immunodeficiency 31A
Information
- Disease name
- immunodeficiency 31A
- Disease ID
- DOID:0111945
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/11452125/, url:https\://pubmed.ncbi.nlm.nih.gov/19084105/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:612
- Cross Reference ID (Disease Ontology)
- MIM:614892
- Cross Reference ID (Disease Ontology)
- ORDO:319595
- Exact Synonym (Disease Ontology)
- autosomal dominant immunodeficiency 31A, mycobacteriosis
- Exact Synonym (Disease Ontology)
- IMD31A
- Exact Synonym (Disease Ontology)
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
- Exact Synonym (Disease Ontology)
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
- Exact Synonym (Disease Ontology)
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- Exact Synonym (Disease Ontology)
- MSMD due to partial STAT1 deficiency