immunodeficiency, common variable, type 4
immunodeficiency, common variable, type 4
A 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.Molecular pathology
Caused by defects of TNFRSF13C, which encodes a specific receptor for B-cell-activating factor (BAFF) that enhances B-cell survival.