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Echinobase
Summary Literature (0)
DOID:0060023 - CD40 deficiency

Disease Ontology 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.

Synonyms: hyper-IgM syndrome due to CD40 deficiency, immunodeficiency with hyper-IgM type 3, type 3 hyper-IgM immunodeficiency ,

Echinobase Genes :


OMIM:
MIM:606843 - immunodeficiency with hyper-igm, type 3; higm3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): combined T cell and B cell immunodeficiency (is_a)