Fieschi Claire
Département d'immunologie, Unité d'immunopathologie, Hôpital Saint-Louis, AP-HP, Paris (75).
Presse Med. 2006 May;35(5 Pt 2):879-86. doi: 10.1016/s0755-4982(06)74707-8.
Mendelian susceptibility to mycobacterial disease is a recently described entity, responsible for disseminated disease due to nonvirulent mycobacteria and, to a lesser extent, non-typhoid salmonella in otherwise healthy patients. Different mutations in 5 genes and allelic heterogeneity accounts for 12 different diseases. The proteins encoded by the mutated alleles all belong to the interferon gamma/ìnterleukin 12 loop, a hallmark of granulomatous immune response. Patients with defects in the IFNgamma pathway are predisposed to mycobacterial diseases, while those with defects in the IL-12 pathway are threatened more often by non-typhoid (systemic) salmonellosis. Tuberculosis has been described in both of these signaling pathway defects. Genetic dissection of the IL-12/IFNgamma pathway should improve our understanding of the human immune response to mycobacteria and help us begin to elucidate the genetic bases of tuberculosis.
孟德尔遗传性分枝杆菌病易感性是一种最近才被描述的病症，在原本健康的患者中，它会导致由非致病性分枝杆菌引起的播散性疾病，在较小程度上也会导致非伤寒沙门氏菌感染。5个基因的不同突变以及等位基因异质性导致了12种不同的疾病。突变等位基因所编码的蛋白质均属于干扰素γ/白细胞介素12环路，这是肉芽肿性免疫反应的一个标志。干扰素γ通路存在缺陷的患者易患分枝杆菌病，而白细胞介素12通路存在缺陷的患者则更常受到非伤寒（全身性）沙门氏菌病的威胁。在这两种信号通路缺陷中均有结核病的相关报道。对白细胞介素12/干扰素γ通路进行基因剖析，应能增进我们对人类针对分枝杆菌免疫反应的理解，并有助于我们开始阐明结核病的遗传基础。
