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Type: Journal article
Title: Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
Author: McDermott, M.
Aksentijevich, I.
Galon, J.
McDermott, E.
Ogunkolade, B.
Centola, M.
Mansfield, E.
Gadina, M.
Karenko, L.
Petterson, T.
McCarthy, J.
Frucht, D.
Aringer, M.
Torosyan, Y.
Teppo, A.M.
Wilson, M.
Karaarslan, H.
Wan, Y.
Todd, I.
Wood, G.
et al.
Citation: Cell, 1999; 97(1):133-144
Publisher: CELL PRESS
Issue Date: 1999
ISSN: 0092-8674
Abstract: Autosomal 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.
Keywords: Leukocytes
Familial Mediterranean Fever
Receptors, Tumor Necrosis Factor
Receptors, Tumor Necrosis Factor, Type I
Antigens, CD
DNA Mutational Analysis
Amino Acid Sequence
Genes, Dominant
Germ-Line Mutation
Molecular Sequence Data
DOI: 10.1016/S0092-8674(00)80721-7
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Appears in Collections:Aurora harvest 2
Genetics publications

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