{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T10:23:37Z","timestamp":1756463017320,"version":"3.44.0"},"reference-count":13,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2016,5,1]]},"abstract":"<jats:p>Hyperimmunoglobulinaemia D syndrome (HIDS) is an autosomal recessive, autoinflammatory disease that is characterised with intermittent febrile episodes, cervical lymphadenopathy, rashes, arthritis and gastrointestinal symptoms associated with synovial or serosal inflammation. HIDS is caused by mutations in the gene encoding mevalonate kinase enzyme. The febrile attacks usually start in early childhood and triggered by stress or vaccinations. We report a case of 16-month-old boy who had episodes of recurrent fever accompanied by maculopapular rash and lymphadenopathy. He was diagnosed as HIDS and he had heterozygote mutation of mevalonate kinase gene.<\/jats:p>","DOI":"10.1136\/bcr-2016-214941","type":"journal-article","created":{"date-parts":[[2016,5,17]],"date-time":"2016-05-17T10:23:03Z","timestamp":1463480583000},"page":"bcr2016214941","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Hyperimmunoglobulinaemia D syndrome: a rare cause of prolonged fever and treatment with anti-interleukin 1 agent"],"prefix":"10.1136","volume":"2016","author":[{"given":"Deniz","family":"Aygun","sequence":"first","affiliation":[{"name":"Department of Pediatric Infectious Diseases, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sezgin","family":"Sahin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rheumatology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haluk","family":"Cokugras","sequence":"additional","affiliation":[{"name":"Department of Pediatric Infectious Diseases, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ozgur","family":"Kasapcopur","sequence":"additional","affiliation":[{"name":"Department of Pediatric Rheumatology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2016,5,17]]},"reference":[{"key":"2025082803115926000_2016.may17_2.bcr2016214941.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(84)92505-4"},{"key":"2025082803115926000_2016.may17_2.bcr2016214941.2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-135-5-200109040-00010"},{"key":"2025082803115926000_2016.may17_2.bcr2016214941.3","doi-asserted-by":"publisher","DOI":"10.1007\/s10067-011-1932-x"},{"key":"2025082803115926000_2016.may17_2.bcr2016214941.4","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199405000-00002"},{"key":"2025082803115926000_2016.may17_2.bcr2016214941.5","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e318190cfb7"},{"key":"2025082803115926000_2016.may17_2.bcr2016214941.6","doi-asserted-by":"publisher","DOI":"10.1136\/ard.2006.068841"},{"key":"2025082803115926000_2016.may17_2.bcr2016214941.7","doi-asserted-by":"publisher","DOI":"10.1007\/s11926-010-0086-1"},{"key":"2025082803115926000_2016.may17_2.bcr2016214941.8","doi-asserted-by":"crossref","first-page":"3586","DOI":"10.1182\/blood.V85.12.3586.bloodjournal85123586","article-title":"Cytokine activation during attacks of hyperimmunoglobulinemia D and periodic fever syndrome","volume":"85","author":"Drenth","year":"1995","journal-title":"Blood"},{"key":"2025082803115926000_2016.may17_2.bcr2016214941.9","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-015-2505-9"},{"key":"2025082803115926000_2016.may17_2.bcr2016214941.10","doi-asserted-by":"crossref","unstructured":"Musters A , Tak PP , Baeten DL , et al . 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