agammaglobulinemia 3—autosomal recessive
A primary autosomal recessive immunodeficiency (OMIM:613501) characterised by profound hypogammaglobulinemia and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections–e.,g., recurrent lower respiratory infections and otitis media in infancy.
Molecular pathology Defects of CD79A, which encodes immunoglobulin-associated alpha, a protein necessary for the expression and function of the B-cell antigen receptor–BCR, cause agammaglobulinemia 3—autosomal recessive.
Synonym Agammaglobulinemia—autosomal recessive—due to CD79A defect