Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.
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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 perspectivesLighting the fires within: the cell biology of autoinflammatory diseasesThe structure of a binary complex between a mammalian mevalonate kinase and ATP: insights into the reaction mechanism and human inherited diseaseNew insights into the enigma of immunoglobulin D.The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndromeHyper-IgD syndrome/mevalonate kinase deficiency: what is new?Increased urinary leukotriene E(4) during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndromeHyper-immunoglobulin A in the hyperimmunoglobulinemia D syndromePyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDSHenoch-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.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.Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Lipid mediators as agonists for the resolution of acute lung inflammation and injury.Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)
P2860
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P2860
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.
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 the gene encoding ...... ational Hyper-IgD Study Group.
@ast
Mutations in the gene encoding ...... ational Hyper-IgD Study Group.
@en
type
label
Mutations in the gene encoding ...... ational Hyper-IgD Study Group.
@ast
Mutations in the gene encoding ...... ational Hyper-IgD Study Group.
@en
prefLabel
Mutations in the gene encoding ...... ational Hyper-IgD Study Group.
@ast
Mutations in the gene encoding ...... ational Hyper-IgD Study Group.
@en
P2093
P356
P1433
P1476
Mutations in the gene encoding ...... national Hyper-IgD Study Group
@en
P2093
de Jong JG
van de Velde-Visser SD
van der Meer JW
P2888
P304
P356
10.1038/9696
P407
P577
1999-06-01T00:00:00Z