Defects in TNFRSF13C are the cause of immunodeficiency common variable type 4 (CVID4) [MIM:613494], 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.
Immunohistochemistry (Formalin-fixed) (1-2ug/ml for 30 minutes at RT)(Staining of formalin-fixed tissues requires heating tissue sections in 10mM Tris with 1mM EDTA, pH 9.0, for 45 min at 95&degC followed by cooling at RT for 20 minutes)
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