Mendelian susceptibility to mycobacterial disease (MSMD); familial disseminated atypical mycobacterial infection

Epidemiology

rare

Pathology

• confers predisposition to illness caused by
  • moderately virulent mycobacterial species
    • Bacillus calmette-Guerin (BCG) vaccine
    • environmental non-tuberculous mycobacteria
  • more virulent Mycobacterium tuberculosis
• other microorganisms rarely cause severe clinical disease
• exception of Salmonella which infects less than 50%
• pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity;

Genetics

• genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance
• associated with mutations in
  • IFNGR1 (CDw119), IFNGR2
  • IL12RB1
  • STAT1 gene

Clinical manifestations

• some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood
• others develop disseminated, but curable infections, with tuberculoid granulomas later in life

More general terms

• genetic disease of the immune system

Additional terms

• CDw119; interferon-gamma receptor alpha chain; IFN-gamma-R1; CD119 (IFNGR1)
• interleukin-12 subunit beta; IL-12B; cytotoxic lymphocyte maturation factor 40 kD subunit; CLMF p40; IL-12 subunit p40; NK cell stimulatory factor chain 2; NKSF2 (IL12B NKSF2)

Database

• OMIM: https://mirror.omim.org/entry/209950