immunodeficiency—common variable type 3

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immunodeficiency—common variable type 32016-12-25T07:29:54+00:00

immunodeficiency—common variable type 3

IMMUNOLOGY

Definition A primary immunodeficiency (OMIM:613493) characterised by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigens.  

Molecular pathology Defects of CD19, which encodes a protein that assembles with the antigen receptor of B-cells to reduce the threshold for antigen receptor-dependent stimulation, cause immunodeficiency—common variable type 3.

Reference http://www.uniprot.org/uniprot/P15391

http://www.omim.org/entry/613493

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