Article
Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children.
Annals of the rheumatic diseases - 1 Apr 2014
Ozen Seza, Demirkaya Erkan, Amaryan Gayane, Koné-Paut Isabelle, Polat Adem, Woo Pat, Uziel Yosef, Modesto Consuelo, Finetti Martina, Quartier Pierre, Papadopoulou-Alataki Efimia, Al-Mayouf Sulaiman M, Fabio Giovanna, Gallizzi Romina, Cantarini Luca, Frenkel Joost, Nielsen Susan, Hofer Michael, Insalaco Antonella, Acikel C, Ozdogan Huri, Martini Alberto, Ruperto Nicolino, Gattorno Marco
Abstract excerpt
BACKGROUND AND AIM: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations of the MEFV gene. We analyse the impact of ethnic, environmental and genetic factors on the severity of disease presentation in a large international registry. METHODS: Demographic, genetic and clinical data from validated paediatric FMF patients enrolled in the Eurofever registry were analysed. Three...
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