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遗传性免疫疾病对包括新冠病毒感染、炎症性肠病和癌症在内的感染性疾病的影响。

The impact of genetic immune disorders on infections including COVID-19, inflammatory bowel disease and cancer.

作者信息

Xiang Chen, Park Ann Y, Weber Sarah E, Lenardo Michael J, Ozen Ahmet, Cui Jing

机构信息

Molecular Development of the Immune System Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

出版信息

Nat Immunol. 2025 Jul 28. doi: 10.1038/s41590-025-02225-4.

Abstract

Inborn errors of immunity (IEIs) are rare genetic anomalies that cause defective immune function. Over 500 IEIs have been identified to date, affecting millions of patients globally. These IEIs reveal the complex interplay between genetics, the environment and microorganisms that determine immune disease phenotypes. Progress in understanding the molecular and cellular mechanisms of IEIs provides a genetic framework for a functional understanding of the human immune system, disease pathogenesis and successful therapeutic interventions. This Review describes how IEIs impact infectious diseases, particularly coronavirus disease 2019, inflammatory bowel disease and cancer.

摘要

遗传性免疫缺陷病(IEIs)是罕见的基因异常疾病,可导致免疫功能缺陷。迄今为止,已鉴定出500多种遗传性免疫缺陷病,全球数百万患者受其影响。这些遗传性免疫缺陷病揭示了决定免疫疾病表型的基因、环境和微生物之间的复杂相互作用。在理解遗传性免疫缺陷病的分子和细胞机制方面取得的进展为从功能上理解人类免疫系统、疾病发病机制和成功的治疗干预提供了遗传学框架。本综述描述了遗传性免疫缺陷病如何影响传染病,特别是2019冠状病毒病、炎症性肠病和癌症。

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