Gene–Dose Effect of MEFV Gain-of-Function Mutations Determines ex vivo Neutrophil Activation in Familial Mediterranean Fever

• Published in: Frontiers in immunology Vol. 11; p. 716
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 11.06.2020
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; autoinflammation; Caspase 1 - blood; Cells, Cultured; Child; Cohort Studies; familial mediterranean fever; Familial Mediterranean Fever - blood; Familial Mediterranean Fever - genetics; Familial Mediterranean Fever - immunology; Female; Gain of Function Mutation; Gene Dosage; Heterozygote; Humans; IL-18; Immunology; Interleukin-18 - blood; Male; Middle Aged; Neutrophil; Neutrophil Activation; Neutrophils - immunology; Phenotype; Pyrin - genetics; S100A12; S100A12 Protein - blood; Young Adult; autoinflammation; S100A12; Neutrophil; IL-18; familial mediterranean fever

Familial Mediterranean fever (FMF) is caused by mutations within the Mediterranean fever ( ) 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 a...