Immunodeficiency 31B
Disease ID: disease_node_20448
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| Dbxref | MIM:613796, ORDO:391311 |
|---|---|
| Subclassof | DOID_0050737, DOID_612 |
| Data Source | DOID |
| Synonyms | IMD31B, autosomal recessive STAT1 deficiency, autosomal recessive immunodeficiency 31B, mycobacterial and viral infections, predisposition to severe viral infection due to STAT1 deficiency, susceptibility to viral and mycobacterial infections due to STAT1 deficiency |
| Doid Label | immunodeficiency 31B |
| Doid Description | A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20448 |
| Doid Id | DOID_0111944 |
| Label | Immunodeficiency 31B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease)