Category:CD40 deficiency

A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 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.

equivalent URI:=http://purl.obolibrary.org/obo/DOID_0060023