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Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype.
Fayand A, Cescato M, Le Corre L, Terré A, Wacheux M, Zhu YYJ, Melet A, Moreau TRJ, Bodaghi B, Bonnet F, Bronnimann D, Cuisset L, Faria R, Grateau G, Pillet P, Mulders-Manders CM, Neven B, Quartier P, Richer O, Savey L, Truchetet ME, Py BF, Boursier G, Herbeuval JP, Georgin-Lavialle S, Rodero MP. Fayand A, et al. Among authors: zhu yyj. J Allergy Clin Immunol. 2023 Nov;152(5):1303-1311.e1. doi: 10.1016/j.jaci.2023.07.006. Epub 2023 Jul 26. J Allergy Clin Immunol. 2023. PMID: 37506976
Successful treatment of JAK1-associated inflammatory disease.
Fayand A, Hentgen V, Posseme C, Lacout C, Picard C, Moguelet P, Cescato M, Sbeih N, Moreau TRJ, Zhu YYJ, Charuel JL, Corneau A, Deibener-Kaminsky J, Dupuy S, Fusaro M, Hoareau B, Hovnanian A, Langlois V, Le Corre L, Maciel TT, Miskinyte S, Miyara M, Moulinet T, Perret M, Schuhmacher MH, Rignault-Bricard R, Viel S, Vinit A, Soria A, Duffy D, Launay JM, Callebert J, Herbeuval JP, Rodero MP, Georgin-Lavialle S. Fayand A, et al. Among authors: zhu yyj. J Allergy Clin Immunol. 2023 Oct;152(4):972-983. doi: 10.1016/j.jaci.2023.06.004. Epub 2023 Jun 19. J Allergy Clin Immunol. 2023. PMID: 37343845 Free article.