Article
Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site.
Modern rheumatology - 1 Jun 2010
Lehmann Petra, Salzberger Bernd, Haerle Peter, Aksentijevich Ivona, Kastner Daniel, Schoelmerich Juergen, Rosenfeld Stephanie, Mueller-Ladner Ulf
Abstract excerpt
We report on a 33-year-old female patient with a relatively mild clinical case of TNF-receptor associated periodic syndrome (TRAPS) and her 58-year-old father in whom end-stage renal disease due to TRAPS-related AA-amyloidosis has already developed. TRAPS was caused by a I170N mutation that has previously not been associated with amyloidosis. It remains unclear if an only mildly affected patient such as ours...
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