Details of Disease

General Information of Disease (ID: DIS0E3QL)

• Disease Name: Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
• Synonyms: autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency; autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency; IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency; autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2; autosomal recessive MSMD due to partial IFNgammaR2 deficiency
• Definition: A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
• Disease Hierarchy:
  DISIYKJL: Hereditary predisposition to infections
  DIS0E3QL: Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0017902
  UMLS CUI: C4511098
  MedGen ID: 1387677
  Orphanet ID: 319574
  SNOMED CT ID: 725432008

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.