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首页> 外文期刊>Nature immunology >HOIL and water: The two faces of HOIL-1 deficiency
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HOIL and water: The two faces of HOIL-1 deficiency

机译：HOIL和水：HOIL-1缺乏的两个方面

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Human congenital diseases that manifest as either autoinflammation or immunodeficiency are rare, although much can be learned from these types of disorders when their genetic etiologies are identified and the molecular mechanisms are elucidated. Previously unappreciated pathways in inflammation, host defense and immunoregulation with broad applications can be identified through the examination of these 'experiments of nature'. Because of ever-improving genetic and genomic technologies, the pace of discovery of these conditions has intensified. In this issue of Nature Immunology, Boisson et al. describe a previously unknown disease caused by mutations in RBCK1 (called 'H0IL1' here), which encodes HOIL-1, a component of the linear-ubiquitin-chain-assembly complex (LUBAC), and report that this disease has clinical and laboratory features of both autoinflammation and immunodeficiency.
机译：尽管表现出遗传病因并阐明了分子机制，但从这些类型的疾病中可以学到很多，但表现为自发炎症或免疫缺陷的人类先天性疾病很少见。通过检查这些“自然实验”，可以确定以前在炎症，宿主防御和免疫调节中未被广泛认识的途径。由于不断改进的遗传和基因组技术，发现这些疾病的步伐加快了。在本期《自然免疫学》中，Boisson等人。描述了由RBCK1突变（此处称为“ H0IL1”）引起的先前未知的疾病，该基因编码HOIL-1（线性泛素链组装复合体（LUBAC）的组成部分），并报告该疾病具有临床和实验室特征自身炎症和免疫缺陷。

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