{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T17:36:58Z","timestamp":1761154618563},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,6,3]],"date-time":"2004-06-03T00:00:00Z","timestamp":1086220800000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatism"],"published-print":{"date-parts":[[2004,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To describe biochemical findings and the spectrum of mevalonate kinase (<jats:italic>MVK<\/jats:italic>) gene mutations as well as an associated <jats:italic>TNFRSF1A<\/jats:italic> low\u2010penetrance variant in a series of patients with clinical features of the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The <jats:italic>MVK<\/jats:italic> gene was sequenced in 8 children and 1 adult (including 2 siblings) fulfilling the clinical criteria for HIDS. In addition, sequencing of exons 2, 3, 4, and 6 of the <jats:italic>TNFRSF1A<\/jats:italic> gene was performed in patients with only one or no <jats:italic>MVK<\/jats:italic> mutation. Mevalonate kinase (MK) enzyme activity in leukocytes and renal excretion of mevalonic acid were also measured.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mutations in the coding region of the <jats:italic>MVK<\/jats:italic> gene were detected in 6 patients, and the most common mutation was V377I. Among these patients were 2 novel mutations, both of which were located in exon 6. These novel mutations resulted in the substitution of tryptophan (TGG) by a stop codon (TGA) at amino acid position 188 (W188X) and in the exchange of valine (GTG) for alanine (GCG) at amino acid position 203 (V203A). In 1 patient, a combination of one <jats:italic>MVK<\/jats:italic> (V377I) mutation and one <jats:italic>TNFRSF1A<\/jats:italic> (R92Q) mutation was present. The patient's clinical phenotype resembled a mixture of variant\u2010type HIDS and tumor necrosis factor receptor\u2013associated periodic syndrome (TRAPS). Her IgD values varied between normal and slightly increased, and the MK activity was in the low\u2010normal range, while urinary mevalonate concentrations were always normal.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The genotype findings indicate that a relatively small number of genes may be involved in the clinical manifestation of HIDS, with low\u2010penetrance <jats:italic>TNFRSF1A<\/jats:italic> variants possibly influencing the HIDS phenotype or <jats:italic>MVK<\/jats:italic> mutations contributing to TRAPS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.20264","type":"journal-article","created":{"date-parts":[[2004,6,3]],"date-time":"2004-06-03T17:02:38Z","timestamp":1086282158000},"page":"1951-1958","source":"Crossref","is-referenced-by-count":40,"title":["Molecular analysis of the <i>MVK<\/i> and <i>TNFRSF1A<\/i> genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: A low\u2010penetrance <i>TNFRSF1A<\/i> variant in a heterozygous <i>MVK<\/i> carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa"],"prefix":"10.1002","volume":"50","author":[{"given":"Silvia","family":"Stojanov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Lohse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pia","family":"Lohse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florian","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen D.","family":"Renner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Zellerer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anja","family":"K\u00e9ry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoon S.","family":"Shin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorothea","family":"Haas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georg F.","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd H.","family":"Belohradsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,6,3]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199405000-00002"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s001120050112"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra010200"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/9696"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/9691"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200595"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.91.5.915"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.8.1523"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-135-5-200109040-00010"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/40.5.579"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1471-4914(02)02425-5"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/321976"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2002.02002.x"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800016"},{"key":"e_1_2_6_16_2","first-page":"267","volume-title":"Techniques in diagnostic human biomedical genetics","author":"Shin YS","year":"1990"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(91)90355-G"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg031"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.41.25449"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M011478200"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M200912200"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200614"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200933"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.10429"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.25.3115"}],"container-title":["Arthritis &amp; 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