{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T17:40:10Z","timestamp":1790185210143,"version":"4.1.0"},"reference-count":52,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T00:00:00Z","timestamp":1763942400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T00:00:00Z","timestamp":1763942400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>22q11 deletion syndrome (22q11DS) is a genetic disorder caused by a deletion at chromosome 22q11.2. Chronic arthritis may be occasionally observed in these, if this manifestion represents a concomitant association of two diseases or a rare complication of Di George syndrome is still a debate. This study aims to describe a retrospective, multicenter analysis of patients with 22q11DS, who developed chronic inflammatory arthritis, focusing on clinical presentation, diagnosis, and management.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>An e-mail survey was distributed to pediatric centers, identifying patients diagnoses with both 22q11DS and chronic arthritis from 1992 to 2024. The clinical course was documented through medical record review.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 30 patients were identified with a female predominance (20 cases). The median age at 22q11DS diagnosis was 12 months, and 3 years at arthritis onset. Polyarticular involvement was observed in 50.0% of patients, and the median number of affected joints at onset among all patients was 4.5 (range 1\u201325). Only one child developed uveitis. Erythrocyte sedimentation rate was elevated in 72.0% of tested patients, and C-reactive protein in 83.3%. Antinuclear antibodies was negative in 23.3% of patients, while rheumatoid factor (RF) and cyclic citrullinated peptide (CCP) antibodies were consistently negative. Treatment included systemic glucocorticoids (53.3%), methotrexate (66.6%), and biologic agents (56.7%). Infections were generally mild, primarily affecting the respiratory tract. At last follow-up, arthritis persisted active in 53.3% of cases, with 78.6% of those in remission still on medication.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Arthritis in 22q11DS appears to be a distinct clinical entity characterized by an aggressive phenotype and a severe, prolonged course, typically lacking CCP and RF antibodies and rarely associated with uveitis. These features suggest a distinct clinical entity, diverging from classical juvenile idiopathic arthritis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-025-04088-2","type":"journal-article","created":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T11:49:35Z","timestamp":1763984975000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study"],"prefix":"10.1186","volume":"20","author":[{"given":"Emily","family":"Liebling","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Freychet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Guarnieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marija","family":"Jelusic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi Ant\u00f3n","family":"L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tilmann","family":"Kallinich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Montin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liza J.","family":"McCann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Bader-Meunier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terence Blaine","family":"Crowley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Lemelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna","family":"McDonald-McGinn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Serrano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Louis","family":"Stephan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Azzari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Simonini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9292-7601","authenticated-orcid":false,"given":"Teresa","family":"Giani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,11,24]]},"reference":[{"issue":"2","key":"4088_CR1","doi-asserted-by":"publisher","first-page":"18","DOI":"10.3390\/jdb10020018","volume":"10","author":"N Funato","year":"2022","unstructured":"Funato N. 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