Immunodeficiency 56
Disease ID: disease_node_13313
Connections displayed (default: 10).
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| Dbxref | MIM:615207, ORDO:357329, UMLS_CUI:C3554687 |
|---|---|
| Subclassof | DOID_628, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IL21R immunodeficiency, IMD56, combined immunodeficiency due to IL21R deficiency |
| Doid Label | immunodeficiency 56 |
| Doid Description | A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13313 |
| Doid Id | DOID_0111982 |
| Label | Immunodeficiency 56 |
- Outgoing r'ship
SUBCLASS_OFto/from Combined T Cell And B Cell Immunodeficiency(ID:disease_node_13297) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)