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Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.遗传性 GATA2 缺陷是由杂合性不足引起的显性遗传,并表现出不完全的临床外显率。
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人类对致癌病毒的先天性免疫缺陷。

Human inborn errors of immunity to oncogenic viruses.

机构信息

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, EU, France; University of Paris, Imagine Institute, Paris, EU, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

出版信息

Curr Opin Immunol. 2021 Oct;72:277-285. doi: 10.1016/j.coi.2021.06.017. Epub 2021 Aug 5.

DOI:10.1016/j.coi.2021.06.017
PMID:34364035
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8721657/
Abstract

Oncoviruses are viruses that can cause tumors. Seven viruses are currently recognized as oncogenic in humans: Epstein Barr virus (EBV), Kaposi sarcoma-associated herpesvirus (KSHV, also known as HHV8), human papillomaviruses (HPVs), hepatitis B virus (HBV), hepatitis C virus (HCV), human T-lymphotropic virus-1 (HTLV-1), and Merkel cell polyomavirus (MCPyV). The clinical phenotypes resulting from infection with these oncoviruses range from asymptomatic infection to invasive cancers. Patients with inborn errors of immunity (IEI) are prone to the development of infectious diseases caused by a narrow or broad spectrum of pathogens, including oncoviruses in some cases. Studies of patients with IEI have deepened our understanding of the non-redundant mechanisms underlying the control of EBV, HHV8 and HPV infections. The human genetic factors conferring predisposition to oncogenic HBV, HCV, HTLV-1 and MCPyV manifestations remain elusive. We briefly review here what is currently known about the IEI conferring predisposition to severe infection with oncoviruses.

摘要

致癌病毒是能够引发肿瘤的病毒。目前有七种病毒被认为可导致人类致癌:爱泼斯坦-巴尔病毒(EBV)、卡波济肉瘤相关疱疹病毒(KSHV,也称为 HHV8)、人乳头瘤病毒(HPV)、乙型肝炎病毒(HBV)、丙型肝炎病毒(HCV)、人类 T 淋巴细胞白血病病毒 1 型(HTLV-1)和 Merkel 细胞多瘤病毒(MCPyV)。这些致癌病毒感染导致的临床表型范围从无症状感染到侵袭性癌症。遗传性免疫缺陷病(IEI)患者易发生由窄谱或广谱病原体引起的传染病,包括某些情况下的致癌病毒。对 IEI 患者的研究加深了我们对 EBV、HHV8 和 HPV 感染控制的非冗余机制的理解。赋予人类对致癌性 HBV、HCV、HTLV-1 和 MCPyV 表现易感性的遗传因素仍难以捉摸。我们在这里简要回顾了目前已知的与致癌病毒严重感染易感性相关的 IEI。