Search Ontology:
Human Disease

immunodeficiency 31A

Term ID
DOID:0111945
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. (2)
References
Ontology
Human Disease   ( DOID:0111945 )
Relationships
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Genes Involved
Zebrafish Models