immunodeficiency 31A (DOID:0111945)
Alliance: disease page
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
Alt IDs: OMIM:614892, ORDO:319595
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.