Term Name: immunodeficiency 31A
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 )

Relationships
is a type of: autosomal dominant disease primary immunodeficiency disease