{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:37:28Z","timestamp":1787071048071,"version":"build-2736575974"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report a rare case of hyperimmunoglobulinemia D syndrome (HIDS) in a young man who was initially diagnosed with familial Mediterranean fever, hidradenitis suppurativa, and, eventually, with Crohn\u2019s disease. The final diagnosis of HIDS was based on whole-exome sequencing. The unique concurrence of these three conditions has not been reported previously. The multiple diagnoses and overlapping presentations of these conditions should raise awareness about alternative diagnoses that mimic inflammatory and autoimmune conditions, including HIDS, a rare but clinically relevant condition. Exploring patients\u2019 family histories to understand the genetic contribution to HIDS is also important. This is evidenced by the fact that whole-exome sequencing for our patient was performed because the patient\u2019s brother was diagnosed with HIDS, and the sequencing led to the final diagnosis.<\/jats:p>","DOI":"10.4103\/sjmms.sjmms_464_24","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T00:02:12Z","timestamp":1745280132000},"page":"149-152","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Hyperimmunoglobulinemia D Syndrome Masquerading as Familial Mediterranean Fever, Hidradenitis Suppurativa, and Crohn\u2019s Disease: A Case Report"],"prefix":"10.4103","volume":"13","author":[{"given":"Mohamed","family":"Juraij","sequence":"first","affiliation":[{"name":"Department of Medicine, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farah","family":"Barakat","sequence":"additional","affiliation":[{"name":"Department of Medicine, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zainab","family":"Ifthikar","sequence":"additional","affiliation":[{"name":"Department of Medicine, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fahad","family":"Alsohaibani","sequence":"additional","affiliation":[{"name":"Department of Medicine, Section of Gastroenterology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,4,21]]},"reference":[{"key":"R1-20250422","doi-asserted-by":"crossref","first-page":"bcr2016214941","DOI":"10.1136\/bcr-2016-214941","article-title":"Hyperimmunoglobulinaemia D syndrome:A rare cause of prolonged fever and treatment with anti-interleukin 1 agent","volume":"2016","author":"Aygun","year":"2016","journal-title":"BMJ Case Rep"},{"key":"R2-20250422","doi-asserted-by":"crossref","first-page":"883811","DOI":"10.3389\/fimmu.2022.883811","article-title":"Case report:Comorbid hyper-IgD syndrome and hidradenitis suppurativa \u2013A new syndromic form of HS?A report of two cases","volume":"13","author":"Guillem","year":"2022","journal-title":"Front Immunol"},{"key":"R3-20250422","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1159\/000518825","article-title":"An atypical presentation of mevalonate kinase deficiency in response to colchicine treatment","volume":"13","author":"Ko\u00e7Yeked\u00fcz","year":"2022","journal-title":"Mol Syndromol"},{"key":"R4-20250422","doi-asserted-by":"crossref","first-page":"257","DOI":"10.4103\/cjp.cjp_67_21","article-title":"Hidradenitis suppurativa:Disease pathophysiology and sex hormones","volume":"64","author":"Chu","year":"2021","journal-title":"Chin J Physiol"},{"key":"R5-20250422","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1080\/00365520500327743","article-title":"Diagnostic challenge of hyper-IgD syndrome in four children with inflammatory gastrointestinal complaints","volume":"41","author":"Oretti","year":"2006","journal-title":"Scand J Gastroenterol"},{"key":"R6-20250422","doi-asserted-by":"crossref","first-page":"619257","DOI":"10.3389\/fimmu.2020.619257","article-title":"IL-1 inhibitors in the treatment of monogenic periodic fever syndromes:From the past to the future perspectives","volume":"11","author":"Malcova","year":"2020","journal-title":"Front Immunol"},{"key":"R7-20250422","doi-asserted-by":"crossref","first-page":"1908","DOI":"10.1056\/NEJMoa1706314","article-title":"Canakinumab for the treatment of autoinflammatory recurrent fever syndromes","volume":"378","author":"De Benedetti","year":"2018","journal-title":"N Engl J Med"},{"key":"R8-20250422","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/s13075-019-1843-9","article-title":"Efficacy of canakinumab as first-line biologic agent in adult-onset still's disease","volume":"21","author":"Cavalli","year":"2019","journal-title":"Arthritis Res Ther"}],"container-title":["Saudi Journal of Medicine &amp; 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