OBO ID: DOID:0111945
Term Name: immunodeficiency 31A Search Ontology:
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 STAT1 on chromosome 2q32.2. (2)
References:
Ontology: Human Disease   (DOID:0111945)
OTHER immunodeficiency 31A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
STAT1 Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None