{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:57:19Z","timestamp":1791219439502,"version":"4.1.0"},"reference-count":13,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,9,22]]},"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:p>Blau syndrome is a rare granulomatous autoinflammatory disease caused by NOD2 mutations and characterised by dermatitis, arthritis and uveitis. We report a middle childhood boy initially diagnosed with oligoarticular juvenile idiopathic arthritis (JIA) because arthritis was the predominant early manifestation. He had papular skin lesions in infancy and periarticular swelling and tenosynovial cysts, later developed persistent arthritis and recurrent fever. Genetic testing identified a heterozygous NOD2 variant (c.1001G&gt;A, p.Arg334Gln [R334Q]), confirming Blau syndrome. Despite ongoing methotrexate and adalimumab therapy, routine ophthalmic examination revealed unilateral anterior uveitis with iris nodules. Fundus examination showed bilateral multifocal chorioretinal lesions, and fluorescein angiography demonstrated retinal vasculitis. Ocular inflammation became quiescent after topical corticosteroid treatment and weight-based escalation of adalimumab. This case highlights that Blau syndrome may masquerade as JIA and that regular ophthalmic surveillance remains essential even during biologic therapy.<\/jats:p>","DOI":"10.1136\/bcr-2026-275641","type":"journal-article","created":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:10:25Z","timestamp":1791216625000},"page":"e275641","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Uveitis despite adalimumab therapy in Blau syndrome"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-8338-8432","authenticated-orcid":false,"given":"Takeshi","family":"Takasaki","sequence":"first","affiliation":[{"name":"Ophthalmology, Jichi Medical University, Shimotsuke, Tochigi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meri","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Ophthalmology, Jichi Medical University, Shimotsuke, Tochigi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuta","family":"Kawahara","sequence":"additional","affiliation":[{"name":"Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1132-6148","authenticated-orcid":false,"given":"Toshikatsu","family":"Kaburaki","sequence":"additional","affiliation":[{"name":"Ophthalmology, Jichi Medical University, Shimotsuke, Tochigi, Japan"},{"name":"Ophthalmology, Jichi Medical University Saitama Medical Center, Saitama, Saitama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,10,5]]},"reference":[{"key":"2026100509101700000_19.10.e275641.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80394-2"},{"key":"2026100509101700000_19.10.e275641.2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-07-2972"},{"key":"2026100509101700000_19.10.e275641.3","unstructured":"Japan Intractable Diseases Information Center . Blau syndrome (designated intractable disease 110) [in Japanese]. Available: https:\/\/www.nanbyou.or.jp\/entry\/3826 [Accessed 18 Mar 2026]."},{"key":"2026100509101700000_19.10.e275641.4","doi-asserted-by":"crossref","first-page":"123","DOI":"10.2177\/jsci.30.123","article-title":"Clinical features of Blau syndrome and early-onset sarcoidosis and associating CARD15\/NOD2 gene mutations [in Japanese]","volume":"30","author":"Kanazawa","year":"2007","journal-title":"Jpn J Clin Immunol"},{"key":"2026100509101700000_19.10.e275641.5","article-title":"A case of blau syndrome","volume":"2014","author":"Chauhan","year":"2014","journal-title":"Case Rep Rheumatol"},{"key":"2026100509101700000_19.10.e275641.6","doi-asserted-by":"crossref","first-page":"4619","DOI":"10.1097\/MS9.0000000000001090","article-title":"A diagnostic challenge: misdiagnosing Blau syndrome as juvenile dermatomyositis in a pediatric patient","volume":"85","author":"Deek","year":"2023","journal-title":"Ann Med Surg (Lond)"},{"key":"2026100509101700000_19.10.e275641.7","doi-asserted-by":"crossref","first-page":"SI260","DOI":"10.1093\/rheumatology\/kead596","article-title":"Molecular diagnostic yield for Blau syndrome in previously diagnosed juvenile idiopathic arthritis with uveitis or cutaneous lesions","volume":"63","author":"Zhong","year":"2024","journal-title":"Rheumatology (Oxford)"},{"key":"2026100509101700000_19.10.e275641.8","unstructured":"Japan Pediatric Rheumatology Association . Guidelines for diagnosis and treatment of autoinflammatory diseases 2017 [in Japanese]. Tokyo: Shindan-to-Chiryo-sha; 2017."},{"key":"2026100509101700000_19.10.e275641.9","unstructured":"Japan College of Rheumatology Pediatric Rheumatology Subcommittee. Initial management guide for pediatric non-infectious uveitis 2020 [in Japanese]. Tokyo: Yodosha; 2020."},{"key":"2026100509101700000_19.10.e275641.10","first-page":"563","article-title":"A case of early-onset sarcoidosis and Blau syndrome [in Japanese]","volume":"67","author":"Yamanaka","year":"2013","journal-title":"Jpn J Clin Ophthalmol"},{"key":"2026100509101700000_19.10.e275641.11","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2020-217320"},{"key":"2026100509101700000_19.10.e275641.12","doi-asserted-by":"crossref","DOI":"10.1186\/s12887-025-05584-x","article-title":"Long-term prognosis of 47 pediatric patients with Blau syndrome in China","volume":"25","author":"Shi","year":"2025","journal-title":"BMC Pediatr"},{"key":"2026100509101700000_19.10.e275641.13","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/j.ophtha.2022.03.014","article-title":"Genetic and Clinical Features of Blau Syndrome among Chinese Patients with Uveitis","volume":"129","author":"Zhong","year":"2022","journal-title":"Ophthalmology"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-275641","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:10:27Z","timestamp":1791216627000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-275641"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":13,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2026,10,5]]},"published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1136\/bcr-2026-275641"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-275641","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10]]}}}