Ottenhoff Tom H M, Verreck Frank A W, Lichtenauer-Kaligis Elgin G R, Hoeve Marieke A, Sanal Ozden, van Dissel Jaap T
Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
Nat Genet. 2002 Sep;32(1):97-105. doi: 10.1038/ng0902-97.
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-Guérin) 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-12R beta 1, interferon-gamma R1, interferon-gamma R2 or STAT1. Ten syndromes have thus far been identified. Recent insights in genetically controlled host defense and susceptibility to mycobacterial disease are discussed.
宿主遗传因素在决定由细胞内病原体（包括分枝杆菌和沙门氏菌）引起的感染结果方面很重要，但迄今为止其特征尚不明确。最近，一些因致病性较弱的分枝杆菌（非结核分枝杆菌或卡介苗）或沙门氏菌而发生严重感染的个体已被证明无法产生或对干扰素-γ作出反应。这种无能是由编码1型细胞因子级联反应必需蛋白的五个基因中的任何一个发生突变所致：白细胞介素-12p40、白细胞介素-12Rβ1、干扰素-γR1、干扰素-γR2或信号转导和转录激活因子1（STAT1）。迄今为止已鉴定出十种综合征。本文讨论了遗传控制的宿主防御以及对分枝杆菌病易感性的最新见解。
