immunodeficiency, common variable, type 2

(redirected from CVID2)

immunodeficiency, common variable, type 2

A primary immunodeficiency (OMIM:240500) 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 in TNFRSF13B, which encodes a lymphocyte-specific TNF receptor that plays a key role in humoral immunity.