Orphanet: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Disease definition

Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) 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-Guérin (BCG) and other environmental mycobacteria (EM).

ORPHA:319574

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive MSMD due to partial IFNgammaR2 deficiency
    • 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
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: D84.8
  • OMIM: 614889
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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