{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T17:00:08Z","timestamp":1773248408098,"version":"3.50.1"},"reference-count":10,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,5,15]]},"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:p>Severe combined immunodeficiency (SCID) is an extremely rare disease caused by a disruption in the forkhead box N1 (<jats:italic>FOXN1<\/jats:italic>) gene, with an incidence of &lt;1 per 1 000 000 live births. We report a boy aged 4 months who presented with a history of fever for 3 weeks and enlarged lymph nodes. The fever was associated with dry cough and runny nose. On physical examination, we noted oral thrush, generalised lymphadenopathy, nail dystrophy and alopecia. Flow cytometry of lymph node biopsy showed high-grade B-cell lymphoma. In addition, Epstein-Barr virus (EBV) infection was documented by PCR. The diagnosis of SCID was made by genetic testing, which revealed a homozygous variant of the <jats:italic>FOXN1<\/jats:italic> gene. The variant was confirmed with Sanger sequencing. Management of EBV infection and lymphoma was initiated; unfortunately, the patient passed away on day 45 of hospitalisation.<\/jats:p>","DOI":"10.1136\/bcr-2018-227715","type":"journal-article","created":{"date-parts":[[2019,5,31]],"date-time":"2019-05-31T08:15:19Z","timestamp":1559290519000},"page":"e227715","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency"],"prefix":"10.1136","volume":"12","author":[{"given":"Rawia","family":"Albar","sequence":"first","affiliation":[{"name":"King Saud bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, Saudi Arabia"},{"name":"Pediatric Department, King Abdulaziz Medical City, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moaffaq","family":"Mahdi","sequence":"additional","affiliation":[{"name":"King Saud bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fawaz","family":"Alkeraithe","sequence":"additional","affiliation":[{"name":"King Saud bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid Nawaf","family":"Almufarriji","sequence":"additional","affiliation":[{"name":"King Saud bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,5,30]]},"reference":[{"key":"2025082707483061000_12.5.e227715.1","doi-asserted-by":"crossref","DOI":"10.1038\/18997","article-title":"Exposing the human nude phenotype","volume":"398","author":"Frank","year":"1999","journal-title":"Nature"},{"key":"2025082707483061000_12.5.e227715.2","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/s13023-016-0557-1","article-title":"FOXN1 deficient nude severe combined immunodeficiency","volume":"12","author":"Rota","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"2025082707483061000_12.5.e227715.3","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/j.gene.2017.06.033","article-title":"FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis","volume":"627","author":"Radha Rama Devi","year":"2017","journal-title":"Gene"},{"key":"2025082707483061000_12.5.e227715.4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961016)65:2<167::AID-AJMG17>3.0.CO;2-O"},{"key":"2025082707483061000_12.5.e227715.5","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-06-292490"},{"key":"2025082707483061000_12.5.e227715.6","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.clim.2014.08.005","article-title":"A novel mutation in FOXN1 resulting in SCID: a case report and literature review","volume":"155","author":"Chou","year":"2014","journal-title":"Clin Immunol"},{"key":"2025082707483061000_12.5.e227715.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2014.02.028"},{"key":"2025082707483061000_12.5.e227715.8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.00977.x"},{"key":"2025082707483061000_12.5.e227715.9","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0037042","article-title":"Human FOXN1-deficiency is associated with \u03b1\u03b2 double-negative and FoxP3+ T-cell expansions that are distinctly modulated upon thymic transplantation","volume":"7","author":"Albuquerque","year":"2012","journal-title":"PLoS One"},{"key":"2025082707483061000_12.5.e227715.10","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1007\/s10875-017-0445-z","article-title":"FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches","volume":"37","author":"Gallo","year":"2017","journal-title":"J Clin Immunol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-227715","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:48:40Z","timestamp":1756306120000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-227715"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2019,5,30]]},"published-print":{"date-parts":[[2019,5]]}},"alternative-id":["10.1136\/bcr-2018-227715"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-227715","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5]]}}}