白细胞介素-12/γ干扰素轴的先天性缺陷与对分枝杆菌和沙门氏菌感染的易感性
Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella.
作者信息
Ramirez-Alejo Noé, Santos-Argumedo Leopoldo
机构信息
Department of Molecular Biomedicine, CINVESTAV-IPN , Mexico City, Mexico .
出版信息
J Interferon Cytokine Res. 2014 May;34(5):307-17. doi: 10.1089/jir.2013.0050. Epub 2013 Dec 20.
Abstract
Since 1996, several studies characterizing the association between primary immunodeficiencies and susceptibility to infections with environmental and non-pathogenic mycobacteria such as the Bacillus Calmette-Guérin (Mycobacterium bovis Bacillus of Calmette Guérin strain) as well as disseminated infections by Salmonella spp. have been conducted. These conditions, grouped in the so-called Mendelian susceptibility to mycobacterial diseases, include a primary immunodeficiency caused by mutations in 7 autosomal genes (IFNGR1, IFNGR2, IL12B, IL12BR1, STAT1, ISG15, and IRF8) and an X-linked gene (NEMO). This syndrome presents a high degree of allelic heterogeneity and variable penetrance. This review focuses on the analysis of the first reported cases of these diseases, as well as on the molecular findings involved in each of them.
摘要
自1996年以来，已经开展了多项研究，以描述原发性免疫缺陷与感染环境性和非致病性分枝杆菌（如卡介苗（卡介苗菌株的牛分枝杆菌））以及沙门氏菌属播散性感染之间的关联。这些病症归为所谓的孟德尔分枝杆菌病易感性，包括由7个常染色体基因（IFNGR1、IFNGR2、IL12B、IL12BR1、STAT1、ISG15和IRF8）和一个X连锁基因（NEMO）突变引起的原发性免疫缺陷。该综合征呈现出高度的等位基因异质性和可变外显率。本综述着重分析这些疾病首次报道的病例，以及其中每一种疾病所涉及的分子研究结果。
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