Work

JAK inhibition in Down Syndrome Regression Disorder

Year: 2024

Type: article

Study design: Case Report

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.

Source: Journal of Neuroimmunology

DOI: 10.1016/j.jneuroim.2024.578442

Authors: 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

Institutions: University of Colorado Anschutz, University of Colorado Denver, Colorado State University, University of Southern California, Children's Hospital of Los Angeles

Language: English

Topic: Down syndrome and intellectual disability research

Subfield: Public Health, Environmental and Occupational Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,620

Funders: Global Down Syndrome Foundation, National Heart, Lung, and Blood Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Mechanistic investigation of therapies for Down Syndrome Regression Disorder, JAK Inhibition in Down Syndrome, JAK Inhibition in Down Syndrome, Mechanistic investigation of therapies for Down Syndrome Regression Disorder, Non-invasive biometric screening for cerebrovascular disorders in persons with Down syndrome.

OpenAlex ID: W4401802151

FWCI: 6.009

Cites: 29

Cited by: 16

Related to: 10