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Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Disease definition

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections.

ORPHA:319563

  • Synonym(s):
    • MSMD due to complete ISG15 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: D84.8
  • OMIM: 616126
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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