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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: hyper-IgM syndrome due to CD40 deficiency, immunodeficiency with hyper-IgM type 3, type 3 hyper-IgM immunodeficiency , CD40 deficiency, HIGM3, type 3 hyper-IgM immunodeficiency
Echinobase Genes
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| 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)