title: Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site.
abstract: 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 would benefit from treatment considering her father's severe course of disease. The relevant literature on this problem is reviewed.
authors.affiliation: University Clinic of Regensburg, Regensburg, Germany. petra.lehmann@klinik.uni-regensburg.de
authors.forename: Petra
authors.initials: P
authors.lastname: Lehmann
authors.forename: Bernd
authors.initials: B
authors.lastname: Salzberger
authors.forename: Peter
authors.initials: P
authors.lastname: Haerle
authors.forename: Ivona
authors.initials: I
authors.lastname: Aksentijevich
authors.forename: Daniel
authors.initials: D
authors.lastname: Kastner
authors.forename: Juergen
authors.initials: J
authors.lastname: Schoelmerich
authors.forename: Stephanie
authors.initials: S
authors.lastname: Rosenfeld
authors.forename: Ulf
authors.initials: U
authors.lastname: Mueller-Ladner
mesh_terms: D000328:Adult; D000686:Amyloidosis / Q000235:genetics / Q000276:immunology; D005260:Female; D056660:Hereditary Autoinflammatory Diseases / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics / Q000276:immunology; D009154:Mutation; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics* / Q000276:immunology
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I