immunodeficiency with hyper IgM type 3

Summary

DOID:0060023 - immunodeficiency with hyper IgM type 3

Disease Ontology 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.

Synonyms: CD40 deficiency, HIGM3, hyper-IgM syndrome due to CD40 deficiency, immunodeficiency with hyper-IgM type 3, type 3 hyper-IgM immunodeficiency, type 3 hyper-IgM immunodeficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cd40

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011735 - hyper-IgM syndrome type 3

MONDO:0011735 - hyper-IgM syndrome type 3

MIM:

MIM:606843 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3

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

Parent(s): autosomal recessive disease (is_a), combined T cell and B cell immunodeficiency (is_a), hyper IgM syndrome (is_a)