Familial Mediterranean fever mutations are hypermorphic mutations that specifically decrease the activation threshold of the Pyrin inflammasome.
Jamilloux Y, Lefeuvre L, Magnotti F, Martin A, Benezech S, Allatif O, Penel-Page M, Hentgen V, Sève P, Gerfaud-Valentin M, Duquesne A, Desjonquères M, Laurent A, Rémy-Piccolo V, Cimaz R, Cantarini L, Bourdonnay E, Walzer T, Py BF, Belot A, Henry T.
Jamilloux Y, et al. Among authors: magnotti f.
Rheumatology (Oxford). 2018 Jan 1;57(1):100-111. doi: 10.1093/rheumatology/kex373.
Rheumatology (Oxford). 2018.
PMID: 29040788