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Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Disease definition

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

ORPHA:319552

Classification level: Disorder
  • Synonym(s):
    • MSMD due to complete IL12RB1 deficiency
    • MSMD due to complete interleukin 12 receptor beta 1 deficiency
    • Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: D84.8
  • OMIM: 614891
  • UMLS: -
  • MeSH: -
  • GARD: 10984
  • MedDRA: -

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