TNF receptor-associated periodic syndrome (TRAPS): Description of a novel TNFRSF1A mutation and response to etanercept

TRAPS is the most common of the autosomal dominant periodic fever syndromes. It is caused by mutations in the TNFRSF1A gene, which encodes for the type 1 TNF-receptor (TNFR1). We describe here a Brazilian patient with TRAPS associated to a novel TNFRSF1A de novo mutation and the response to anti-TNF...

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Veröffentlicht in:European journal of pediatrics 2008-12, Vol.167 (12), p.1421-1425
Hauptverfasser: Jesus, Adriana A., Oliveira, João B., Aksentijevich, Ivona, Fujihira, Erika, Carneiro-Sampaio, Magda M. S., Duarte, Alberto J. S., Silva, Clovis A. A.
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Sprache:eng
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