A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.
A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.
复制标题
对肉芽肿性疾病的遗传观点，重点是分枝杆菌感染。
DOI：
10.1007/s00281-015-0552-y
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发表时间：
2016-03
影响因子：
9
通讯作者：
Holland SM
中科院分区：
文献类型：
--
作者：
Wu UI;Holland SM
鉴定易致分枝杆菌感染的遗传因素一直是激烈研究活动的主题。目前对分枝杆菌易感性的遗传和免疫学基础的了解主要来自自然人和卡介苗和非结核性分枝杆菌感染的实验模型。这些观察结果支持IL-12/IFN-γ通路在控制分枝杆菌感染中的核心作用。在这篇综述中，我们讨论了简单和复杂遗传与分枝杆菌疾病易感性相关的知识。我们特别强调单基因疾病，因为这些清楚地指出途径和可以引证机制。我们还描述了临床，免疫学和病理特征，可以引导临床研究在适当的方向。
Identification of the genetic factors predisposing to mycobacterial infections has been a subject of intense research activities. Current knowledge of the genetic and immunological basis of susceptibility to mycobacteria largely comes from natural human and experimental models of Bacille Calmette Guérin (BCG) and nontuberculous mycobacterial infections. These observations support the central role of the IL-12/IFN-γ pathway in controlling mycobacterial infection. In this review, we discuss the knowledge that associates both simple and complex inheritance with susceptibility to mycobacterial diseases. We place a special emphasis on monogenic disorders, since these clearly pinpoint pathway and can adduce mechanism. We also describe the clinical, immunological and pathological features that may steer clinical investigation in the appropriate directions.