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dc.contributor.authorAganna, E
dc.contributor.authorHawkins, PN
dc.contributor.authorOzen, Seza
dc.contributor.authorPettersson, T
dc.contributor.authorBybee, A
dc.contributor.authorMcKee, S
dc.contributor.authorLachmann, H
dc.contributor.authorKarenko, L
dc.contributor.authorRanki, A
dc.contributor.authorBakkaloglu, A
dc.contributor.authorBesbas, N
dc.contributor.authorTopaloglu, R
dc.contributor.authorHoffman, H
dc.contributor.authorHitman, G
dc.contributor.authorWoo, P
dc.contributor.authorMcDermott, M
dc.date.accessioned2019-12-10T10:34:21Z
dc.date.available2019-12-10T10:34:21Z
dc.date.issued2004
dc.identifier.issn1466-4879
dc.identifier.urihttps://doi.org/10.1038/sj.gene.6364070
dc.identifier.urihttp://hdl.handle.net/11655/13770
dc.description.abstractWe investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes (HPFs) might be risk factors for AA amyloidosis among patients with chronic inflammatory disorders, including rheumatoid arthritis (RA), juvenile idiopathic arthritis (JIA), Crohn's disease, undiagnosed recurrent fevers and HPFs themselves. Four of 67 patients with RA plus amyloidosis had MEFV variants compared with none of 34 RA patients without amyloid (P value = 0.03). The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated periodic syndrome (TRAPS) complicated by amyloid in two separate multiplex TRAPS families containing 5 and 16 affected members respectively, and the single patient with Muckle-Wells syndrome who had amyloidosis was homozygous for this variant. The R92Q variant of TNFRSF1A was present in two of 61 JIA patients with amyloidosis, and none of 31 nonamyloidotic JIA patients. No HPF gene mutations were found in 130 healthy control subjects. Although allelic variants in HPFs genes are not major susceptibility factors for AA amyloidosis in chronic inflammatory disease, low-penetrance variants of MEFV and TNFRSF1A may have clinically significant proinflammatory effects.
dc.language.isoen
dc.publisherNature Publishing Group
dc.relation.isversionof10.1038/sj.gene.6364070
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGenetics & Heredity
dc.subjectImmunology
dc.titleAllelic Variants in Genes Associated with Hereditary Periodic Fever Syndromes as Susceptibility Factors for Reactive Systemic AA Amyloidosis
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalGenes And Immunity
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume5
dc.identifier.issue4
dc.identifier.startpage289
dc.identifier.endpage293
dc.description.indexWoS
dc.description.indexScopus


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