{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T14:09:42Z","timestamp":1790172582098,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T00:00:00Z","timestamp":1766102400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T00:00:00Z","timestamp":1766102400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["DEN Open"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Loeys\u2010Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in\n                    <jats:italic>TGFBR1<\/jats:italic>\n                    or\n                    <jats:italic>TGFBR2<\/jats:italic>\n                    . It is characterized by vascular fragility, skeletal abnormalities, and predisposition to allergic and inflammatory conditions, including monogenic inflammatory bowel disease (IBD). We report a pediatric case of IBD with a\n                    <jats:italic>TGFBR2<\/jats:italic>\n                    variant, presenting active colonic inflammation and pseudopolyposis, treated with adalimumab.\n                  <\/jats:p>\n                  <jats:p>\n                    At age 7, the patient presented with abdominal pain and bloody stools. Upon referral, colonoscopy demonstrated mucosal fragility, prominent pseudopolyposis, and an anal fissure, accompanied by a skin tag was identified. Genetic analysis revealed a heterozygous\n                    <jats:italic>TGFBR2<\/jats:italic>\n                    c.1583G&gt;A (p.Arg528His) variant and heterozygous\n                    <jats:italic>MEFV<\/jats:italic>\n                    E148Q and P369S\u2010R408Q variants. Colchicine treatment for suspected familial Mediterranean fever\u2010associated enteritis had a limited effect. Adalimumab treatment was initiated, leading to endoscopic improvement, with resolution of anemia and inflammatory markers in the blood test. This report presents the clinical course and endoscopic features potentially specific to the\n                    <jats:italic>TGFBR2<\/jats:italic>\n                    c.1583G&gt;A variant, with reference to previously published cases.\n                  <\/jats:p>","DOI":"10.1002\/deo2.70266","type":"journal-article","created":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T17:32:04Z","timestamp":1766165524000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Adalimumab\u2010responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of\n                    <i>TGFBR2<\/i>\n                    Variant in Loeys\u2010Dietz Syndrome"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1506-7254","authenticated-orcid":false,"given":"Tomomitsu","family":"Sado","sequence":"first","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine  Nagano Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Ukai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine  Nagano Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shingo","family":"Kurasawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine  Nagano Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosuke","family":"Kono","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine University of Yamanashi  Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Hasuda","sequence":"additional","affiliation":[{"name":"Department of Surgery II Faculty of Medicine University of Yamanashi  Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai","family":"Iwaya","sequence":"additional","affiliation":[{"name":"Department of Pathology Shinshu University School of Medicine  Nagano Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takaya","family":"Nakane","sequence":"additional","affiliation":[{"name":"Center For Medical Genetics University of Yamanashi  Yamanashi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomomi","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Nagano Japan"},{"name":"Center For Medical Genetics Shinshu University Hospital  Nagano Japan"},{"name":"Division of Clinical Sequencing Shinshu University School of Medicine  Nagano Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Nagano Japan"},{"name":"Center For Medical Genetics Shinshu University Hospital  Nagano Japan"},{"name":"Division of Clinical Sequencing Shinshu University School of Medicine  Nagano Japan"},{"name":"Research Center for Supports to Advanced Science Shinshu University  Nagano Japan"},{"name":"BioBank Shinshu Shinshu University Hospital  Nagano Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shinshu University School of Medicine  Nagano Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,12,19]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.crohns.2014.01.013"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2022.05.065"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MIB.0000000000000872"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/PG9.0000000000000139"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(12)62060\u20103"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.2005.048124"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10165\u2010007\u20100003\u20102"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/RHU.0000000000001953"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/pharmaceutics15030969"}],"container-title":["DEN 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