Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/11401
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dc.contributor.authorMcDermott, M.en
dc.contributor.authorAksentijevich, I.en
dc.contributor.authorGalon, J.en
dc.contributor.authorMcDermott, E.en
dc.contributor.authorOgunkolade, B.en
dc.contributor.authorCentola, M.en
dc.contributor.authorMansfield, E.en
dc.contributor.authorGadina, M.en
dc.contributor.authorKarenko, L.en
dc.contributor.authorPetterson, T.en
dc.contributor.authorMcCarthy, J.en
dc.contributor.authorFrucht, D.en
dc.contributor.authorAringer, M.en
dc.contributor.authorTorosyan, Y.en
dc.contributor.authorTeppo, A.en
dc.contributor.authorWilson, M.en
dc.contributor.authorKaraarslan, H.en
dc.contributor.authorWan, Y.en
dc.contributor.authorTodd, I.en
dc.contributor.authorWood, G.en
dc.contributor.authoret al.en
dc.date.issued1999en
dc.identifier.citationCell, 1999; 97(1):133-144en
dc.identifier.issn0092-8674en
dc.identifier.issn1097-4172en
dc.identifier.urihttp://hdl.handle.net/2440/11401-
dc.description.abstractAutosomal dominant periodic fever syndromes are characterized by unexplained episodes of fever and severe localized inflammation. In seven affected families, we found six different missense mutations of the 55 kDa tumor necrosis factor receptor (TNFR1), five of which disrupt conserved extracellular disulfide bonds. Soluble plasma TNFR1 levels in patients were approximately half normal. Leukocytes bearing a C52F mutation showed increased membrane TNFR1 and reduced receptor cleavage following stimulation. We propose that the autoinflammatory phenotype results from impaired downregulation of membrane TNFR1 and diminished shedding of potentially antagonistic soluble receptor. TNFR1-associated periodic syndromes (TRAPS) establish an important class of mutations in TNF receptors. Detailed analysis of one such mutation suggests impaired cytokine receptor clearance as a novel mechanism of disease.en
dc.language.isoenen
dc.publisherCELL PRESSen
dc.subjectLeukocytes; Humans; Familial Mediterranean Fever; Syndrome; Receptors, Tumor Necrosis Factor; Receptors, Tumor Necrosis Factor, Type I; Antigens, CD; Pedigree; DNA Mutational Analysis; Amino Acid Sequence; Genes, Dominant; Germ-Line Mutation; Molecular Sequence Data; Female; Maleen
dc.titleGermline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromesen
dc.typeJournal articleen
dc.identifier.rmid0030004338en
dc.identifier.doi10.1016/S0092-8674(00)80721-7en
dc.identifier.pubid68344-
pubs.library.collectionGenetics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
Appears in Collections:Genetics publications

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