{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:50:11Z","timestamp":1787017811745,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Rheumatology"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>\n                    Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (\n                    <jats:italic>MVK<\/jats:italic>\n                    ). In a proportion of patients, however, no\n                    <jats:italic>MVK<\/jats:italic>\n                    mutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl whose clinical picture had started before the end of the first year of life. The patient had consistently elevated IgD levels but no mutations were found after a full-length analysis of the\n                    <jats:italic>MVK<\/jats:italic>\n                    gene. The method of\n                    <jats:italic>MVK<\/jats:italic>\n                    mutational analysis is presented in details. Treatment with canakinumab in a final single dose of 4\u2009mg\/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patients\u2019 quality of life during a 12-month follow-up period. The drug has been well tolerated, and no side effects were observed.\n                  <\/jats:p>","DOI":"10.1155\/2013\/795027","type":"journal-article","created":{"date-parts":[[2013,4,16]],"date-time":"2013-04-16T17:10:13Z","timestamp":1366132213000},"page":"1-4","source":"Crossref","is-referenced-by-count":6,"title":["A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab"],"prefix":"10.1155","volume":"2013","author":[{"given":"Elena","family":"Tsitsami","sequence":"first","affiliation":[{"name":"Pediatric Rheumatology Unit, 1st Department of Pediatrics, Children's Hospital \u201cAghia Sophia\u201d, University of Athens, 115 27 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charis","family":"Papadopoulou","sequence":"additional","affiliation":[{"name":"Pediatric Rheumatology Unit, 1st Department of Pediatrics, Children's Hospital \u201cAghia Sophia\u201d, University of Athens, 115 27 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthaios","family":"Speletas","sequence":"additional","affiliation":[{"name":"Department of Immunology & Histocompatibility, School of Medicine, University of Thessaly, 411 10 Biopolis, Larissa, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.2.258"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-13"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1038\/9691"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1038\/9696"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(03)00212-9"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/kem200"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e318190cfb7"},{"issue":"6","key":"8","first-page":"763","volume":"29","year":"2006","journal-title":"Journal of Inherited Metabolic Disease"},{"issue":"10","key":"9","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1093\/rheumatology\/kes097","volume":"51","year":"2012","journal-title":"Rheumatology"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra010200"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-10-039578"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-03-144667"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1016\/j.molimm.2007.12.008"},{"issue":"12","key":"14","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1136\/ard.2011.152728","volume":"70","year":"2011","journal-title":"Annals of Rheumatic Diseases"}],"container-title":["Case Reports in Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crirh\/2013\/795027.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crirh\/2013\/795027.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crirh\/2013\/795027.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,21]],"date-time":"2017-06-21T07:27:07Z","timestamp":1498030027000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crirh\/2013\/795027\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":14,"alternative-id":["795027","795027"],"URL":"https:\/\/doi.org\/10.1155\/2013\/795027","relation":{},"ISSN":["2090-6889","2090-6897"],"issn-type":[{"value":"2090-6889","type":"print"},{"value":"2090-6897","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013]]}}}