{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T19:54:32Z","timestamp":1788292472651,"version":"build-2803163510"},"reference-count":123,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,2,26]],"date-time":"2022-02-26T00:00:00Z","timestamp":1645833600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Beh\u00e7et\u2019s disease (BD) is a polygenic condition with a complex immunopathogenetic background and challenging diagnostic and therapeutic concepts. Advances in genomic medicine have provided intriguing insights into disease pathogenesis over the last decade, especially into monogenic mimics of BD. Although a rare condition, paediatric BD should be considered an important differential diagnosis, especially in cases with similar phenotypes. Emerging reports of monogenic mimics have indicated the importance of genetic testing, particularly for those with early-onset, atypical features and familial aggregation. Treatment options ought to be evaluated in a multidisciplinary setting, given the complexity and diverse organ involvement. Owing to the rarity of the condition, there is a paucity of paediatric trials; thus, international collaboration is warranted to provide consensus recommendations for the management of children and young people. Herein, we summarise the current knowledge of the clinical presentation, immunopathogenetic associations and disease mechanisms in patients with paediatric BD and BD-related phenotypes, with particular emphasis on recently identified monogenic mimics.<\/jats:p>","DOI":"10.3390\/jcm11051278","type":"journal-article","created":{"date-parts":[[2022,2,27]],"date-time":"2022-02-27T20:47:17Z","timestamp":1645994837000},"page":"1278","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Paediatric Beh\u00e7et\u2019s Disease: A Comprehensive Review with an Emphasis on Monogenic Mimics"],"prefix":"10.3390","volume":"11","author":[{"given":"Ovgu","family":"Kul Cinar","sequence":"first","affiliation":[{"name":"Department of Paediatric Rheumatology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH, UK"},{"name":"Division of Medicine, National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, University College London, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micol","family":"Romano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Rheumatology, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON N6A 5W9, Canada"},{"name":"Canadian Behcet and Autoinflammatory Disease Center (CAN-BE-AID), University of Western Ontario, London, ON N6A 4V2, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5839-6939","authenticated-orcid":false,"given":"Ferhat","family":"Guzel","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratories, Department of Research and Development, Ant Biotechnology, Istanbul 34775, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul A.","family":"Brogan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Rheumatology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London WC1N 3JH, UK"},{"name":"Great Ormond Street Institute of Child Health, University College London, 30 Guildford Street, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4525-1789","authenticated-orcid":false,"given":"Erkan","family":"Demirkaya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Rheumatology, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON N6A 5W9, Canada"},{"name":"Canadian Behcet and Autoinflammatory Disease Center (CAN-BE-AID), University of Western Ontario, London, ON N6A 4V2, Canada"},{"name":"Department of Epidemiology and Biostatistics, Schulich School of Medicine & Dentistry, University of Western Ontario, London, ON N6A 5W9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,26]]},"reference":[{"key":"ref_1","first-page":"S2","article-title":"On relapsing, aphthous ulcers of the mouth, eye and genitalia caused by a virus. 1937","volume":"28","author":"Behcet","year":"2010","journal-title":"Clin. 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