{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T15:23:45Z","timestamp":1783351425143,"version":"3.54.6"},"reference-count":8,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,3,24]]},"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:p>Hyperimmunoglobulinaemia D syndrome (HIDS) is a rare autosomal recessive disorder caused by mutations in the mevalonate kinase (MVK) gene, located on chromosome 12. The most common mutation identified in MVK gene so far is V377I. Compound heterozygotes that include this variant may exhibit a more severe phenotype of the disease and homozygotes are rarely found in clinical practice probably they express a milder phenotype. HIDS is a chronic autoinflammatory disease characterised by recurrent febrile episodes, associated with lymphadenopathies, abdominal pain, rash and arthritis. These flares can be triggered by vaccination, minor trauma, surgery and stress.<\/jats:p>\n               <jats:p>We report a case of a 2-year-old girl who had recurrent attacks of fever associated with cervical lymphadenopathy, macular erythematous skin rash, abdominal pain and aphthous ulcers in the mouth. The patient was found to excrete elevated amounts of urinary mevalonic acid and a homozygous V337I mutation in the MVK gene was identified.<\/jats:p>","DOI":"10.1136\/bcr-2022-249135","type":"journal-article","created":{"date-parts":[[2022,10,24]],"date-time":"2022-10-24T03:59:55Z","timestamp":1666583995000},"page":"e249135","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Homozygous V377I mutation causing mevalonate kinase"],"prefix":"10.1136","volume":"15","author":[{"given":"Teresa","family":"Brito","sequence":"first","affiliation":[{"name":"Pediatrics Department, Hospital de S\u00e3o Bernardo, Centro Hospitalar de Set\u00fabal, EPE, Setubal, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7899-8243","authenticated-orcid":false,"given":"Denise","family":"Banganho","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Hospital de S\u00e3o Bernardo, Centro Hospitalar de Set\u00fabal, EPE, Setubal, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Pedrosa","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Hospital de S\u00e3o Bernardo, Centro Hospitalar de Set\u00fabal, EPE, Setubal, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o","family":"Farela Neves","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiencies Unit, Hospital Dona Estef\u00e2nia, Centro Hospitalar Universit\u00e1rio de Lisboa Central, EPE, Setubal, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,4,6]]},"reference":[{"key":"2025082803055313000_15.4.e249135.1","unstructured":"Allen CH . \u201cFever without a source in children 3 to 36 months of age: Evaluation and management.\u201d Uptodate, 2020. Available: https:\/\/www.uptodate.com\/contents\/fever-without-a-source-in-children-3-to-36-months-of-age-evaluation-and-management?search=occult%20bacteremia&source=search_result&selectedTitle=1~10&usage_type=default&display_rank=1 [Accessed 19 May 2020]."},{"key":"2025082803055313000_15.4.e249135.2","unstructured":"Nigrovic PE . \u201cThe autoinflammatory diseases: An overview.\u201d Uptodate, 2020. Available: https:\/\/www.uptodate.com\/contents\/the-autoinflammatory-diseases-an-overview?search=Autoinflammatory%20syndromes&source=search_result&selectedTitle=1~150&usage_type=default&display_rank=1#H1292331064 [Accessed 06 Nov 2022]."},{"key":"2025082803055313000_15.4.e249135.3","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200933"},{"key":"2025082803055313000_15.4.e249135.4","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2016-214941"},{"key":"2025082803055313000_15.4.e249135.5","doi-asserted-by":"publisher","DOI":"10.1136\/rmdopen-2015-000196"},{"key":"2025082803055313000_15.4.e249135.6","unstructured":"Padeh YC , Rubinstein A . \u201cHyperimmunoglobulin D syndrome: Clinical manifestations and diagnosis\u201d. Uptodate, 2020. Available: https:\/\/www.uptodate.com\/contents\/hyperimmunoglobulin-d-syndrome-clinical-manifestations-and-diagnosis?search=hyperimmunoglobulin%20d&source=search_result&selectedTitle=1~28&usage_type=default&display_rank=1#references [Accessed 22 Jun 2020]."},{"key":"2025082803055313000_15.4.e249135.7","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2020.01150","article-title":"Management of mevalonate kinase deficiency: a pediatric perspective","volume":"11","author":"Jeyaratnam","year":"2020","journal-title":"Front Immunol"},{"key":"2025082803055313000_15.4.e249135.8","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-3344"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-249135","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:05:59Z","timestamp":1756375559000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-249135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,4,6]]},"published-print":{"date-parts":[[2022,4]]}},"alternative-id":["10.1136\/bcr-2022-249135"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-249135","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4]]}}}