About   Help   FAQ
Disease Ontology Browser
CD40 deficiency (DOID:0060023)
Alliance: disease page
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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.12
The Jackson Laboratory