抑制 JAK 在唐氏综合征回归障碍中的作用

IF 2.9 4区医学 Q3 IMMUNOLOGY

Journal of neuroimmunology Pub Date : 2024-08-22 DOI:10.1016/j.jneuroim.2024.578442

Angela L. Rachubinski , Lina R. Patel , Elise M. Sannar , Ryan M. Kammeyer , Jessica Sanders , Belinda A. Enriquez-Estrada , Kayleigh R. Worek , Deborah J. Fidler , Jonathan D. Santoro , Joaquin M. Espinosa

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引用次数: 0

摘要

唐氏综合征回归障碍（DRSD）是一种不常见但具有破坏性的疾病，主要影响患有唐氏综合征（DS）的青少年和年轻人。唐氏综合征患者的免疫系统失调，干扰素信号传导亢进，这与自身免疫性疾病的高发病率有关。虽然 DSRD 的病因尚不清楚，但越来越多的证据表明它可能有免疫基础，而且一些 DSRD 患者对静脉注射免疫球蛋白疗法有反应。本系列病例描述了三名可能患有 DSRD 的患者接受 JAK 抑制剂托法替尼治疗后，神经功能多个领域的 DSRD 症状都得到了改善。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

JAK inhibition in Down Syndrome Regression Disorder

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JAK inhibition in Down Syndrome Regression Disorder

Down Syndrome Regression Disorder (DRSD) is an uncommon but devastating condition affecting primarily adolescents and young adults with Down syndrome (DS). Individuals with DS display a dysregulated immune system associated with hyperactive interferon signaling, which is associated with a high incidence of autoimmune conditions. While the cause of DSRD is unknown, increasing evidence indicates that it may have an immune basis, and some individuals with DSRD have responded to intravenous immunoglobulin therapy. This case series describes three individuals with probable DSRD who received the JAK inhibitor tofacitinib and saw improvement in DSRD symptoms across multiple domains of neurological function.

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来源期刊

Journal of neuroimmunology 医学-免疫学

CiteScore

6.10

自引率

3.00%

发文量

154

审稿时长

37 days

期刊介绍： The Journal of Neuroimmunology affords a forum for the publication of works applying immunologic methodology to the furtherance of the neurological sciences. Studies on all branches of the neurosciences, particularly fundamental and applied neurobiology, neurology, neuropathology, neurochemistry, neurovirology, neuroendocrinology, neuromuscular research, neuropharmacology and psychology, which involve either immunologic methodology (e.g. immunocytochemistry) or fundamental immunology (e.g. antibody and lymphocyte assays), are considered for publication.