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| Term | immunodeficiency with hyper IgM type 3 | ID (Ontology) | DOID:0060023 (Human Disease) |
| 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. | ||
| Also Known As | "CD40 deficiency" ; "HIGM3" ; "hyper-IgM syndrome due to CD40 deficiency" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ hyperimmunoglobulin syndrome | |__hyper IgM syndrome___________| immunodeficiency with hyper IgM type 3 |
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| Is a |
autosomal recessive disease hyper IgM syndrome |
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External Crossreferences & Linkouts
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GARD:10579 MIM:606843 NCI:C176416 ORDO:101090 UMLS_CUI:C1720957 |
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