Immunodeficiency 11A
Disease ID: disease_node_13319
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| Dbxref | MIM:615206, ORDO:357237, UMLS_CUI:C3554686 |
|---|---|
| Subclassof | DOID_0050737, DOID_627 |
| Data Source | DOID |
| Synonyms | CARD11 deficiency, IMD11A, SCID due to CARD11 deficiency, severe combined immunodeficiency due to CARD11 deficiency |
| Doid Label | immunodeficiency 11A |
| Doid Description | A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13319 |
| Doid Id | DOID_0111957 |
| Label | Immunodeficiency 11A |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)