CD268/BAFFR/TNFRSF13C [BAFFR/1557]

Defects in CD268 are the cause of immunodeficiency common variable type 4 (CVID4); also called antibody deficiency due to BAFFR defect. CVID4 is a primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B cells is usually in the normal range, but can be low.