Document Type
Article
Publication Date
7-16-2022
Identifier
DOI: 10.1155/2022/4889102; PMCID: PMC9308516
Abstract
Down syndrome (DS) results from a trisomy of chromosome 21, which causes immune dysregulation that leads to hyperactivation of interferon and Janus kinase (JAK) signaling. This results in complex medical abnormalities in the immune system and an increase in autoimmune and autoinflammatory conditions such as down syndrome-associated arthritis (DA). DA is an aggressive, destructive, inflammatory arthritis that is easily misdiagnosed and difficult to treat. Treatment commonly includes immunosuppressive therapy, but these are often associated with adverse effects and ineffectiveness. This case report outlines a 6-year-old male with DA that was successfully treated with the JAK inhibitor tofacitinib. Due to the aggressive nature of DA and poor response to many immunosuppressive therapies, this case report was created to increase awareness of JAK inhibition as an effective, well-tolerated treatment for DA.
Journal Title
Case Rep Rheumatol
Volume
2022
First Page
4889102
Last Page
4889102
Recommended Citation
Jones JT. Treatment of Down Syndrome-Associated Arthritis with JAK Inhibition. Case Rep Rheumatol. 2022;2022:4889102. Published 2022 Jul 16. doi:10.1155/2022/4889102
Comments
This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Publisher's Link: https://www.hindawi.com/journals/crirh/2022/4889102/