| Literature DB >> 16299693 |
Ayhan Dinc1, Hakan Erdem, Dorota Rowczenio, Ismail Simsek, Salih Pay, Muhterem Bahce, Helen Lachmann.
Abstract
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 onsidering 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 (FMF) is highly prevalent.Entities:
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Year: 2005 PMID: 16299693
Source DB: PubMed Journal: J Nephrol ISSN: 1121-8428 Impact factor: 3.902