immunodeficiency with hyper IgM type 3 (DOID:0060023)
Alliance: disease page
Synonyms: CD40 deficiency; HIGM3; hyper-IgM syndrome due to CD40 deficiency; type 3 hyper-IgM immunodeficiency
Alt IDs: OMIM:606843, NCI:C176416, ORDO:101090, UMLS_CUI:C1720957
Definition: A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is 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.