Article
Gene-Dose Effect of MEFV Gain-of-Function Mutations Determines ex vivo Neutrophil Activation in Familial Mediterranean Fever.
Frontiers in immunology - 1 Jan 2020
Stoler Iris, Freytag Judith, Orak Banu, Unterwalder Nadine, Henning Stephan, Heim Katrin, von Bernuth Horst, Krüger Renate, Winkler Stefan, Eschenhagen Patience, Seipelt Eva, Mall Marcus A, Foell Dirk, Kessel Christoph, Wittkowski Helmut, Kallinich Tilmann
Abstract excerpt
Familial Mediterranean fever (FMF) is caused by mutations within the Mediterranean fever (MEFV) gene. Disease severity depends on genotype and gene dose with most serious clinical courses observed in patients with M694V homozygosity. Neutrophils are thought to play an important role in the initiation and perpetuation of inflammatory processes in FMF, but little is known about the specific characteristics of these...
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