Details of Disease

General Information of Disease (ID: DISPHDQ6)

• Disease Name: Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
• Synonyms: IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency; MSMD due to complete IFNgammaR2 deficiency; autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2; Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency; MSMD due to complete interferon gamma receptor 2 deficiency
• Definition: Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM).
• Disease Hierarchy:
  DIS33M7J: Inherited susceptibility to mycobacterial diseases
  DISPHDQ6: Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0017900
  UMLS CUI: C4303071
  MedGen ID: 928740
  Orphanet ID: 319547
  SNOMED CT ID: 721876004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IFNGR2	TT13TL0	Supportive	Autosomal recessive	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IFNGR2	OTVOPCHW	Supportive	Autosomal recessive	[1]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.