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Canakinumab for the treatment of hyperimmunoglobulin D syndrome.
Sánchez-Manubens J, Iglesias E, Anton J. Sánchez-Manubens J, et al. Expert Rev Clin Immunol. 2019 Mar;15(3):215-220. doi: 10.1080/1744666X.2019.1571410. Epub 2019 Jan 26. Expert Rev Clin Immunol. 2019. PMID: 30652926 Review.
Mevalonate Kinase Deficiency (MKD) is a rare monogenic autoinflammatory disorder (AID) with autosomal recessive inheritance caused by mutations in the MVK gene. It includes hyperimmunoglobulinemia D syndrome (HIDS) and mevalonic aciduria (a severe form). Patients ha …
Mevalonate Kinase Deficiency (MKD) is a rare monogenic autoinflammatory disorder (AID) with autosomal recessive inheritance caused by mutati …
Current advances in the understanding and treatment of mevalonate kinase deficiency.
Esposito S, Ascolese B, Senatore L, Bosis S, Verrecchia E, Cantarini L, Rigante D. Esposito S, et al. Int J Immunopathol Pharmacol. 2014 Oct-Dec;27(4):491-8. doi: 10.1177/039463201402700404. Int J Immunopathol Pharmacol. 2014. PMID: 25572728 Free article. Review.
Complete impairment results in the severe metabolic disease, mevalonic aciduria, while a partial deficiency results in a broad spectrum of clinical presentation, including HIDS. ...Therefore, further studies are needed to understand the pathogenesis of MKD and ident …
Complete impairment results in the severe metabolic disease, mevalonic aciduria, while a partial deficiency results in a broad …
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection.
Hoffmann GF, Sweetman L, Bremer HJ, Hunneman DH, Hyánek J, Kozich V, Lehnert W, Nyhan WL, Speidel I, Trefz FK, et al. Hoffmann GF, et al. Clin Chim Acta. 1991 May 15;198(3):209-27. doi: 10.1016/0009-8981(91)90355-g. Clin Chim Acta. 1991. PMID: 1653652
A stable isotope dilution assay using D3-mevalonic acid was developed and applied to the study of mevalonic aciduria. ...The analysis of amniotic fluids of two pregnancies at risk for mevalonic aciduria showed a 3277-fold elevation as compared t …
A stable isotope dilution assay using D3-mevalonic acid was developed and applied to the study of mevalonic aciduria. . …
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.
Mandey SH, Schneiders MS, Koster J, Waterham HR. Mandey SH, et al. Hum Mutat. 2006 Aug;27(8):796-802. doi: 10.1002/humu.20361. Hum Mutat. 2006. PMID: 16835861
Depending on the clinical severity, MKD may present as hyper-IgD and periodic fever syndrome (HIDS) or the more severe mevalonic aciduria (MA). We analyzed the MVK gene in 57 patients with MKD and found 39 different mutations including 15 novel mutations, expanding …
Depending on the clinical severity, MKD may present as hyper-IgD and periodic fever syndrome (HIDS) or the more severe mevalonic a …
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.
Hoffmann GF, Brendel SU, Scharfschwerdt SR, Shin YS, Speidel IM, Gibson KM. Hoffmann GF, et al. J Inherit Metab Dis. 1992;15(5):738-46. doi: 10.1007/BF01800016. J Inherit Metab Dis. 1992. PMID: 1331607
Mevalonic aciduria due to mevalonate kinase deficiency, an inherited defect of cholesterol biosynthesis, has presented with clinical variability in 10 patients from 7 families. ...
Mevalonic aciduria due to mevalonate kinase deficiency, an inherited defect of cholesterol biosynthesis, has presented with cl …