Results 141 to 150 of about 29,180 (194)

Temperature and drug treatments in mevalonate kinase deficiency: an ex vivo study. [PDF]

Biomed Res Int, 2013
Tricarico PM, Kleiner G, Piscianz E, Zanin V, Monasta L, Crovella S, Marcuzzi A.   +6 more
europepmc   +1 more source

Metabolic-Immune Crosstalk in Pediatric Rheumatology: From Pathogenesis to Precision Therapy. [PDF]

Iran J Child Neurol
Shashaani N, Javadi V, Rahmani K, Alaei MR, Shiari R.   +4 more
europepmc   +1 more source

IL-1β and mevalonate kinase deficiency

, 2008
openaire   +1 more source

Molecular and cellular consequences of mevalonate kinase deficiency.

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
Mevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder associated with recurrent autoinflammatory episodes. The disorder is caused by bi-allelic loss-of-function variants in the MVK gene, which encodes mevalonate kinase (MK), an ...
Frouwkje A. Politiek, M. Turkenburg, L. Henneman, Rob Ofman, H. Waterham   +4 more
semanticscholar   +3 more sources

Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.

Inflammatory Bowel Diseases, 2021
Mevalonate kinase deficiency should be considered in patients with severe very-early-onset inflammatory bowel disease (IBD), especially in patients with a history of recurrent or chronic fever, peritoneal adhesions, and atypical IBD pathology.
B. Bader-Meunier, Andreia Martins, F. Charbit-Henrion, U. Meinzer, A. Belot, L. Cuisset, A. Faye, S. Georgin-lavialle, P. Quartier, V. Rémy-Piccolo, F. Ruemmele, F. Uettwiller, J. Viala, Nadine Cerf Bensussan, D. Berrebi, I. Melki   +15 more
semanticscholar   +2 more sources

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Mevalonate Kinase Deficiency

2019
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene. It is characterized by recurrent attacks of fever mostly associated with cervical lymphadenopathy, cutaneous, digestive, and musculoskeletal manifestations.
Joost Frenkel, Anna Simon, Frenkel Joost   +2 more
exaly   +3 more sources

Mevalonate kinase deficiency nomenclature

Rheumatology International, 2013
In the letter of Celsi et al. [1], the authors suggest dropping the names of hyper-IgD syndrome (HIDS) and mevalonate kinase deficiency (MKD) for this hereditary syndrome. They base their conclusion upon the fact that there is no correlation between serum IgD concentration and disease severity, that not all HIDS patients show elevated IgD, and that ...
Stoffels, M., Meer, J.W.M. van der, Simon, A.   +2 more
openaire   +3 more sources

Uveitis, glaucoma, and cataract with mevalonate kinase deficiency

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2022
We report 7 years of follow-up data on ocular findings in a 2-month-old boy who presented with early-onset bilateral granulomatous panuveitis with subsequent development of secondary glaucoma and total cataract, along with multisystem involvement. He was diagnosed with mevalonate kinase deficiency (MKD), with a homozygous missense variant in exon-6 of ...
Nidhi, Agarwal, Mihir, Kothari
openaire   +2 more sources

Successful treatment of refractory mevalonate kinase deficiency with combination therapy targeting TNFα and IL1β.

Rheumatology
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by biallelic mutations in the MVK gene. The phenotypic spectrum is variable and ranges from periodic fever syndrome (PFS) to mevalonic aciduria (MA), with ...
M. Céleste, Scheers Isabelle, T. Clement, Boulanger Cécile   +3 more
semanticscholar   +2 more sources

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

Human Mutation, 2006
Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase (MK).
Janet Koster, Hans R Waterham
exaly   +2 more sources