Term Name: | immunodeficiency with hyper IgM type 3 |
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Synonyms: | CD40 deficiency, HIGM3, hyper-IgM syndrome due to CD40 deficiency, type 3 hyper-IgM immunodeficiency |
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. |
Ontology: | Human Disease [DOID:0060023] ( DOID:0060023 ) |