| Metadata | |
|---|---|
| ID | DOID:0111945 |
| Name | immunodeficiency 31A |
| Definition | A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. https://pubmed.ncbi.nlm.nih.gov/11452125/, https://pubmed.ncbi.nlm.nih.gov/19084105/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant immunodeficiency 31A, mycobacteriosis [EXACT] IMD31A [EXACT] Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency [EXACT] Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency [EXACT] MSMD due to partial signal transducer and activator of transcription 1 deficiency [EXACT] MSMD due to partial STAT1 deficiency [EXACT] |
| Parent Relationships |