Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellae


Ottenhoff T., Verreck F., Lichtenauer-Kaligis E., Hoeve M., Sanal O., van Dissel J.

NATURE GENETICS, cilt.32, ss.97-105, 2002 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 32 Konu: 1
  • Basım Tarihi: 2002
  • Doi Numarası: 10.1038/ng0902-97
  • Dergi Adı: NATURE GENETICS
  • Sayfa Sayıları: ss.97-105

Özet

Host genetic factors are important in determining the outcome of infections caused by intracellular pathogens, including mycobacteria and salmonellae, but until now have been poorly characterized. Recently, some individuals with severe infections due to otherwise weakly pathogenic mycobacteria (non-tuberculous mycobacteria or Mycobacterium bovis bacille Calmette-Guerin) or Salmonella species have been shown to be unable to produce or respond to interferon-gamma. This inability results from mutations in any of five genes encoding essential proteins of the type 1 cytokine cascade: interleukin-12p40, interleukin-12Rbeta1, interferon-gammaR1, interferon-gammaR2 or STAT1. Ten syndromes have thus far been identified. Recent insights in genetically controlled host defense and susceptibility to mycobacterial disease are discussed.