{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T23:18:00Z","timestamp":1790983080454,"version":"4.1.0"},"reference-count":26,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T00:00:00Z","timestamp":1785283200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>DiGeorge syndrome (DGS) is an inborn error of immunity characterized by wide phenotypic variability, with a broad spectrum of autoimmune manifestations, including autoimmune cytopenias, thyroiditis, and juvenile idiopathic arthritis (JIA). However, the clinical features of JIA in DGS are not fully understood. Here, we report a case of DGS with JIA and provide a comprehensive review to facilitate early diagnosis and management.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case description<\/jats:title>\n                    <jats:p>A 22-month-old girl had a history of frequent respiratory infections and delayed speech after birth. She also had dysmorphic facial features and developmental delay. She had undergone repair of a ventricular septal defect at 3 months of age, during which the thymus was not visualized. Genetic testing revealed a partial heterozygous deletion of 22q11.2. She presented with inflammatory polyarthritis involving bilateral knees and the left hand for 5 months. Antinuclear antibody (ANA) was positive with a titer of 1:320. Anti-cyclic citrullinated peptide antibody showed weakly positive. Magnetic resonance imaging showed synovitis of the affected joints. The patient experienced frequent respiratory infections and delayed speech after birth. Gene examination showed a partial heterozygous deletion of 22q11.2. Thus, she was diagnosed as DGS with JIA. Etanercept was initiated after 4 months of ineffective treatment with naproxen and methotrexate, and remission was observed after 6 months of treatment. Literature review showed a female predominance (62.7%, 32\/51) in this population; 80.4% (41\/51) were diagnosed before 6 years of age and 62.7% (32\/51) had polyarticular involvement. Moreover, 54.2% (26\/48) were positive for ANA. Tumor necrosis factor inhibitors (TNFis), mainly etanercept or adalimumab, were used in 20 cases, with more than half of patients responding well to biologics.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The disease has an early onset and polyarthritis is the most common type. Clinicians should suspect underlying DGS in a child presenting with JIA when accompanied by dysmorphic facial features, recurrent infections, congenital heart disease, hypoparathyroidism with hypocalcemia and hyperphosphatemia, and\/or decreased T-cell subsets. Treatment with TNFi should be considered when non-steroidal anti-inflammatory drugs and methotrexate are ineffective. Furthermore, follow-up is essential for monitoring adverse drug reactions and proposing prompt intervention.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fimmu.2026.1859919","type":"journal-article","created":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T06:02:55Z","timestamp":1785304975000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Juvenile idiopathic arthritis in DiGeorge syndrome: a case report and literature review"],"prefix":"10.3389","volume":"17","author":[{"given":"Liping","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children\u2019s Medical Center, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenxi","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children\u2019s Medical Center, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children\u2019s Medical Center, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuemei","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children\u2019s Medical Center, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiqiong","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children\u2019s Medical Center, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shengfang","family":"Bao","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children\u2019s Medical Center, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children\u2019s Medical Center, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanliang","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children\u2019s Medical Center, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingying","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Shanghai Children\u2019s Medical Center, School of Medicine, Shanghai Jiao Tong University","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1007\/s11882-023-01071-4","article-title":"Chromosome 22q11.2 deletion (DiGeorge syndrome): immunologic features, diagnosis, and management","volume":"23","author":"Biggs","year":"2023","journal-title":"Curr Allergy Asthma Rep"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01418-y","article-title":"Clinical practice guidelines for the immunological management of chromosome 22q11.2 deletion syndrome and other defects in thymic 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