多聚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。
Primary disorders of polyubiquitination: Dual roles in autoinflammation and immunodeficiency.
作者信息
Spaan András N, Boisson Bertrand, Masters Seth L
机构信息
Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
出版信息
J Exp Med. 2025 May 5;222(5). doi: 10.1084/jem.20241047. Epub 2025 Apr 15.
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.
在过去几十年里，与人类多聚泛素化途径相关的原发性疾病数量迅速增加。这些疾病大多表现出两种看似矛盾的临床表型：自身炎症、免疫缺陷或两者皆有。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，我们探索了多聚泛素化途径的复杂性及其缺陷所对应的临床表型。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，我们提出自身炎症和免疫缺陷是连续的临床表型。
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