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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 :
MIM:606843 - immunodeficiency with hyper-igm, type 3; higm3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee