Term Name: | immunodeficiency 31A |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111945] ( DOID:0111945 ) |