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Arthritis Research & Therapy
Published in: Arthritis Research & Therapy 4/2007

01-08-2007 | Review

Falling into TRAPS – receptor misfolding in the TNF receptor 1-associated periodic fever syndrome

Authors: Fiona C Kimberley, Adrian A Lobito, Richard M Siegel, Gavin R Screaton

Published in: Arthritis Research & Therapy | Issue 4/2007

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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.
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Metadata
Title
Falling into TRAPS – receptor misfolding in the TNF receptor 1-associated periodic fever syndrome
Authors
Fiona C Kimberley
Adrian A Lobito
Richard M Siegel
Gavin R Screaton
Publication date
01-08-2007
Publisher
BioMed Central
Published in
Arthritis Research & Therapy / Issue 4/2007
Electronic ISSN: 1478-6362
DOI
https://doi.org/10.1186/ar2197

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