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Disease Ontology Browser
CD40 deficiency (DOID:0060023)
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Synonyms: hyper-IgM syndrome due to CD40 deficiency; immunodeficiency with hyper-IgM type 3; type 3 hyper-IgM immunodeficiency
Alt IDs: OMIM:606843, ORDO:101090
Definition: A combined T cell and B cell immunodeficiency that has material basis in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory