Immunodeficiency 58
Disease ID: disease_node_13312
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| Dbxref | MIM:618131, ORDO:542301, UMLS_CUI:C4748304 |
|---|---|
| Subclassof | DOID_628, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IMD58, severe combined immunodeficiency due to CARMIL2 deficiency |
| Doid Label | immunodeficiency 58 |
| Doid Description | A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13312 |
| Doid Id | DOID_0111984 |
| Label | Immunodeficiency 58 |
- 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)