{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T16:42:30Z","timestamp":1784133750585,"version":"3.55.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2004,11,10]],"date-time":"2004-11-10T00:00:00Z","timestamp":1100044800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2005,3]]},"DOI":"10.1038\/sj.ejhg.5201323","type":"journal-article","created":{"date-parts":[[2004,11,10]],"date-time":"2004-11-10T10:32:48Z","timestamp":1100082768000},"page":"314-320","source":"Crossref","is-referenced-by-count":65,"title":["MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever"],"prefix":"10.1038","volume":"13","author":[{"given":"Andrea","family":"D'Osualdo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Picco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Caroli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Gattorno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Giacchino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Fortini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizia","family":"Corona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Tommasini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Salvi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Specchia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Obici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Meini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Ricci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Seri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Ravazzolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Martini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Ceccherini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2004,11,10]]},"reference":[{"key":"BF5201323_CR1","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1542\/peds.111.2.258","volume":"111","author":"V Prietsch","year":"2003","unstructured":"Prietsch V, Mayatepek E, Krastel H et al: Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics 2003; 111: 258\u2013261.","journal-title":"Pediatrics"},{"key":"BF5201323_CR2","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1097\/00005792-199405000-00002","volume":"73","author":"JP Drenth","year":"1994","unstructured":"Drenth JP, Haagsma CJ, van der Meer JW, International Hyper-IgD Study Group: Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. Medicine 1994; 73: 133\u2013144.","journal-title":"Medicine"},{"key":"BF5201323_CR3","doi-asserted-by":"publisher","first-page":"1087","DOI":"10.1016\/S0140-6736(84)92505-4","volume":"1","author":"JW van der Meer","year":"1984","unstructured":"van der Meer JW, Vossen JM, Radl J et al: Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet 1984; 1: 1087\u20131090.","journal-title":"Lancet"},{"key":"BF5201323_CR4","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1128\/CDLI.8.1.58-61.2001","volume":"8","author":"IS Klasen","year":"2001","unstructured":"Klasen IS, Goertz JH, van der Wiel GA, Weemaes CM, van der Meer JW, Drenth JP : Hyper-immunoglobulin A in the hyperimmunoglobulinemia D syndrome. Clin Diagn Lab Immunol 2001; 8: 58\u201361.","journal-title":"Clin Diagn Lab Immunol"},{"key":"BF5201323_CR5","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1038\/9696","volume":"22","author":"JP Drenth","year":"1999","unstructured":"Drenth JP, Cuisset L, Grateau G et al: Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Nat Genet 1999; 22: 178\u2013181.","journal-title":"Nat Genet"},{"key":"BF5201323_CR6","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1038\/9691","volume":"22","author":"SM Houten","year":"1999","unstructured":"Houten SM, Kuis W, Duran M et al: Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999; 22: 175\u2013177.","journal-title":"Nat Genet"},{"key":"BF5201323_CR7","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1542\/peds.91.5.915","volume":"91","author":"GF Hoffmann","year":"1993","unstructured":"Hoffmann GF, Charpentier C, Mayatepek E et al: Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 1993; 91: 915\u2013921.","journal-title":"Pediatrics"},{"key":"BF5201323_CR8","doi-asserted-by":"publisher","first-page":"1118","DOI":"10.1007\/s00018-003-2296-4","volume":"60","author":"SM Houten","year":"2003","unstructured":"Houten SM, Frenkel J, Waterham HR : Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation. Cell Mol Life Sci 2003; 60: 1118\u20131134.","journal-title":"Cell Mol Life Sci"},{"key":"BF5201323_CR9","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1002\/humu.20080","volume":"24","author":"I Touitou","year":"2004","unstructured":"Touitou I, Lesage S, McDermott M et al: INFEVERS: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 2004; 24: 194\u2013198.","journal-title":"Hum Mutat"},{"key":"BF5201323_CR10","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1038\/sj.ejhg.5200614","volume":"9","author":"L Cuisset","year":"2001","unstructured":"Cuisset L, Drenth JP, Simon A et al: Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 2001; 9: 260\u2013266.","journal-title":"Eur J Hum Genet"},{"key":"BF5201323_CR11","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1038\/sj.ejhg.5200595","volume":"9","author":"SM Houten","year":"2001","unstructured":"Houten SM, Koster J, Romeijn GJ et al: Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Eur J Hum Genet 2001; 9: 253\u2013259.","journal-title":"Eur J Hum Genet"},{"key":"BF5201323_CR12","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1053\/berh.2002.0239","volume":"16","author":"J Frenkel","year":"2002","unstructured":"Frenkel J, Kuis W : Overt and occult rheumatic diseases: the child with chronic fever. Best Pract Res Clin Rheumatol 2002; 16: 443\u2013469.","journal-title":"Best Pract Res Clin Rheumatol"},{"key":"BF5201323_CR13","doi-asserted-by":"publisher","first-page":"196","DOI":"10.1038\/sj.ejhg.5200933","volume":"11","author":"SM Houten","year":"2003","unstructured":"Houten SM, van Woerden CS, Wijburg FA, Wandres RJ, Waterham HR : Carrier frequency of the V377I (1129G&gt;A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet 2003; 11: 196\u2013200.","journal-title":"Eur J Hum Genet"},{"key":"BF5201323_CR14","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/S0022-3476(03)00212-9","volume":"143","author":"FT Saulsbury","year":"2003","unstructured":"Saulsbury FT : Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) in a child with normal serum IgD, but increased serum IgA concentration. J Pediatr 2003; 143: 127\u2013129.","journal-title":"J Pediatr"},{"key":"BF5201323_CR15","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1023\/A:1010525206818","volume":"24","author":"M Di Rocco","year":"2001","unstructured":"Di Rocco M, Caruso U, Waterham HR, Picco P, Loy A, Wanders RJ : Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D. J Inherit Metab Dis 2001; 24: 411\u2013412.","journal-title":"J Inherit Metab Dis"},{"key":"BF5201323_CR16","first-page":"904","volume":"60","author":"P Picco","year":"2001","unstructured":"Picco P, Gattorno M, Di Rocco M, Buoncompagni A : Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome. Ann Rheum Dis 2001; 60: 904.","journal-title":"Ann Rheum Dis"},{"key":"BF5201323_CR17","doi-asserted-by":"publisher","first-page":"2966","DOI":"10.1002\/art.20490","volume":"50","author":"L Obici","year":"2004","unstructured":"Obici L, Manno C, Onetti Muda A et al: First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum 2004; 50: 2966\u20132969.","journal-title":"Arthritis Rheum"},{"key":"BF5201323_CR18","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1007\/BF02238553","volume":"15","author":"P Ostuni","year":"1996","unstructured":"Ostuni P, Vertolli U, Marson P : Atypical hypergammaglobulinaemia D syndrome with amyloidosis: an overlap with familial Mediterranean fever? Clin Rheumatol 1996; 15: 610\u2013612.","journal-title":"Clin Rheumatol"},{"key":"BF5201323_CR19","doi-asserted-by":"publisher","first-page":"1951","DOI":"10.1002\/art.20264","volume":"50","author":"S Stojanov","year":"2004","unstructured":"Stojanov S, Lohse P, Lohse P et al: Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Arthritis Rheum 2004; 50: 1951\u20131958.","journal-title":"Arthritis Rheum"},{"key":"BF5201323_CR20","doi-asserted-by":"publisher","first-page":"1523","DOI":"10.1093\/hmg\/8.8.1523","volume":"8","author":"SM Houten","year":"1999","unstructured":"Houten SM, Romeijn GJ, Koster J et al: Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. Hum Mol Genet 1999; 8: 1523\u20131528.","journal-title":"Hum Mol Genet"},{"key":"BF5201323_CR21","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/S0002-9343(02)01429-8","volume":"114","author":"A Simon","year":"2003","unstructured":"Simon A, Mariman EC, van der Meer JW, Drenth JP : A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome. Am J Med 2003; 114: 148\u2013152.","journal-title":"Am J Med"},{"key":"BF5201323_CR22","doi-asserted-by":"publisher","first-page":"F90","DOI":"10.1136\/fn.89.1.F90","volume":"89","author":"P Raupp","year":"2004","unstructured":"Raupp P, Varady E, Duran M, Wanders RJ, Waterham HR, Houten SM : Novel genotype of mevalonic aciduria with fatalities in premature siblings. Arch Dis Child Fetal Neonatal 2004; 89: F90\u2013F91.","journal-title":"Arch Dis Child Fetal Neonatal"},{"key":"BF5201323_CR23","doi-asserted-by":"publisher","first-page":"18134","DOI":"10.1074\/jbc.M200912200","volume":"277","author":"Z Fu","year":"2002","unstructured":"Fu Z, Fu Z, Wang M, Potter D, Miziorko HM, Kim JJ : The structure of a binary complex between a mammalian mevalonate kinase and ATP: insights into the reaction mechanism and human inherited disease. J Biol Chem 2002; 277: 18134\u201318142.","journal-title":"J Biol Chem"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201323.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201323","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201323.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:32:50Z","timestamp":1684373570000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11,10]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["BF5201323"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201323","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,11,10]]}}}