{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:38:39Z","timestamp":1792787919772,"version":"4.5.0"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,11,19]],"date-time":"2007-11-19T00:00:00Z","timestamp":1195430400000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>In the current study our objective was to develop a murine model of human hyper\u2010IgD syndrome (HIDS) and severe mevalonic aciduria (MA), autoinflammatory disorders associated with mevalonate kinase deficiency (MKD). Deletion of one <jats:italic>Mvk<\/jats:italic> allele (<jats:italic>Mvk<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup>) yielded viable mice with significantly reduced liver <jats:italic>Mvk<\/jats:italic> enzyme activity; multiple matings failed to produce <jats:italic>Mvk<\/jats:italic><jats:sup>\u2212\/\u2212<\/jats:sup> mice. Cholesterol levels in tissues and blood, and isoprene end\u2010products (ubiquinone, dolichol) in tissues were normal in <jats:italic>Mvk<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup> mice; conversely, mevalonate concentrations were increased in spleen, heart, and kidney yet normal in brain and liver. While the trend was for higher IgA levels in <jats:italic>Mvk<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup> sera, IgD levels were significantly increased (9\u201312\u2010fold) in comparison to <jats:italic>Mvk<\/jats:italic><jats:sup>+\/+<\/jats:sup> littermates, in both young (&lt;15 weeks) and older (&gt;15 weeks) mice. <jats:italic>Mvk<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup> animals manifested increased serum TNF\u2010\u03b1 as compared to wild\u2010type littermates, but due to wide variation in levels between individual <jats:italic>Mvk<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup> mice the difference in means was not statistically significant. <jats:italic>Mvk<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup> mice represent the first animal model of HIDS, and should prove useful for examining pathophysiology associated with this disorder.<\/jats:p>","DOI":"10.1007\/s10545-007-0776-7","type":"journal-article","created":{"date-parts":[[2007,11,16]],"date-time":"2007-11-16T01:38:21Z","timestamp":1195177101000},"page":"888-895","source":"Crossref","is-referenced-by-count":39,"title":["Deletion of a single mevalonate kinase (<i>Mvk<\/i>) allele yields a murine model of hyper\u2010IgD syndrome"],"prefix":"10.1002","volume":"30","author":[{"given":"E. J.","family":"Hager","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Children's Hospital of Pittsburgh University of Pittsburgh School of Medicine Rangos Research Building, Room 2113, 3460 Fifth Ave. Pittsburgh PA 15213 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. M.","family":"Tse","sequence":"additional","affiliation":[{"name":"Division of Immunogenetics, Department of Pediatrics, Children's Hospital of Pittsburgh University of Pittsburgh School of Medicine Pittsburgh PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. D.","family":"Piganelli","sequence":"additional","affiliation":[{"name":"Division of Immunogenetics, Department of Pediatrics, Children's Hospital of Pittsburgh University of Pittsburgh School of Medicine Pittsburgh PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics Oregon Health &amp; Science University Portland OR USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Baetscher","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics Oregon Health &amp; Science University Portland OR USA"},{"name":"Department of Comparative Medicine Oregon Health &amp; Science University Portland OR USA"},{"name":"Genome Manipulation Facility, Harvard Stem Cell Institute and Department of Molecular and Cellular Biology Harvard University Cambridge MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. 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F.","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Heidelberg Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. M.","family":"Gibson","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Children's Hospital of Pittsburgh University of Pittsburgh School of Medicine Rangos Research Building, Room 2113, 3460 Fifth Ave. Pittsburgh PA 15213 USA"},{"name":"Department of Pathology, Biochemical Genetics\/Nutrition Laboratory University of Pittsburgh School of Medicine Pittsburgh PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,11,19]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199405000-00002"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/9696"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/eji.200636567"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441413"},{"issue":"1","key":"e_1_2_1_6_1","first-page":"50","article-title":"Early embryonic lethality associated with targeted disruption of the murine mevalonate kinase gene","volume":"29","author":"Gibson KM","year":"2006","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"e_1_2_1_7_1","first-page":"45","article-title":"Chronic inflammation and hyper IgD\/IgE in mice with targeted deletion of the mevalonate kinase. 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