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References OMIM Gene GeneReviews HGMD HGNC
last update : 05-09-2017
Symbol IL12RB1D
Location 19p13.11
Name interleukin 12 receptor, beta 1 deficiency
Other name(s)
  • susceptibility to BCG, non tuberculous mycobacterial and salmonella infections
  • Mendelian susceptibility to mycobacterial diseases
  • hemopoietin receptor superfamily
  • Corresponding gene IL12RB1
    Other symbol(s) MSMD, IMD30
    Main clinical features
  • the presence of mature granulomas and a secundary impairment of IFNG production
  • the most common form of susceptibility to mycobacterial disease
  • Bacillus Calmette-Guerin (BCG) disease and salmonellosis are the most frequent infections; Salmonellosis is present in about half of IL12RB1-deficient patients, and significant numbers of patients present with isolated salmonellosis
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name interleukin 12 receptor subunit B1 (IL12RB1)