Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
about
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesisMutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndromeChronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytesMutations in NALP12 cause hereditary periodic fever syndromesDe novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseasesThe tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)XOL-1, primary determinant of sexual fate in C. elegans, is a GHMP kinase family member and a structural prototype for a class of developmental regulatorsAutoinflammatory gene mutations in Behçet's diseaseMevalonate kinase deficiency: current perspectivesCrystal structure of theStreptococcus pneumoniaemevalonate kinase in complex with diphosphomevalonateThe challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndromeMutations in POMGNT1 cause non-syndromic retinitis pigmentosaIncreased urinary leukotriene E(4) during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndromeHyper-immunoglobulin A in the hyperimmunoglobulinemia D syndromePoints of control in inflammationHenoch-Schönlein purpura in a child with hyperimmunoglobulinemia D and periodic fever syndrome.The PYRIN connection: novel players in innate immunity and inflammation.Perinatal onset mevalonate kinase deficiency.Neonatal hepatitis as first manifestation of hyperimmunoglobulinemia d syndromeThe expanding spectrum of rare monogenic autoinflammatory diseases.Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signalsImmunoglobulin D: properties, measurement, and clinical relevance.Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.Caspase functions in cell death and disease.Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses.When less is more: primary immunodeficiency with an autoinflammatory kickNuclear hormone receptors put immunity on sterols.Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis.Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes.Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndromeSmith-Lemli-Opitz syndrome and the DHCR7 gene.Autoinflammation: translating mechanism to therapy.A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients.Targeting the inflammasome in rheumatic diseases.Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase DeficiencyInflammasome-mediated autoinflammatory disorders.
P2860
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P2860
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@ast
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@en
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@en-gb
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@nl
type
label
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@ast
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@en
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@en-gb
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@nl
prefLabel
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@ast
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@en
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@en-gb
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@nl
P2093
P3181
P356
P1433
P1476
Mutations in MVK, encoding mev ...... D and periodic fever syndrome
@en
P2093
A van Royen-Kerkhof
B T Poll-The
G J Romeijn
G T Rijkers
H R Waterham
M M de Barse
R J Wanders
P2888
P3181
P356
10.1038/9691
P407
P577
1999-06-01T00:00:00Z
P6179
1034158584