PMID: 15228183Jul 2, 2004Paper

A novel tumour necrosis factor receptor mutation in a Finnish family with periodic fever syndrome

Scandinavian Journal of Rheumatology
S Stjernberg-SalmelaA Ranki

Abstract

To report a novel mutation of the TNF receptor type 1 gene (TNFRSF1A) in a Finnish patient and her mother, both suffering from periodic fever. Soluble TNFRSF1A in serum was measured by enzyme-linked immunoabsorbancy, and induced TNFRSF1A shedding from monocyte cell surfaces was determined using fluorescence-activated cell sorter. Mutation detection was performed using PCR amplification and sequencing of the ten exons of TNFRSF1A. Low levels of soluble TNFRSF1A were detected in both patients between attacks. Sequencing revealed a missense mutation in exon 3 in the second extracellular domain of TNFRSF1A, resulting in a substitution of cysteine with arginine at residue 73 (C73R), confirming the diagnosis of TNF receptor-associated periodic syndrome (TRAPS). We were unable to demonstrate a distinct TNFRSF1A shedding defect. In patients of Nordic descent, affected by dominantly inherited recurrent fever, TRAPS is a diagnosis worthy of attention. All TNFRSF1A mutations hitherto described in the Nordic countries have been different.

References

Oct 1, 1968·The American Journal of Medicine·F Bergman, S Warmenius
Apr 25, 2000·BMJ : British Medical Journal·J P Drenth, J W van Der Meer
Jan 10, 2003·Nucleic Acids Research·Cyril Sarrauste de MenthièreIsabelle Touitou

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Citations

Jul 5, 2011·Trends in Molecular Medicine·Adrian A LobitoFiona C Kimberley
Oct 7, 2009·International Journal of Immunogenetics·N KutukculerA Berdeli
Nov 19, 2004·Current Opinion in Pediatrics·Capucine Picard, Jean-Laurent Casanova

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