{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T13:52:41Z","timestamp":1790949161676,"version":"4.1.0"},"reference-count":34,"publisher":"The Journal of Rheumatology","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Rheumatol"],"accepted":{"date-parts":[[2024,7,11]]},"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study aimed to provide a comprehensive overview of the clinical features, laboratory and screening results, treatment options, and outcomes of patients with type I interferonopathy. Our secondary goal was to identify the predictors of long-term morbidity or mortality.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We included children with genetically confirmed type I interferonopathies, with a follow-up duration of &gt; 1 year. Data were obtained retrospectively from medical records.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of the 40 eligible patients for the study, 52.5% were female, with a median age of disease onset of 1.5 years (range 0.1-13.2 yrs). They were diagnosed at an average age of 6.8 (SD 4.6) years. Aicardi-Gouti\u00e8res syndrome was the most common diagnosis (n = 15, 37.5%). The central nervous system was the most frequently affected system (n = 27, 67.5%). Janus kinase inhibitors were administered to 17 (42.5%) patients. Twenty-five patients (62.5%) developed at least 1 permanent morbidity or died during follow-up; thus, they were included in the poor outcome group. Although younger age at disease onset, intracranial calcification (ICC), and lack of chilblains and elevated acute-phase reactants were significant in univariate logistic regression analysis, only ICC on magnetic resonance imaging at admission (adjusted odds ratio 19.69, 95% CI 1.08-359.05,\n                      <jats:italic>P<\/jats:italic>\n                      = 0.04) was found to be a significant predictor of poor outcomes in multivariate logistic regression analysis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>For the first time, we evaluated the predictors of poor outcomes in patients with type I interferonopathy with a broad spectrum of subtypes. Further, our study\u2019s unique patient characteristics can provide valuable insights into these extremely rare conditions.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3899\/jrheum.2024-0294","type":"journal-article","created":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T08:28:56Z","timestamp":1722500936000},"page":"1208-1217","source":"Crossref","is-referenced-by-count":13,"title":["Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient 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