OBSOLETE: Common variable immunodeficiency

Common variable immunodeficiency (CVID) is the most frequently diagnosed primary immunodeficiency disorder, characterized by significantly reduced levels of immunoglobulins (antibodies), particularly IgG and often IgA and/or IgM. This leads to impaired ability to fight infections. Note: Orphanet code 1572 is listed as obsolete, as CVID has been reclassified and subdivided into more specific entities within the Orphanet classification system. CVID primarily affects the immune system, but its consequences are widespread throughout the body. Patients with CVID typically experience recurrent bacterial infections, particularly of the respiratory tract (sinusitis, bronchitis, pneumonia) and gastrointestinal tract. Over time, recurrent lung infections can lead to bronchiectasis (permanent airway damage). Many patients also develop autoimmune complications, including autoimmune cytopenias (such as immune thrombocytopenia and autoimmune hemolytic anemia), granulomatous disease affecting the lungs, liver, or spleen, lymphoid hyperplasia, splenomegaly, and an increased risk of lymphoma and other malignancies. Gastrointestinal manifestations, including chronic diarrhea and malabsorption, are also common. The age of onset is variable but most commonly presents in the second or third decade of life, though it can occur in childhood. Most cases are sporadic, though approximately 10-25% of cases have a family history of immunodeficiency, with some identified genetic causes following autosomal dominant or autosomal recessive inheritance patterns. Genes implicated include TNFRSF13B (TACI), TNFRSF13C (BAFF-R), ICOS, CD19, MS4A1 (CD20), CR2 (CD21), LRBA, CTLA4, NFKB1, NFKB2, and PIK3CD, among others. The mainstay of treatment is lifelong immunoglobulin replacement therapy (intravenous or subcutaneous), which significantly reduces the frequency and severity of infections. Prophylactic antibiotics may also be used, and immunosuppressive therapies may be needed for autoimmune or granulomatous complications.

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