immunodeficiency, common variable, type 4(redirected from CVID4)
immunodeficiency, common variable, type 4A primary immunodeficiency (OMIM:613494) characterised by antibody deficiency, hypogammaglobulinaemia, recurrent bacterial infections and an inability to mount an antibody response to antigens, due to a failure of B-cell differentiation and impaired secretion of immunoglobulins. The number of circulating B-cells is in the low normal range.
Caused by defects of TNFRSF13C, which encodes a specific receptor for B-cell-activating factor (BAFF) that enhances B-cell survival.
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