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Mendelian susceptibility to mycobacterial diseases

Disease definition

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.

ORPHA:748

  • Synonym(s):
    • Idiopathic infection caused by BCG or atypical mycobacteria
    • MSMD
    • Mendelian susceptibility to atypical mycobacteria
    • Mendelian susceptibility to mycobacterial infections
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: All ages
  • ICD-10: D84.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 12977
  • MedDRA: -

Detailed information

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