Expanding IPEX: Inborn Errors of Regulatory T Cells

IF 2.6 4区医学 Q2 RHEUMATOLOGY

Rheumatic Disease Clinics of North America Pub Date : 2023-07-28 DOI:10.1016/j.rdc.2023.06.009

Holly Wobma MD, PhD , Erin Janssen MD, PhD

引用次数: 1

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IPEX扩增：调节性T细胞的先天性错误。

调节性T细胞（Tregs）对于增强外周耐受性至关重要。影响Treg发育、稳定性和/或功能的单基因“Tregopathies”通常存在于多自身免疫、特应性疾病和感染中。虽然自身免疫性表现可能出现在儿童早期，但随着更多疾病的特征，已经确定了发病较晚的情况。Tregopathies血液中的Treg数量可能会减少，但情况并非总是如此，当临床怀疑度高时，应进行基因检测。目前，造血细胞移植是唯一的治疗方法，但基因疗法正在开发中，小分子抑制剂/生物制剂也可能被使用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Rheumatic Disease Clinics of North America 医学-风湿病学

CiteScore

4.20

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Rheumatic Disease Clinics updates you on the latest trends in patient management, keeps you up to date on the newest advances, and provides a sound basis for choosing treatment options. Each issue (February, May, August, and November) focuses on a single topic in rheumatology and is presented under the direction of an experienced editor. Topics include osteoarthritis, rheumatoid arthritis, crystal diseases, MSK exam, disorders of the bone, immunodeficiency states, lupus, neuromuscular disease, pain disorders, scleroderma, vasculitis, pediatrics, therapeutics, treatment guidelines, and treatment modalities.