immunodeficiency with hyper-IgM type 3

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immunodeficiency with hyper-IgM type 32016-12-25T07:02:24+00:00

immunodeficiency with hyper-IgM type 3

IMMUNOLOGY

Definition An immunodeficiency (OMIM:606843) characterised by an inability of B cells to undergo isotype switching–a final differentiation step in the humoral immune system, an inability to mount an antibody-specific immune response, and a lack of germinal centres, resulting in increased susceptibility to bacterial and opportunistic infections–e.g., respiratory distress, hepatomegaly, failure to thrive, and a history of severe RSV–respiratory syncytial virus infection

Molecular pathology Defects of CD40, which encodes a transmembrane glycoprotein of the TNF receptor superfamily that interacts with the CD40 ligand, cause immunodeficiency with hyper-IgM type 3. 

References http://www.uniprot.org/uniprot/P25942
http://www.omim.org/entry/606843

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