JAK inhibition in Down Syndrome Regression Disorder

被引：1

作者：

Rachubinski, Angela L. ^{[1
,2
]}

Patel, Lina R. ^{[1
]}

Sannar, Elise M. ^{[3
]}

Kammeyer, Ryan M. ^{[4
]}

Sanders, Jessica ^{[2
]}

Enriquez-Estrada, Belinda A. ^{[1
]}

Worek, Kayleigh R. ^{[1
]}

Fidler, Deborah J. ^{[5
]}

Santoro, Jonathan D. ^{[6
,7
]}

Espinosa, Joaquin M. ^{[1
,8
]}

机构：

[1] Univ Colorado, Linda Crn Inst Down Syndrome, Anschutz Med Campus, 12700 East 19th Ave, Aurora, CO 80045 USA

[2] Univ Colorado, Dept Pediat, Sect Dev Pediat, Anschutz Med Campus, 13123 E 16th Ave B065, Aurora, CO 80045 USA

[3] Univ Colorado, Dept Psychiat, Anschutz Med Campus, 13123 E 16th Ave, Aurora, CO 80045 USA

[4] Univ Colorado, Sch Med, Dept Neurol, Sect Neuroimmunol, 13123 E 16th Ave, Aurora, CO 80045 USA

[5] Colorado State Univ, Human Dev & Family Studies, 313 Behav Sci, Ft Collins, CO 80523 USA

[6] Childrens Hosp Los Angeles, Dept Pediat, Div Neurol, 4650 Sunset Blvd,MS82, Los Angeles, CA 90027 USA

[7] Univ Southern Calif, Dept Neurol, Keck Sch Med, 1520 San Pablo St, Los Angeles, CA 90033 USA

[8] Univ Colorado, Dept Pharmacol, Anschutz Med Campus, 12800 East 19th Ave 6126, Aurora, CO 80045 USA

来源：

JOURNAL OF NEUROIMMUNOLOGY | 2024年 / 395卷

关键词：

Down syndrome regression disorder (DSRD); JAK inhibition; Catatonia; Tofacitinib; Interferon; DEVELOPMENTAL REGRESSION; PSYCHOSOCIAL STRESS; CHILDREN; ADOLESCENTS; INTERFERON; DEPRESSION;

D O I：

10.1016/j.jneuroim.2024.578442

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页数：5

共 29 条

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