agammaglobulinemia 1—autosomal recessive

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agammaglobulinemia 1—autosomal recessive2016-11-24T14:34:15+00:00

agammaglobulinemia 1—autosomal recessive

IMMUNOLOGY

Definition A primary immunodeficiency (OMIM:601495) characterised by very low to absent serum antibodies and low to absent circulating B cells due to an early block of B-cell development, resulting in severe infections in early life.

Molecular pathology Defects of IGHM, which encodes the C–constant region of an immunoglobulin M–IgM mu heavy chain that defines the IgM isotype, cause agammaglobulinemia type 1—autosomal recessive. 

Synonym Agammaglobulinemia—autosomal recessive—due to IGHM defect 

References http://www.uniprot.org/uniprot/P01871

http://www.omim.org/entry/601495  

 

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