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Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus.
Weill O, Decramer S, Malcus C, Kassai B, Rouvet I, Ginhoux T, Crow YJ, Rieux-Laucat F, Soulas-Sprauel P, Pagnier A, Koné-Paut I, Piram M, Galeotti C, Samaille C, Reumaux H, Lanteri A, Dubois SM, Lefebvre H, Burtey S, Maurier F, Carbasse A, Lemelle I, Meinzer U, Despert V, Flodrops H, Fabien N, Ranchin B, Hachulla E, Bader-Meunier B, Belot A. Weill O, et al. Among authors: belot a. Joint Bone Spine. 2017 Oct;84(5):589-593. doi: 10.1016/j.jbspin.2016.12.008. Epub 2016 Dec 28. Joint Bone Spine. 2017. PMID: 28039062
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: belot a. Rheumatology (Oxford). 2018 Jan 1;57(1):100-111. doi: 10.1093/rheumatology/kex373. Rheumatology (Oxford). 2018. PMID: 29040788
[Clinical overview of auto-inflammatory diseases].
Georgin-Lavialle S, Rodrigues F, Hentgen V, Fayand A, Quartier P, Bader-Meunier B, Bachmeyer C, Savey L, Louvrier C, Sarrabay G, Melki I, Belot A, Koné-Paut I, Grateau G. Georgin-Lavialle S, et al. Among authors: belot a. Rev Med Interne. 2018 Apr;39(4):214-232. doi: 10.1016/j.revmed.2018.01.004. Epub 2018 Feb 28. Rev Med Interne. 2018. PMID: 29501512 Review. French.
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.
Rama M, Duflos C, Melki I, Bessis D, Bonhomme A, Martin H, Doummar D, Valence S, Rodriguez D, Carme E, Genevieve D, Heimdal K, Insalaco A, Franck N, Queyrel-Moranne V, Tieulie N, London J, Uettwiller F, Georgin-Lavialle S, Belot A, Koné-Paut I, Hentgen V, Boursier G, Touitou I, Sarrabay G. Rama M, et al. Among authors: belot a. Eur J Hum Genet. 2018 Jul;26(7):960-971. doi: 10.1038/s41431-018-0130-6. Epub 2018 Apr 23. Eur J Hum Genet. 2018. PMID: 29681619 Free PMC article.
Safety of biological agents in paediatric rheumatic diseases: A real-life multicenter retrospective study using the JIRcohorte database.
Cabrera N, Lega JC, Kassai B, Wouters C, Kondi A, Cannizzaro E, Woerner A, Chausset A, Roethlisberger S, Jeanneret C, Aeschlimann F, Malik S, Duquesne A, Kaiser D, Higel L, Maes A, Berthet G, Hentgen V, Kone-Paut I, Belot A, Hofer M. Cabrera N, et al. Among authors: belot a. Joint Bone Spine. 2019 May;86(3):343-350. doi: 10.1016/j.jbspin.2018.08.003. Epub 2018 Sep 7. Joint Bone Spine. 2019. PMID: 30201476
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