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https://hdl.handle.net/2440/11401
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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 1097-4172 |
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 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 Male |
DOI: | 10.1016/S0092-8674(00)80721-7 |
Published version: | http://dx.doi.org/10.1016/s0092-8674(00)80721-7 |
Appears in Collections: | Aurora harvest 2 Genetics publications |
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