{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T03:22:46Z","timestamp":1787887366367,"version":"build-2784847793"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T00:00:00Z","timestamp":1663200000000},"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><jats:title>Objectives<\/jats:title><jats:p>Blau syndrome (BS) is a rare autoinflammatory disease characterized by arthritis, dermatitis, and granulomatous uveitis in early childhood. The study presents the clinical experience of patients with BS at a tertiary care centre in Chandigarh, North India.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Analysis of the clinical profile of patients of BS with <jats:italic>NOD2<\/jats:italic> gene mutations under follow-up was carried out.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Diagnosis of BS was genetically confirmed in 11 patients (10 children and one adult; six male and five female patients) from 10 families. The median age of onset of symptoms was 12 months (range, 4 months\u20134 years), while the age at diagnosis ranged from 2.3 to 26 years. The classic triad of arthritis, dermatitis, and uveitis was present in 6\/11 (54.5%) patients. The frequency of arthritis, dermatitis, and uveitis was 100%, 81.8%, and 72.7%, respectively. The median age at diagnosis of ocular symptoms was 4 years (range, 2\u201326 years). Family history was noted in six families. Renal involvement was observed in two children. All patients in our cohort had the R334W variant in <jats:italic>NOD2<\/jats:italic> gene. An asymptomatic carrier sibling with R334W mutation was identified in one family. Methotrexate was used as a first-line agent in all children. Adalimumab, which was commenced in five patients with uveitis, resulted in significant improvement in four patients. The total follow-up duration of the present cohort is 1,063.8 patient-months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The possibility of BS should always be considered in patients with arthritis and early ocular involvement. Uveitis is often progressive and refractory to currently available therapies. Systemic involvement appears to remain a significant cause of morbidity and mortality.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fimmu.2022.932919","type":"journal-article","created":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T11:40:27Z","timestamp":1663242027000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":24,"title":["Blau syndrome: Lessons learned in a tertiary care centre at Chandigarh, North India"],"prefix":"10.3389","volume":"13","author":[{"given":"Rajni","family":"Kumrah","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rakesh Kumar","family":"Pilania","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nitin Kumar","family":"Menia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Rawat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jyoti","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anju","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pandiarajan","family":"Vignesh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankur Kumar","family":"Jindal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rashmi","family":"Rikhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aniruddha","family":"Agarwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vishali","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Surjit","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepti","family":"Suri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,9,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1186\/1546-0096-12-33","article-title":"Blau syndrome, the prototypic auto-inflammatory granulomatous disease","volume":"12","author":"Wouters","year":"2014","journal-title":"Pediatr Rheumatol Online J"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1002\/art.22122","article-title":"Pediatric granulomatous arthritis: an international registry","volume":"54","author":"Ros\u00e9","year":"2006","journal-title":"Arthritis Rheum"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80394-2","article-title":"Familial granulomatous arthritis, iritis, and rash","volume":"107","author":"Blau","year":"1985","journal-title":"J Pediatr"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(85)90286-4","article-title":"Familial granulomatous synovitis, uveitis, and cranial neuropathies","volume":"78","author":"Jabs","year":"1985","journal-title":"Am J Med"},{"key":"B5","article-title":"Granulomatous nephritis associated with R334Q mutation in NOD2","volume":"34","author":"Meiorin","year":"2007","journal-title":"J Rheumatol"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1002\/art.10618","article-title":"CARD15 mutations in familial granulomatosis syndromes: a study of the original blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy","volume":"46","author":"Wang","year":"2002","journal-title":"Arthritis Rheum"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70286-0","article-title":"Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions","volume":"133","author":"Ting","year":"1998","journal-title":"J Pediatr"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1007\/s00296-019-04316-6","article-title":"A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with blau syndrome over 20 years and case-based review","volume":"41","author":"Jindal","year":"2021","journal-title":"Rheumatol Int"},{"key":"B9","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1038\/ng720","article-title":"CARD15 mutations in blau syndrome","volume":"29","author":"Miceli-Richard","year":"2001","journal-title":"Nat Genet"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2017-212515","article-title":"Paediatric Rheumatology International Trials Organisation (PRINTO) and the AIDs Delphi study participants. 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