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Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Disease definition

A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).

ORPHA:319543

Classification level: Group of disorders
  • Synonym(s):
    • Autosomal dominant MSMD due to a partial deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: D84.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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