![]() Other monogenic defects reported include MSH5, CD81 and CD20 deficiencies. EtiologyĬVID can be due to an intrinsic B cell defect (for example CD19-deficiency caused by mutations in CD19 16p11.2), an intrinsic T cell defect (for example ICOS-deficiency caused by mutations in ICOS 2q33), mutations in TNF receptors (such as TACI-deficiency or BAFFR-deficiency caused by mutations in TNFRSF13B and TNFRSF13C respectively 17p11.2 and 22q13.1-q13.31) or without a known genetic defect. There is considerable variation in the clinical presentation in patients with a similar genotype. ![]() Patients with TACI-deficiency are more likely to be affected by lymphoproliferation and autoimmunity. Up to 57% of patients develop bronchiectasis. Lymphoproliferative disorders such as generalized lymphadenopathy and/or splenomegaly are present in up to 40% of patients, and there is an increased risk of developing gastrointestinal and lymphoid malignancies, especially non-Hodgkin's lymphoma (see this term). About 25% of patients develop autoimmune phenomena immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) are the most common (see these terms). Over 98% of patients present with recurrent bronchitis, sinusitis, otitis and pneumonia, and chronic pulmonary damage is the major complication. While some patients are diagnosed with CVID in early childhood, the major peak of onset lies between the second and third decade of life, frequently with several years delay between onset and diagnosis. Prevalence is estimated at 1/25,000 among Caucasians and CVID affects men and women equally.
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