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Pediatric Rheumatology
Published in: Pediatric Rheumatology 1/2013

Open Access 01-11-2013 | Meeting abstract

P02-001 – A novel TNFRSF1A mutation in periodic fever

Authors: E Erken, F Yıldız, D Arslan Taş, S Dinkci

Published in: Pediatric Rheumatology | Special Issue 1/2013

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Excerpt

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory disease characterized by periodic fever, accompanying with attacks of abdominal pain, arthralgia, myalgia, erythematous rashes, periorbital edema and conjunctivitis. Mutations in the extracellular domain of the 55-kD tumor necrosis factor receptor (TNFRSF1A) has been shown to be responsible for the TRAPS syndrome. …
Literature
1.
Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH: The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet. 200, 69 (2): 301-142.CrossRef
2.
Stojanov S, McDermott MF: The tumour necrosis factor receptor-associated periodic syndrome: current concepts. Expert Rev Mol Med. 2005, 7 (22): 1-18.CrossRefPubMed
3.
Washio M, Nakano T, Kawaguchi Y, Takagi K, Kiyohara C, Tsukamoto H: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in Japan: a review of the literature. Mod Rheumatol. 2012, [Epub ahead of print]
Metadata
Title
P02-001 – A novel TNFRSF1A mutation in periodic fever
Authors
E Erken
F Yıldız
D Arslan Taş
S Dinkci
Publication date
01-11-2013
Publisher
BioMed Central
Published in
Pediatric Rheumatology / Issue Special Issue 1/2013
Electronic ISSN: 1546-0096
DOI
https://doi.org/10.1186/1546-0096-11-S1-A108

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