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暴发性病毒性肝炎的人类遗传学基础。

Human genetic basis of fulminant viral hepatitis.

机构信息

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR-1163, Necker Hospital for Sick Children, Paris, France.

Imagine Institute, Paris University, Paris, France.

出版信息

Hum Genet. 2020 Jun;139(6-7):877-884. doi: 10.1007/s00439-020-02166-y. Epub 2020 Apr 13.

DOI:10.1007/s00439-020-02166-y
PMID:32285199
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7153696/
Abstract

In rare cases, hepatitis A virus (HAV) and hepatitis B virus (HBV) can cause fulminant viral hepatitis (FVH), characterized by massive hepatocyte necrosis and an inflammatory infiltrate. Other viral etiologies of FVH are rarer. FVH is life-threatening, but the patients are typically otherwise healthy, and normally resistant to other microbes. Only a small minority of infected individuals develop FVH, and this is the key issue to be addressed for this disease. In mice, mouse hepatitis virus 3 (MHV3) infection is the main model for dissecting FVH pathogenesis. Susceptibility to MHV3 differs between genetic backgrounds, with high and low mortality in C57BL6 and A/J mice, respectively. FVH pathogenesis in mice is related to uncontrolled inflammation and fibrinogen deposition. In humans, FVH is typically sporadic, but rare familial forms also exist, suggesting that there may be causal monogenic inborn errors. A recent study reported a single-gene inborn error of human immunity underlying FVH. A patient with autosomal recessive complete IL-18BP deficiency was shown to have FVH following HAV infection. The mechanism probably involves enhanced IL-18- and IFN-γ-dependent killing of hepatocytes by NK and CD8 T cytotoxic cells. Proof-of-principle that FVH can be genetic is important clinically, for the affected patients and their families, and immunologically, for the study of immunity to viruses in the liver. Moreover, the FVH-causing IL18BP genotype suggests that excessive IL-18 immunity may be a general mechanism underlying FVH, perhaps through the enhancement of IFN-γ immunity.

摘要

在罕见情况下,甲型肝炎病毒 (HAV) 和乙型肝炎病毒 (HBV) 可引起暴发性病毒性肝炎 (FVH),其特征为大量肝细胞坏死和炎症浸润。其他病毒性 FVH 的病因则较为少见。FVH 有生命危险,但患者通常健康状况良好,且通常对其他微生物有抵抗力。只有一小部分感染者会发展为 FVH,这是该疾病需要解决的关键问题。在小鼠中,鼠肝炎病毒 3 (MHV3) 感染是解析 FVH 发病机制的主要模型。对 MHV3 的易感性因遗传背景而异,C57BL6 和 A/J 小鼠的死亡率分别较高和较低。小鼠 FVH 的发病机制与不受控制的炎症和纤维蛋白原沉积有关。在人类中,FVH 通常为散发性,但也存在罕见的家族性形式,这表明可能存在因果单基因先天性错误。最近的一项研究报告了人类免疫 FVH 的单基因先天性错误。患有常染色体隐性完全 IL-18BP 缺陷的患者在感染 HAV 后发生 FVH。其机制可能涉及 NK 和 CD8 T 细胞毒性细胞增强了依赖 IL-18 和 IFN-γ 的肝细胞杀伤作用。FVH 可以是遗传性的这一概念已得到证实,这在临床上对受影响的患者及其家属以及免疫学上对肝脏病毒免疫的研究都很重要。此外,导致 FVH 的 IL18BP 基因型表明,过度的 IL-18 免疫可能是 FVH 的一般机制,也许是通过增强 IFN-γ 免疫。

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