Dorman S E, Holland S M
Laboratory of Host Defenses, National Institutes of Health, NIAID, Building 10, Room 11N103, 10 Center Dr, MSC 1886, Bethesda, MD 20892, USA.
Cytokine Growth Factor Rev. 2000 Dec;11(4):321-33. doi: 10.1016/s1359-6101(00)00010-1.
A genetic component to human mycobacterial disease susceptibility has long been postulated. Over the past five years, mutations in the interferon-gamma (IFNgamma) receptor, IL-12 receptor beta1 (IL-12Rbeta1), and IL-12 p40 genes have been recognized. These mutations are associated with heightened susceptibility to disease caused by intracellular pathogens including nontuberculous mycobacteria, vaccine-associated bacille Calmette Guerin (BCG), Salmonella species, and some viruses. We describe the genotype-phenotype correlations in IFNgamma receptor, IL-12Rbeta1, and IL-12 p40 deficiency, and discuss how study of these diseases has enhanced knowledge of human host defense against mycobacteria and other intracellular pathogens.
长期以来，人们一直假定人类对分枝杆菌病易感性存在遗传因素。在过去五年中，已确认干扰素-γ（IFNγ）受体、白细胞介素-12受体β1（IL-12Rβ1）和白细胞介素-12 p40基因存在突变。这些突变与对包括非结核分枝杆菌、疫苗相关卡介苗（BCG）、沙门氏菌属和某些病毒在内的细胞内病原体引起的疾病易感性增加有关。我们描述了IFNγ受体、IL-12Rβ1和IL-12 p40缺乏症的基因型与表型的相关性，并讨论了对这些疾病的研究如何增进了对人类宿主抗分枝杆菌和其他细胞内病原体防御机制的认识。
