Details of Disease

General Information of Disease (ID: DISNY5AW)

• Disease Name: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
• Synonyms: immunodeficiency type 27B; IFNGR1 deficiency, autosomal dominant; IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency; immunodeficiency 27B; autosomal dominant MSMD due to partial IFNgammaR1 deficiency; autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1; autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency; immunodeficiency 27B, Mycobacteriosis, autosomal dominant; immunodeficiency 27B, mycobacteriosis, AD; IMD27B; autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
• Definition: A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
• Disease Hierarchy:
  DIS33M7J: Inherited susceptibility to mycobacterial diseases
  DISNY5AW: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0014429
  UMLS CUI: C4014863
  OMIM ID: 615978
  MedGen ID: 863300
  Orphanet ID: 319581

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IFNGR1	OTCTQBWW	Strong	Autosomal dominant	[1]

References

• [1] A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nat Genet. 1999 Apr;21(4):370-8. doi: 10.1038/7701.