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Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.
Benezech S, Walzer T, Charrier E, Heidelberg D, De Saint-Basile G, Bertrand Y, Belot A. Benezech S, et al. Among authors: belot a. Clin Case Rep. 2017 Sep 12;5(11):1743-1749. doi: 10.1002/ccr3.1135. eCollection 2017 Nov. Clin Case Rep. 2017. PMID: 29152263 Free PMC article.
Mutations in CECR1 associated with a neutrophil signature in peripheral blood.
Belot A, Wassmer E, Twilt M, Lega JC, Zeef LA, Oojageer A, Kasher PR, Mathieu AL, Malcus C, Demaret J, Fabien N, Collardeau-Frachon S, Mechtouff L, Derex L, Walzer T, Rice GI, Durieu I, Crow YJ. Belot A, et al. Pediatr Rheumatol Online J. 2014 Sep 24;12:44. doi: 10.1186/1546-0096-12-44. eCollection 2014. Pediatr Rheumatol Online J. 2014. PMID: 25278816 Free PMC article.
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
Mathieu AL, Verronese E, Rice GI, Fouyssac F, Bertrand Y, Picard C, Chansel M, Walter JE, Notarangelo LD, Butte MJ, Nadeau KC, Csomos K, Chen DJ, Chen K, Delgado A, Rigal C, Bardin C, Schuetz C, Moshous D, Reumaux H, Plenat F, Phan A, Zabot MT, Balme B, Viel S, Bienvenu J, Cochat P, van der Burg M, Caux C, Kemp EH, Rouvet I, Malcus C, Méritet JF, Lim A, Crow YJ, Fabien N, Ménétrier-Caux C, De Villartay JP, Walzer T, Belot A. Mathieu AL, et al. Among authors: belot a. J Allergy Clin Immunol. 2015 Jun;135(6):1578-88.e5. doi: 10.1016/j.jaci.2015.01.040. Epub 2015 Apr 2. J Allergy Clin Immunol. 2015. PMID: 25842288 Free PMC article.
Early-onset hypoparathyroidism and chronic keratitis revealing APECED.
Mezgueldi E, Bertholet-Thomas A, Milazzo S, Morris M, Bacchetta J, Fabien N, Cochat P, Weetman AP, Kemp EH, Belot A. Mezgueldi E, et al. Among authors: belot a. Clin Case Rep. 2015 Oct;3(10):809-13. doi: 10.1002/ccr3.354. Epub 2015 Aug 26. Clin Case Rep. 2015. PMID: 26509012 Free PMC article.
Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children.
Frémond ML, Rodero MP, Jeremiah N, Belot A, Jeziorski E, Duffy D, Bessis D, Cros G, Rice GI, Charbit B, Hulin A, Khoudour N, Caballero CM, Bodemer C, Fabre M, Berteloot L, Le Bourgeois M, Reix P, Walzer T, Moshous D, Blanche S, Fischer A, Bader-Meunier B, Rieux-Laucat F, Crow YJ, Neven B. Frémond ML, et al. Among authors: belot a. J Allergy Clin Immunol. 2016 Dec;138(6):1752-1755. doi: 10.1016/j.jaci.2016.07.015. Epub 2016 Aug 20. J Allergy Clin Immunol. 2016. PMID: 27554814 Free article. No abstract available.
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
390 results