TAILIEUCHUNG - Báo cáo y học: "Falling into TRAPS – receptor misfolding in the TNF receptor 1-associated periodic fever syndrome"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học General Psychiatry cung cấp cho các bạn kiến thức về ngành y đề tài: Falling into TRAPS – receptor misfolding in the TNF receptor 1-associated periodic fever syndrome. | Available online http content 9 4 217 Review Falling into TRAPS - receptor misfolding in the TNF receptor 1-associated periodic fever syndrome Fiona C Kimberley1 Adrian A Lobito2 Richard M Siegel3 and Gavin R Screaton4 1 Laboratory for Experimental Oncology and Radiobiology Academic Medical Center Meibergdreef 9 1105 AZ Amsterdam The Netherlands 2Genetech 1 DnA Way MS 63 South San Francisco CA 94080 USA 3Immunoregulation Unit Autoimmunity Branch NIAMS National Institutes of Health Bethesda MD 20892 USA 4Imperial College Hammersmith Hospital Du Cane Road London W12 0NN UK Corresponding author Gavin Screaton Published 23 July 2007 This article is online at http content 9 4 217 2007 BioMed Central Ltd Arthritis Research Therapy 2007 9 217 doi ar2197 Abstract TNF receptor-associated periodic syndrome TRAPS is a dominantly inherited disease caused by missense mutations in the TNF receptor 1 TNFR1 gene. Patients suffer from periodic bouts of severe abdominal pain localised inflammation migratory rashes and fever. More than 40 individual mutations have been identified all of which occur in the extracellular domain of TNFR1. In the present review we discuss new findings describing aberrant trafficking and function of TNFR1 harbouring TRAPS mutations challenging the hypothesis that TRAPS pathology is driven by defective receptor shedding and we suggest that TNFR1 might acquire novel functions in the endoplasmic reticulum distinct from its role as a cell surface receptor. We also describe the clinical manifestations of TRAPS current treatment regimens and the widening array of patient mutations. Introduction The TNF-reeeptor associated periodic syndrome TRAPS is a dominantly inherited periodic fever syndrome characterised by prolonged episodic fevers multiorgan involvement and resistance to colchicine. Over 40 missense mutations in TNF receptor 1 TNFR1 the prototypical proinflammatory receptor .

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