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.
Authors
- Deborah J. Fidler (ORCID: https://orcid.org/0000-0001-6208-456X)
- Ryan Kammeyer (ORCID: https://orcid.org/0000-0001-8657-3106)
- Jonathan Douglas Santoro (ORCID: https://orcid.org/0000-0002-8350-8234)
- Elise M. Sannar (ORCID: https://orcid.org/0000-0001-8870-8377)
- Jessica Solomon Sanders (ORCID: https://orcid.org/0000-0001-5829-0504)
- Joaquı́n M. Espinosa (ORCID: https://orcid.org/0000-0001-9048-1941)
- Kayleigh R Worek
- Angela L. Rachubinski (ORCID: https://orcid.org/0000-0003-1150-3976)
- Belinda A Enriquez-Estrada
- Lina Patel
Institutions
- Children's Hospital of Los Angeles (US)
- University of Colorado Anschutz Medical Campus (US)
- University of Colorado Denver (US)
- Colorado State University (US)
Publication Details
- Journal
- Journal of Neuroimmunology
- Published
- 2024-08-23
- DOI
- https://doi.org/10.1016/j.jneuroim.2024.578442
- Citations
- 8
- Primary Topic
- Down syndrome and intellectual disability research
- Type
- article
- Field-Weighted Citation Impact
- 4.34
Funders
- Global Down Syndrome Foundation
- 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