agammaglobulinemia 3—autosomal recessive

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agammaglobulinemia 3—autosomal recessive2016-11-24T14:43:22+00:00

agammaglobulinemia 3—autosomal recessive 

HAEMATOLOGY, IMMUNOLOGY

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

References http://www.uniprot.org/uniprot/P11912

http://www.omim.org/entry/613501

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