Literature DB >> 16299693

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

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.

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Year:  2005        PMID: 16299693

Source DB:  PubMed          Journal:  J Nephrol        ISSN: 1121-8428            Impact factor:   3.902


  2 in total

Review 1.  Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome.

Authors:  Fiona C Kimberley; Adrian A Lobito; Richard M Siegel; Gavin R Screaton
Journal:  Arthritis Res Ther       Date:  2007       Impact factor: 5.156

Review 2.  From the Mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases.

Authors:  Donato Rigante; Bruno Frediani; Mauro Galeazzi; Luca Cantarini
Journal:  Biomed Res Int       Date:  2013-07-23       Impact factor: 3.411

  2 in total

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