{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Rachubinski AL"],"funding":["National Institute of Allergy and Infectious Diseases","National Center for Advancing Translational Sciences","National Institute of Arthritis and Musculoskeletal and Skin Diseases","Anna and John J. Sie Foundation","Global Down Syndrome Foundation","Boettcher Foundation","NCATS NIH HHS","NIAID NIH HHS","National Cancer Institute","NCI NIH HHS","NIAMS NIH HHS","Fast Grants"],"pagination":["RP99323"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11687933"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13"],"pubmed_abstract":["<h4>Background</h4>Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmunity and severe complications from infections. Although it is well established that T21 causes increased interferon responses and JAK/STAT signaling, elevated autoantibodies, global immune remodeling, and hypercytokinemia, the interplay between these processes, the clinical manifestations of DS, and potential therapeutic interventions remain ill defined.<h4>Methods</h4>We report a comprehensive analysis of immune dysregulation at the clinical, cellular, and molecular level in hundreds of individuals with DS, including autoantibody profiling, cytokine analysis, and deep immune mapping. We also report the interi"],"journal":["eLife"],"pubmed_title":["JAK inhibition decreases the autoimmune burden in Down syndrome."],"pmcid":["PMC11687933"],"funding_grant_id":["T32 CA190216","UM1TR004399","P30 CA046934","2T32AR007411-31","R61 AR077495","R61AR077495","P30CA046934","T32CA190216","R01AI150305","R01 AI150305","T32 AR007411","UM1 TR004399"],"pubmed_authors":["Fidler DJ","Enriquez-Estrada BA","Araya P","Worek KR","Galbraith MD","Granrath RE","Rachubinski AL","Smith KP","Donovan MG","Espinosa JM","Waugh KA","Hill AA","Martin B","Eduthan NP","Norris DA","Dunnick CA","Sullivan KD","Wallace E","Lyford HR","Britton E","Patel L","Gurnee E"],"additional_accession":[]},"is_claimable":false,"name":"JAK inhibition decreases the autoimmune burden in Down syndrome.","description":"<h4>Background</h4>Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmunity and severe complications from infections. Although it is well established that T21 causes increased interferon responses and JAK/STAT signaling, elevated autoantibodies, global immune remodeling, and hypercytokinemia, the interplay between these processes, the clinical manifestations of DS, and potential therapeutic interventions remain ill defined.<h4>Methods</h4>We report a comprehensive analysis of immune dysregulation at the clinical, cellular, and molecular level in hundreds of individuals with DS, including autoantibody profiling, cytokine analysis, and deep immune mapping. We also report the interi","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Dec","modification":"2026-06-02T07:28:50.65Z","creation":"2025-04-05T17:01:22.516Z"},"accession":"S-EPMC11687933","cross_references":{"pubmed":["39737640"],"doi":["10.7554/eLife.99323"]}}