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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: remy piccolo v. Rheumatology (Oxford). 2018 Jan 1;57(1):100-111. doi: 10.1093/rheumatology/kex373. Rheumatology (Oxford). 2018. PMID: 29040788
Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease.
Bader-Meunier B, Martins AL, Charbit-Henrion F, Meinzer U, Belot A, Cuisset L, Faye A, Georgin-Lavialle S, Quartier P, Remy-Piccolo V, Ruemmele F, Uettwiller F, Viala J, Cerf Bensussan N, Berrebi D, Melki I. Bader-Meunier B, et al. Among authors: remy piccolo v. Inflamm Bowel Dis. 2021 Oct 20;27(11):1853-1857. doi: 10.1093/ibd/izab139. Inflamm Bowel Dis. 2021. PMID: 34525209
[Kawasaki disease and cranial nerve involvement: two cases].
Delafay MC, Matoussi Z, Remy-Piccolo V, Gay C, Veyrier M, Stéphan JL. Delafay MC, et al. Among authors: remy piccolo v. Arch Pediatr. 2015 Aug;22(8):853-6. doi: 10.1016/j.arcped.2015.05.013. Epub 2015 Jul 2. Arch Pediatr. 2015. PMID: 26141803 French.