{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T14:00:18Z","timestamp":1781272818228,"version":"3.54.1"},"reference-count":22,"publisher":"The Journal of Rheumatology","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Rheumatol"],"accepted":{"date-parts":[[2025,3,7]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We sought to investigate the effectiveness of the Janus kinase 1\/3 inhibitor (JAK1\/3i) tofacitinib (TOF) in treating Blau syndrome (BS), and to explore the association between various clinical and genetic features and therapeutic responses within the cohort.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A 5-year, multicenter, retrospective, observational study (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/ClinicalTrials.gov\">ClinicalTrials.gov<\/jats:ext-link>: <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"clintrialgov\" xlink:href=\"NCT06688838\">NCT06688838<\/jats:ext-link>) was conducted across 7 centers, focusing on genetic profiles and the clinical manifestations of the cohort. Genetic analysis, including whole-exome sequencing and <jats:italic>nucleotide-binding oligomerization domain 2<\/jats:italic> (<jats:italic>NOD2<\/jats:italic>) and <jats:italic>signal transducer and activator of transcription 3<\/jats:italic> (<jats:italic>STAT3)<\/jats:italic> rs2293152 phenotypic comparisons, was performed to assess therapeutic responses.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>All patients had arthritis, with 2 cases being oligoarticular and 22 polyarticular. The joints primarily affected included the wrists, proximal interphalangeal joints, ankles, and knees. Radiographic analysis revealed symmetrical nonerosive arthropathy in 92.3% of patients. Notably, two-thirds of the cohort displayed previously unrecognized dysplastic bone changes. Ocular involvement was observed in all patients. Notably, no association was found between different <jats:italic>NOD2<\/jats:italic> sequences and therapy response. Conversely, patients harboring the <jats:italic>STAT3<\/jats:italic> rs2293152 GG polymorphism demonstrated favorable responses to treatment, regardless of whether JAK1\/3i or tumor necrosis factor inhibitors (TNFi) were used.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>TOF could be an effective therapeutic option for patients with BS who demonstrate resistance to TNFi or corticosteroids. Specifically, the <jats:italic>STAT3<\/jats:italic> rs2293152 GG polymorphism was associated with improved response to treatment, suggesting a genotype-influenced therapeutic efficacy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.3899\/jrheum.2024-0822","type":"journal-article","created":{"date-parts":[[2025,4,15]],"date-time":"2025-04-15T08:45:23Z","timestamp":1744706723000},"page":"810-816","source":"Crossref","is-referenced-by-count":1,"title":["Effective Treatment of Janus Kinase 1\/3 Inhibitor in Blau Syndrome From a Multicenter Retrospective Study in Central China"],"prefix":"10.3899","volume":"52","author":[{"given":"Yangyang","family":"Hu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengcheng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinhua","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhipeng","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yikai","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2262","published-online":{"date-parts":[[2025,4,15]]},"reference":[{"key":"2025080703551675000_52.8.810.1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2022.988862"},{"key":"2025080703551675000_52.8.810.2","doi-asserted-by":"publisher","DOI":"10.3109\/08820538.2013.825285"},{"key":"2025080703551675000_52.8.810.3","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-07-2972"},{"key":"2025080703551675000_52.8.810.4","doi-asserted-by":"crossref","first-page":"537","DOI":"10.23736\/S0392-0488.19.06524-6","article-title":"Blau 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