Article
Genetic analysis as a valuable key to diagnosis and treatment of periodic Fever.
Archives of internal medicine - 12 Nov 2001
Simon A, van Deuren M, Tighe P J, van der Meer J W, Drenth J P
Abstract excerpt
We describe 2 Dutch patients with recurrent fever attacks undiagnosed for more than 40 years. The diagnosis of periodic fever was made when molecular analysis revealed novel mutations in the tumor necrosis factor (TNF) receptor gene (TNFRSF1A), establishing the diagnosis of TNF receptor-associated periodic syndrome. This syndrome is an autosomal dominant disorder characterized by recurring episodes of fever,...
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