Filipe-Santos Orchidée, Bustamante Jacinta, Chapgier Ariane, Vogt Guillaume, de Beaucoudrey Ludovic, Feinberg Jacqueline, Jouanguy Emmanuelle, Boisson-Dupuis Stéphanie, Fieschi Claire, Picard Capucine, Casanova Jean-Laurent
Laboratory of Human Genetics of Infectious Diseases, University of Paris René Descartes-INSERM U 550, Necker Medical School, 75015 Paris, France, EU.
Semin Immunol. 2006 Dec;18(6):347-61. doi: 10.1016/j.smim.2006.07.010. Epub 2006 Sep 25.
Mendelian susceptibility to mycobacterial diseases confers predisposition to clinical disease caused by weakly virulent mycobacterial species in otherwise healthy individuals. Since 1996, disease-causing mutations have been found in five autosomal genes (IFNGR1, IFNGR2, STAT1, IL12B, IL12BR1) and one X-linked gene (NEMO). These genes display a high degree of allelic heterogeneity, defining at least 13 disorders. Although genetically different, these conditions are immunologically related, as all result in impaired IL-12/23-IFN-gamma-mediated immunity. These disorders were initially thought to be rare, but have now been diagnosed in over 220 patients from over 43 countries worldwide. We review here the molecular, cellular, and clinical features of patients with inborn errors of the IL-12/23-IFN-gamma circuit.
孟德尔遗传性分枝杆菌病易感性使原本健康的个体易患由弱毒力分枝杆菌引起的临床疾病。自1996年以来，已在五个常染色体基因（IFNGR1、IFNGR2、STAT1、IL12B、IL12BR1）和一个X连锁基因（NEMO）中发现致病突变。这些基因表现出高度的等位基因异质性，定义了至少13种疾病。尽管这些疾病在遗传上各不相同，但在免疫方面存在关联，因为所有疾病都会导致IL-12/23-γ干扰素介导的免疫功能受损。这些疾病最初被认为很罕见，但目前已在全球43个以上国家的220多名患者中得到诊断。我们在此综述IL-12/23-γ干扰素通路先天性缺陷患者的分子、细胞和临床特征。
