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Year Number of Results
1986 2
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The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist.
Romano M, Arici ZS, Piskin D, Alehashemi S, Aletaha D, Barron KS, Benseler S, Berard R, Broderick L, Dedeoglu F, Diebold M, Durrant KL, Ferguson P, Foell D, Hausmann J, Jones OY, Kastner DL, Lachmann HJ, Laxer RM, Rivera D, Ruperto N, Simon A, Twilt M, Frenkel J, Hoffman H, de Jesus AA, Kuemmerle-Deschner JB, Ozen S, Gattorno M, Goldbach-Mansky R, Demirkaya E. Romano M, et al. Ann Rheum Dis. 2022 Jul;81(7):907-921. doi: 10.1136/annrheumdis-2021-221801. Epub 2022 May 27. Ann Rheum Dis. 2022. PMID: 35623638
BACKGROUND: The interleukin-1 (IL-1) mediated systemic autoinflammatory diseases, including the cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD) and def …
BACKGROUND: The interleukin-1 (IL-1) mediated systemic autoinflammatory diseases, including the cryopyrin-associated periodic syndromes (CAP …
[Mevalonate kinase deficiency].
Galeotti C. Galeotti C. Rev Prat. 2023 Oct;73(8):850-854. Rev Prat. 2023. PMID: 38354005 French.
MEVALONATE KINASE DEFICIENCY. Mevalonate kinase deficiency is a rare, autosomal recessive, auto- inflammatory disease, linked to mutations in the gene MVK, resulting in the activation of pyrin inflammasome and hypersecretion of interleuki …
MEVALONATE KINASE DEFICIENCY. Mevalonate kinase deficiency is a rare, autosomal recessive, auto- i …
Neurological manifestations in mevalonate kinase deficiency: A systematic review.
Elhani I, Hentgen V, Grateau G, Georgin-Lavialle S. Elhani I, et al. Mol Genet Metab. 2022 Jun;136(2):85-93. doi: 10.1016/j.ymgme.2022.04.006. Epub 2022 Apr 30. Mol Genet Metab. 2022. PMID: 35525811 Review.
INTRODUCTION: Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory disease. ...
INTRODUCTION: Mevalonate kinase deficiency (MKD) is a monogenic auto-inflammatory disease. ...
Mevalonate kinase deficiency: current perspectives.
Favier LA, Schulert GS. Favier LA, et al. Appl Clin Genet. 2016 Jul 20;9:101-10. doi: 10.2147/TACG.S93933. eCollection 2016. Appl Clin Genet. 2016. PMID: 27499643 Free PMC article. Review.
Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. ...Me …
Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestatio …
Management of Mevalonate Kinase Deficiency: A Pediatric Perspective.
Jeyaratnam J, Frenkel J. Jeyaratnam J, et al. Front Immunol. 2020 Jun 5;11:1150. doi: 10.3389/fimmu.2020.01150. eCollection 2020. Front Immunol. 2020. PMID: 32582214 Free PMC article. Review.
Background: Mevalonate kinase deficiency (MKD) is an inborn error of metabolism leading to a syndrome characterized by recurrent inflammation. ...Conclusion: Canakinumab is the only evidence-based treatment for mevalonate kinase deficiency …
Background: Mevalonate kinase deficiency (MKD) is an inborn error of metabolism leading to a syndrome characterized by …
Classification criteria for autoinflammatory recurrent fevers.
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO). Gattorno M, et al. Ann Rheum Dis. 2019 Aug;78(8):1025-1032. doi: 10.1136/annrheumdis-2019-215048. Epub 2019 Apr 24. Ann Rheum Dis. 2019. PMID: 31018962 Review.
BACKGROUND: Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean fever (FMF), tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD) …
BACKGROUND: Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean feve …
Mevalonate kinase deficiency, a metabolic autoinflammatory disease.
van der Burgh R, Ter Haar NM, Boes ML, Frenkel J. van der Burgh R, et al. Clin Immunol. 2013 Jun;147(3):197-206. doi: 10.1016/j.clim.2012.09.011. Epub 2012 Oct 4. Clin Immunol. 2013. PMID: 23110805 Review.
Mevalonate kinase deficiency is a rare autosomal recessive inborn error of metabolism with an autoinflammatory phenotype. ...Mutations in both copies of the MVK-gene lead to a block in the mevalonate pathway. Interleukin-1beta mediates the inflammatory …
Mevalonate kinase deficiency is a rare autosomal recessive inborn error of metabolism with an autoinflammatory phenotyp …
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?
Mulders-Manders CM, Simon A. Mulders-Manders CM, et al. Semin Immunopathol. 2015 Jul;37(4):371-6. doi: 10.1007/s00281-015-0492-6. Epub 2015 May 20. Semin Immunopathol. 2015. PMID: 25990874 Free PMC article. Review.
Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. ...
Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the …
Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency.
Politiek FA, Waterham HR. Politiek FA, et al. Front Immunol. 2021 Sep 3;12:724991. doi: 10.3389/fimmu.2021.724991. eCollection 2021. Front Immunol. 2021. PMID: 34539662 Free PMC article. Review.
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder characterized by life-long recurring episodes of fever and inflammation, often without clear cause. MKD is caused by bi-allelic pathogenic variants in the MVK gene, resulting in a de …
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder characterized by life-long recurring episo …
512 results

Searches related to "mevalonate kinase deficiency"