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...

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Bibliographic Details
Published inModern rheumatology Vol. 20; no. 3; pp. 311 - 315
Main Authors Lehmann, Petra, Salzberger, Bernd, Haerle, Peter, Aksentijevich, Ivona, Kastner, Daniel, Schoelmerich, Juergen, Rosenfeld, Stephanie, Mueller-Ladner, Ulf
Format Journal Article
LanguageEnglish
Published United States Informa Healthcare 01.06.2010
Subjects
Adult
Amyloidosis - genetics
Amyloidosis - immunology
Female
Hereditary Autoinflammatory Diseases - genetics
Hereditary Autoinflammatory Diseases - immunology
Humans
Kidney Failure, Chronic - genetics
Kidney Failure, Chronic - immunology
Mutation
Receptors, Tumor Necrosis Factor, Type I - genetics
Receptors, Tumor Necrosis Factor, Type I - immunology
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Summary: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.
ISSN:1439-7595
1439-7609
DOI:10.3109/s10165-010-0273-y