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Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Disease definition

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

ORPHA:319558

  • Synonym(s):
    • MSMD due to complete IL12B deficiency
    • MSMD due to complete interleukin 12B deficiency
    • Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D84.8
  • OMIM: 614890
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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