Results 111 to 120 of about 28,306 (175)
Mechanisms underlying inflammation in mevalonate kinase deficiency
Mevalonate kinase deficiency is an autoinflammatory metabolic disorder caused by biallelic pathogenic variants in the MVK gene characterized by lifelong recurring and often unprovoked episodes of inflammation. Mevalonate kinase is an early enzyme of the isoprenoid biosynthesis pathway, which supplies cells with both non-sterol and sterol isoprenoids ...
openaire +2 more sources
Behçet's Disease: A Comprehensive Overview of Symptoms, Pathology, Genetics, and Treatment. [PDF]
J Mother ChildBatalli A, Liehr T, Temaj G.
europepmc +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Uveitis, glaucoma, and cataract with mevalonate kinase deficiency.
Journal of American Association for Pediatric Ophthalmology and Strabismus, 2022We 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
semanticscholar +3 more sources
Mevalonate kinase deficiency nomenclature
Rheumatology International, 2013In 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. +2 more
openaire +3 more sources
Clincal and Experimental Dermatology, 2023
Comment on “Paradoxical hidradenitis suppurativa due to anti-interleukin-1 agents for mevalonate kinase deficiency successfully treated with the addition of ustekinumab”
F. Martora +4 more
semanticscholar +1 more source
Comment on “Paradoxical hidradenitis suppurativa due to anti-interleukin-1 agents for mevalonate kinase deficiency successfully treated with the addition of ustekinumab”
F. Martora +4 more
semanticscholar +1 more source
Clincal and Experimental Dermatology, 2023
Hidradenitis suppurativa (HS) as a paradoxical adverse event (PAE) using anti-IL1 has not been reported in the literature. We herein report a case of paradoxical hidradenitis suppurativa due to anti-IL1 agents for mevalonate kinase deficiency disease ...
Pablo López Sanz +5 more
semanticscholar +1 more source
Hidradenitis suppurativa (HS) as a paradoxical adverse event (PAE) using anti-IL1 has not been reported in the literature. We herein report a case of paradoxical hidradenitis suppurativa due to anti-IL1 agents for mevalonate kinase deficiency disease ...
Pablo López Sanz +5 more
semanticscholar +1 more source
Perinatal Onset Mevalonate Kinase Deficiency
Pediatric and Developmental Pathology, 2011Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which presents in infancy or early childhood with growth failure, dysmorphic features, and neurologic disease; and hyperimmunoglobulinemia D and periodic fever syndrome, which ...
Laurie A, Steiner +5 more
openaire +2 more sources
2016
Mevalonate kinase deficiency (MKD) is an autosomal recessive inborn error of isoprenoid biosynthesis, a pathway yielding sterols and nonsterol isoprenoids.In patients, the enzyme activity of mevalonate kinase is severely reduced due to mutations in the encoding gene, MVK.
Frenkel, Joost, Waterham, Hans R.
openaire +3 more sources
Mevalonate kinase deficiency (MKD) is an autosomal recessive inborn error of isoprenoid biosynthesis, a pathway yielding sterols and nonsterol isoprenoids.In patients, the enzyme activity of mevalonate kinase is severely reduced due to mutations in the encoding gene, MVK.
Frenkel, Joost, Waterham, Hans R.
openaire +3 more sources
2019
Mevalonate kinase deficiency (MKD) is a rare autoinflammatory disease caused by loss of function mutations in both alleles of MVK, the gene encoding the enzyme mevalonate kinase. Deficiency of this enzyme results in impaired isoprenoid biosynthesis. The inflammatory attacks in MKD are characterized by fever, lymphadenopathy, gastrointestinal symptoms ...
Joost Frenkel, Anna Simon
openaire +2 more sources
Mevalonate kinase deficiency (MKD) is a rare autoinflammatory disease caused by loss of function mutations in both alleles of MVK, the gene encoding the enzyme mevalonate kinase. Deficiency of this enzyme results in impaired isoprenoid biosynthesis. The inflammatory attacks in MKD are characterized by fever, lymphadenopathy, gastrointestinal symptoms ...
Joost Frenkel, Anna Simon
openaire +2 more sources