JAK-STAT signaling pathway, immunodeficiency, inflammation, immune dysregulation, and inborn errors of immunity.

IF 11.4 1区 医学 Q1 ALLERGY Journal of Allergy and Clinical Immunology Pub Date : 2024-10-04 DOI:10.1016/j.jaci.2024.09.020
Simran Samra, Jenna R E Bergerson, Alexandra F Freeman, Stuart E Turvey
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Abstract

The Janus kinase-signal transducer and activator of transcription (JAK-STAT) signaling cascade is an evolutionarily conserved signal transduction pathway that regulates many vital cellular processes, including immune function and hematopoiesis. Human genetic variants that disrupt JAK-STAT signaling are being found to cause a rapidly increasing number of diseases, including both germline-encoded inborn errors of immunity (IEI) and acquired somatic variants, causing a so-called phenocopy of the IEI. Multiple genetic mechanisms are responsible for this growing group of JAK-STAT diseases including loss-of-function, gain-of-function, and dominant negative effects. In this review, we discuss the clinical presentation and pathogenesis of all currently described JAK-STAT defects, as well as provide an overview of the guiding principles to consider in diagnosing and treating these conditions.

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干扰人类 JAK-STAT 信号的先天性免疫错误和体细胞变异表型。
Janus 激酶-信号转导和转录激活因子(JAK-STAT)信号级联是一种进化保守的信号转导途径,它调节着许多重要的细胞过程,包括免疫功能和造血功能。目前发现,干扰 JAK-STAT 信号转导的人类基因变异会导致越来越多的疾病,包括基因编码的先天性免疫错误(IEI)和导致 IEI "表型复制 "的获得性体细胞变异。多种遗传机制导致了越来越多的 JAK-STAT 疾病,包括功能缺失(LOF)、功能获得(GOF)和显性负(DN)效应。在这篇综述中,我们将讨论目前描述的所有 JAK/STAT 缺陷的临床表现和发病机制,并概述诊断和治疗这些疾病时应考虑的指导原则。
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来源期刊
CiteScore
25.90
自引率
7.70%
发文量
1302
审稿时长
38 days
期刊介绍: The Journal of Allergy and Clinical Immunology is a prestigious publication that features groundbreaking research in the fields of Allergy, Asthma, and Immunology. This influential journal publishes high-impact research papers that explore various topics, including asthma, food allergy, allergic rhinitis, atopic dermatitis, primary immune deficiencies, occupational and environmental allergy, and other allergic and immunologic diseases. The articles not only report on clinical trials and mechanistic studies but also provide insights into novel therapies, underlying mechanisms, and important discoveries that contribute to our understanding of these diseases. By sharing this valuable information, the journal aims to enhance the diagnosis and management of patients in the future.
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