Article
Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene.
The Journal of rheumatology - 1 Jul 2011
Borghini Silvia, Fiore Michele, Di Duca Marco, Caroli Francesco, Finetti Martina, Santamaria Giuseppe, Ferlito Francesca, Bua Federico, Picco Paolo, Obici Laura, Martini Alberto, Gattorno Marco, Ceccherini Isabella
Abstract excerpt
OBJECTIVE: Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant multisystemic autoinflammatory condition. Patients display different mutations of the TNF receptor superfamily 1A gene (TNFRSF1A), coding for a nearly ubiquitous TNF receptor (TNFR1). No TNFRSF1A mutation has been identified in a proportion of patients with TRAPS-like phenotype. METHODS: We investigated...
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