{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T13:45:33Z","timestamp":1791812733205,"version":"4.3.4"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"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>Objectives<\/jats:title>\n                    <jats:p>The aim of this study was to characterize the genetic basis of Beh\u00e7et\u2019s disease (BD) and mimics in a pediatric cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively studied 34 patients of pediatric BD and mimics who underwent whole-exome sequencing (WES) in our center from 2020 to 2025. Clinical characteristics and laboratory parameters of the patients with or without genetically defined systemic autoinflammatory diseases (SAIDs) were compared.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      WES identified 10 probands with genetically defined SAID (the SAID+ group). Nine probands possessed pathogenic or likely pathogenic germline variants in\n                      <jats:italic>RELA<\/jats:italic>\n                      ,\n                      <jats:italic>TNFAIP3<\/jats:italic>\n                      (encoding A20), or\n                      <jats:italic>GATA2<\/jats:italic>\n                      . One proband was found to have trisomy 8. Five of the SAID+ probands exhibited parentally inherited variants, while the remaining four probands possessed\n                      <jats:italic>de novo<\/jats:italic>\n                      variants. Compared to pediatric BD patients without genetically determined SAID (the ped-BD group,\n                      <jats:italic>n<\/jats:italic>\n                      = 24), the SAID+ group exhibited earlier disease onset and greater prevalence of recurrent fever episodes, intestinal involvement, and hematologic abnormalities. Laboratory studies revealed higher levels of inflammatory markers and serum cytokines including IL-1\u03b2, IL-2, IL-10, and TNF\u03b1 in the SAID+ group. Corticosteroid treatment was commonly utilized in all patients, while the use of biologic DMARDs was more common in the SAID+ group.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Pediatric patients with autoinflammatory diseases mimicking BD have heightened systemic inflammation and more severe organ involvement that necessitate intensified immunosuppressive regimens. Genetic evaluation should be considered for BD cases with early disease onset, recurrent fever, enteritis, intestinal ulcers, or hematologic abnormalities.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fimmu.2026.1897406","type":"journal-article","created":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T05:36:55Z","timestamp":1787031415000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetically defined systemic autoinflammatory diseases in pediatric patients with Beh\u00e7et\u2019s disease"],"prefix":"10.3389","volume":"17","author":[{"given":"Shaoling","family":"Zheng","sequence":"first","affiliation":[{"name":"Department of Rheumatology and Immunology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University","place":["Guangzhou, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pui Y","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Immunology, Boston Children\u2019s Hospital, Harvard Medical School","place":["Boston, MA, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Zhou","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Common Mechanism Research for Major Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Han","sequence":"additional","affiliation":[{"name":"Liangzhu Laboratory, Zhejiang University","place":["Hangzhou, Zhejiang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuechan","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University","place":["Guangzhou, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukai","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University","place":["Guangzhou, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiajun","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University","place":["Guangzhou, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University","place":["Guangzhou, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolin","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, The Affiliated Guangdong Second Provincial General Hospital of Jinan University","place":["Guangzhou, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianhua","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Hematology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University","place":["Guangzhou, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiwu","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University","place":["Guangzhou, Guangdong, 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