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Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family

Dinc, A.; Erdem, H.; Rowczenio, D.; Simsek, I.; Pay, S.; Bahce, M.; Lachmann, H.

Journal of Nephrology 18(5): 626-629

2005

ISSN/ISBN: 1121-8428
PMID: 16299693
Document Number: 585091
We investigated the presence of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family with recurrent fever and systemic reactive (AA) amyloidosis. A missense mutation in exon 3 of the TNFRSF1A gene, resulting in an amino acid substitution Phe60Leu (F60L) was found in the proband and his father. These are the first confirmed TRAPS cases in the Turkish population. This family highlights the importance of considering all the causes of inherited fevers and performing thorough clinical and genetic investigations to secure a diagnosis, even in populations in which familial Mediterranean fever (IMF) is highly prevalent.

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