Article
The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway.
Arthritis research & therapy - 3 Apr 2015
Greco Eliana, Aita Ada, Galozzi Paola, Gava Alessandra, Sfriso Paolo, Negm Ola H, Tighe Patrick, Caso Francesco, Navaglia Filippo, Dazzo Emanuela, De Bortoli Marzia, Rampazzo Alessandra, Obici Laura, Donadei Simona, Merlini Giampaolo, Plebani Mario, Todd Ian, Basso Daniela, Punzi Leonardo
Abstract excerpt
INTRODUCTION: Mutations in the TNFRSF1A gene, encoding tumor necrosis factor receptor 1 (TNF-R1), are associated with the autosomal dominant autoinflammatory disorder, called TNF receptor associated periodic syndrome (TRAPS). TRAPS is clinically characterized by recurrent episodes of long-lasting fever and systemic inflammation. A novel mutation (c.262 T > C; S59P) in the TNFRSF1A gene at residue 88 of the mature...
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