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We report a case of a paediatric patient with MASP-2 deficiency with classical and atypical features associated with Crohn\u2019s, onychomycosis and severe cutaneous infections including TB. We also report the presence of a new mutation variant in MASP-2 reported in whole exome sequencing of our patient.<\/jats:p>","DOI":"10.1136\/bcr-2018-228986","type":"journal-article","created":{"date-parts":[[2019,8,5]],"date-time":"2019-08-05T06:15:12Z","timestamp":1564985712000},"page":"e228986","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Tuberculosis, onychomycosis and immune deficiency in complicated Crohn\u2019s disease"],"prefix":"10.1136","volume":"12","author":[{"given":"Rayan","family":"Hejazi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, National Guard Health Affairs, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Hasosah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Guard Health Affairs, Jeddah, Saudi Arabia"},{"name":"Department of Pediatric Gastroenterology, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center (KAIMRC), National Guard Health Affairs, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,8,4]]},"reference":[{"key":"2025082802331387000_12.8.e228986.1","doi-asserted-by":"publisher","DOI":"10.1002\/ibd.21493"},{"key":"2025082802331387000_12.8.e228986.2","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2008.06.081"},{"key":"2025082802331387000_12.8.e228986.3","doi-asserted-by":"crossref","first-page":"080","DOI":"10.1055\/s-0037-1609022","article-title":"Pediatric Crohn\u2019s Disease","volume":"31","author":"Von Allmen","year":"2018","journal-title":"Clinics in colon and rectal surgery"},{"key":"2025082802331387000_12.8.e228986.4","doi-asserted-by":"crossref","first-page":"2741","DOI":"10.3748\/wjg.v24.i25.2741","article-title":"Current global trends in the incidence of pediatric-onset inflammatory bowel disease","volume":"24","author":"S\u00fdkora","year":"2018","journal-title":"World J Gastroenterol"},{"key":"2025082802331387000_12.8.e228986.5","first-page":"1085","article-title":"Incidence of pediatric inflammatory bowel disease in Saudi Arabia: a multicenter national study","volume":"20","author":"El Mouzan","year":"2014","journal-title":"Inflamm Bowel Dis"},{"key":"2025082802331387000_12.8.e228986.6","doi-asserted-by":"publisher","DOI":"10.1093\/tropej\/fmi039"},{"key":"2025082802331387000_12.8.e228986.7","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v11.i46.7227"},{"key":"2025082802331387000_12.8.e228986.8","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1111\/j.1468-3083.2008.02588.x","article-title":"Onychomycosis in inflammatory bowel diseases","volume":"22","author":"Gaburri","year":"2008","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2025082802331387000_12.8.e228986.9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1439-0507.2005.01186.x"},{"key":"2025082802331387000_12.8.e228986.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.molimm.2007.06.005"},{"key":"2025082802331387000_12.8.e228986.11","doi-asserted-by":"publisher","DOI":"10.1007\/s00281-005-0006-z"},{"key":"2025082802331387000_12.8.e228986.12","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0910672106"},{"key":"2025082802331387000_12.8.e228986.13","doi-asserted-by":"crossref","first-page":"148","DOI":"10.4103\/1817-1737.114303","article-title":"Tuberculosis incidence trends in Saudi Arabia over 20 years: 1991-2010","volume":"8","author":"Al-Orainey","year":"2013","journal-title":"Ann Thorac Med"},{"key":"2025082802331387000_12.8.e228986.14","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1186\/s12879-015-0879-y","article-title":"Impact of MBL and MASP-2 gene polymorphism and its interaction on susceptibility to tuberculosis","volume":"15","author":"Chen","year":"2015","journal-title":"BMC Infect Dis"},{"key":"2025082802331387000_12.8.e228986.15","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gene.6364283"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-228986","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:33:22Z","timestamp":1756373602000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-228986"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8]]},"references-count":15,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2019,8,4]]},"published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1136\/bcr-2018-228986"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-228986","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2019,8]]}}}