Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency.

IF 12.6 1区 医学 Q1 IMMUNOLOGY
Journal of Experimental Medicine Pub Date : 2025-05-05 Epub Date: 2025-04-15 DOI:10.1084/jem.20241047
András N Spaan, Bertrand Boisson, Seth L Masters
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引用次数: 0

Abstract

The last decades have brought a rapid expansion of the number of primary disorders related to the polyubiquitination pathways in humans. Most of these disorders manifest with two seemingly contradictory clinical phenotypes: autoinflammation, immunodeficiency, or both. We provide an overview of the molecular pathogenesis of these disorders, and their role in inflammation and infection. By focusing on data from human genetic diseases, we explore the complexities of the polyubiquitination pathways and the corresponding clinical phenotypes of their deficiencies. We offer a road map for the discovery of new genetic etiologies. By considering the triggers that induce inflammation, we propose autoinflammation and immunodeficiency as continuous clinical phenotypes.

多泛素化的原发性疾病:在自身炎症和免疫缺陷中的双重作用。
在过去的几十年里,与人类多泛素化途径相关的原发性疾病的数量迅速增加。大多数这些疾病表现为两种看似矛盾的临床表型:自身炎症,免疫缺陷,或两者兼而有之。我们概述了这些疾病的分子发病机制,以及它们在炎症和感染中的作用。通过关注人类遗传疾病的数据,我们探索了多泛素化途径的复杂性及其缺陷的相应临床表型。我们为发现新的遗传病因提供了路线图。通过考虑诱发炎症的触发因素,我们提出自体炎症和免疫缺陷作为连续的临床表型。
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来源期刊
CiteScore
26.60
自引率
1.30%
发文量
189
审稿时长
3-8 weeks
期刊介绍: Since its establishment in 1896, the Journal of Experimental Medicine (JEM) has steadfastly pursued the publication of enduring and exceptional studies in medical biology. In an era where numerous publishing groups are introducing specialized journals, we recognize the importance of offering a distinguished platform for studies that seamlessly integrate various disciplines within the pathogenesis field. Our unique editorial system, driven by a commitment to exceptional author service, involves two collaborative groups of editors: professional editors with robust scientific backgrounds and full-time practicing scientists. Each paper undergoes evaluation by at least one editor from both groups before external review. Weekly editorial meetings facilitate comprehensive discussions on papers, incorporating external referee comments, and ensure swift decisions without unnecessary demands for extensive revisions. Encompassing human studies and diverse in vivo experimental models of human disease, our focus within medical biology spans genetics, inflammation, immunity, infectious disease, cancer, vascular biology, metabolic disorders, neuroscience, and stem cell biology. We eagerly welcome reports ranging from atomic-level analyses to clinical interventions that unveil new mechanistic insights.
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