Results 131 to 140 of about 28,306 (175)

Hyper-IgD syndrome or mevalonate kinase deficiency

Current Opinion in Rheumatology, 2011
The hyper-IgD and periodic fever syndrome (HIDS) is one of the classical monogenetic hereditary autoinflammatory disorders, and together with the more severe mevalonic aciduria it is also known as 'mevalonate kinase deficiency' (MKD). In this study, we will give an overview of the primary research on mevalonate kinase deficiency published in the past 2
Stoffels, M., Simon, A.
openaire   +2 more sources

Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria

Journal of Inherited Metabolic Disease, 1997
Mevalonic aciduria, the result of mevalonate kinase (MKase) deficiency (McKusick 251170), is a rare abnormality of cholesterol and nonsterol isoprene biosynthesis identified in approximately 14 patients. The phenotype includes developmental delays, failure to thrive, hypotonia, ataxia, organomegaly, dysmorphia, cataracts, lymphadenopathy, myopathy and ...
K M, Gibson, G F, Hoffmann, L, Sweetman, B, Buckingham   +3 more
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Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

Molecular Genetics and Metabolism, 2012
Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis.
Chitra, Prasad, Marina I, Salvadori, C A, Rupar   +2 more
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[Mevalonate kinase deficiency].

Zhonghua er ke za zhi = Chinese journal of pediatrics
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 interleukin-1β (IL-1β).
R H, Weng, J, Yang, Y H, Wang
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Severe Early-Onset Colitis Revealing Mevalonate Kinase Deficiency

Pediatrics, 2013
Hyperimmunoglobulinemia D is the less severe form of mevalonate kinase deficiency (MKD) caused by recessive inherited mutation in the mevalonate kinase gene. Hyperimmunoglobulinemia D is characterized by febrile attacks, often associated with transient digestive manifestations, such as abdominal pain, diarrhea, and vomiting.
Michael, Levy, Alina, Arion, Dominique, Berrebi, Laurence, Cuisset, Corinne, Jeanne-Pasquier, Brigitte, Bader-Meunier, Camille, Jung   +6 more
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Mevalonate Kinase Deficiency: Disclosing the Role of Mevalonate Pathway Modulation in Inflammation

Current Pharmaceutical Design, 2012
Inflammation is a highly regulated process involved both in the response to pathogens as well as in tissue homeostasis. In recent years, a complex network of proteins in charge of inflammation control has been revealed by the study of hereditary periodic fever syndromes.
A. Marcuzzi, S. Crovella, L. Monasta, L. V. Brumatti, M. Gattorno, J. Frenkel   +5 more
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Mevalonate Kinase Deficiency: A Survey of 50 Patients

Pediatrics, 2011
OBJECTIVE: The goal of this study was to describe the spectrum of clinical signs of mevalonate kinase deficiency (MKD). METHODS: This was a retrospective French and Belgian study of patients identified on the basis of MKD gene mutations.
Brigitte, Bader-Meunier, Benoit, Florkin, Jean, Sibilia, Cécile, Acquaviva, Eric, Hachulla, Gilles, Grateau, Olivier, Richer, Claire Michèle, Farber, Michel, Fischbach, Véronique, Hentgen, Patrick, Jego, Cécile, Laroche, Bénédicte, Neven, Thierry, Lequerré, Alexis, Mathian, Isabelle, Pellier, Isabelle, Touitou, Daniel, Rabier, Anne-Marie, Prieur, Laurence, Cuisset, Pierre, Quartier   +20 more
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[Mevalonate kinase deficiency in 2016].

La Revue de medecine interne, 2018
Mevalonate kinase deficiency is a rare, autosomal recessive, auto-inflammatory disease. This results from mutations in the gene MVK coding for the enzyme mevalonate kinase. This enzyme is involved in cholesterol and isoprenoids synthesis. Depending partially of the residual activity of the mevalonate kinase, the clinical spectrum realizes a continuum ...
C, Galeotti, S, Georgin-Lavialle, G, Sarrabay, I, Touitou, I, Koné-Paut   +4 more
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Mevalonate Kinase Deficiency: Enlarging the Clinical and Biochemical Spectrum

Pediatrics, 2003
Objective. Mevalonic aciduria as a result of mevalonate kinase deficiency is an inborn error of cholesterol biosynthesis characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash.
Prietsch, Viola, Mayatepek, Ertan, Krastel, Hermann, Haas, Dorothea, Zundel, Dorothee, Waterham, Hans R., Wanders, Ronald J. A., Gibson, K. Michael, Hoffmann, Georg F.   +8 more
openaire   +3 more sources

Pyrin Inflammasome Activation Triggers an IL-18-Driven IFNγ Response in Mevalonate Kinase Deficiency.

Journal of Allergy and Clinical Immunology
BACKGROUND Mevalonate kinase deficiency (MKD) is a rare monogenic autoinflammatory disorder characterized by recurrent fever episodes driven by dysregulated IL-1β secretion.
Niels S. van Heusden, Isa Cuijpers, Nils W F Meijer, D. Pieren, A. Markovska, Cem Gabay, C. Girard, I. Koné-Paut, B. Vastert, Dörte Hamann, J. Jans, E. Van Nieuwenhove, J. Frenkel, Marianne Boes   +13 more
semanticscholar   +1 more source