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Case Reports
. 2024 Oct 15:395:578442.
doi: 10.1016/j.jneuroim.2024.578442. Epub 2024 Aug 22.

JAK inhibition in Down Syndrome Regression Disorder

Angela L Rachubinski  1 , Lina R Patel  2 , Elise M Sannar  3 , Ryan M Kammeyer  4 , Jessica Sanders  5 , Belinda A Enriquez-Estrada  2 , Kayleigh R Worek  2 , Deborah J Fidler  6 , Jonathan D Santoro  7 , Joaquin M Espinosa  8
Affiliations
Case Reports

JAK inhibition in Down Syndrome Regression Disorder

Angela L Rachubinski et al. J Neuroimmunol. .

Abstract

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.

Keywords: Catatonia; Down syndrome regression disorder (DSRD); Interferon; JAK inhibition; Tofacitinib.

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Conflict of interest statement

Declaration of competing interest J.M.E. has provided consulting services for Elli Lily and Co., Gilead Sciences Inc., Biohaven Pharmaceuticals, and Perha Pharmaceuticals.

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