Immunodeficiency With Hyper Igm Type 3
Disease ID: disease_node_17344
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| Dbxref | GARD:10579, MIM:606843, NCI:C176416, ORDO:101090, UMLS_CUI:C1720957 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080544 |
| Data Source | DOID |
| Synonyms | CD40 deficiency, HIGM3, hyper-IgM syndrome due to CD40 deficiency, type 3 hyper-IgM immunodeficiency |
| Doid Label | immunodeficiency with hyper IgM type 3 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17344 |
| Doid Id | DOID_0060023 |
| Label | Immunodeficiency With Hyper Igm Type 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Hyper-Igm Immunodeficiency Syndrome(ID:disease_node_11677) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)