Search Ontology:
Human Disease
immunodeficiency 31A
- Term ID
- DOID:0111945
- Synonyms
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- autosomal dominant immunodeficiency 31A, mycobacteriosis
- IMD31A
- Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
- MSMD due to partial signal transducer and activator of transcription 1 deficiency
- MSMD due to partial STAT1 deficiency
- 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. (2)
- References
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- MIM:614892
- ORDO:319595
- Ontology
- Human Disease ( DOID:0111945 )
- is a type of
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Genes Involved
Zebrafish Models