Interferon-γ and interleukin-12 pathway defects and human disease

被引:259
作者
Dorman, SE [1 ]
Holland, SM [1 ]
机构
[1] NIAID, Host Def Lab, NIH, Bethesda, MD 20892 USA
关键词
interferon-gamma; interferon-gamma receptor deficiency; interleukin-12; tuberculosis; mycobacteria;
D O I
10.1016/S1359-6101(00)00010-1
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
A genetic component to human mycobacterial disease susceptibility has long been postulated. Over the past five years, mutations in the interferon-gamma (IFN gamma) receptor, IL-12 receptor beta 1 (IL-12R beta 1), 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 IFN gamma receptor, IL-12R beta 1, 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. Published by Elsevier Science Ltd.
引用
收藏
页码:321 / 333
页数:13
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