagnose CVID. By considering the key diagnostic features and using appropriate diagnostic tests, healthcare providers can rule out other conditions and provide an accurate diagnosis of CVID.