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Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Disease definition

Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, 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:319569

  • Synonym(s):
    • Autosomal recessive MSMD due to partial IFNgammaR1 deficiency
    • Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
    • Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: D84.8
  • OMIM: 209950
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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