Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, 12700 East 19(th) Avenue, Aurora, CO 80045, United States; Department of Pediatrics, Section of Developmental Pediatrics, University of Colorado Anschutz Medical Campus, 13123 E. 16(th) Ave. B065 Aurora, CO 80045, United States.
Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, 12700 East 19(th) Avenue, Aurora, CO 80045, United States.
J Neuroimmunol. 2024 Oct 15;395:578442. doi: 10.1016/j.jneuroim.2024.578442. Epub 2024 Aug 22.
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.
唐氏综合征退行性障碍（DRSD）是一种罕见但具有破坏性的疾病，主要影响唐氏综合征（DS）的青少年和年轻成人。DS 患者表现出免疫系统失调，与干扰素信号过度活跃有关，这与自身免疫性疾病的高发率有关。虽然 DSRD 的病因尚不清楚，但越来越多的证据表明它可能具有免疫基础，并且一些 DSRD 患者对静脉注射免疫球蛋白治疗有反应。本病例系列描述了 3 名可能患有 DSRD 的患者，他们接受了 JAK 抑制剂托法替尼治疗，在神经功能的多个领域中，DRSD 症状均有改善。
