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Page 1
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
IRF4 International Consortium; Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY. IRF4 International Consortium, et al. Among authors: schmitt y. Sci Immunol. 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. Epub 2023 Jan 20. Sci Immunol. 2023. PMID: 36662884 Free PMC article.
A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.
Thouenon R, Chentout L, Moreno-Corona N, Poggi L, Lombardi EP, Hoareau B, Schmitt Y, Lagresle-Peyrou C, Bustamante J, André I, Cavazzana M, Durandy A, Casanova JL, Galicier L, Fadlallah J, Fischer A, Kracker S. Thouenon R, et al. Among authors: schmitt y. J Exp Med. 2023 Jun 5;220(6):e20221292. doi: 10.1084/jem.20221292. Epub 2023 Mar 14. J Exp Med. 2023. PMID: 36917008 Free PMC article.
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
Pellé O, Moreno S, Lorenz MR, Riller Q, Fuehrer M, Stolzenberg MC, Maccari ME, Lenoir C, Cheminant M, Hinze T, Hebart HF, König C, Schvartz A, Schmitt Y, Vinit A, Henry E, Touzart A, Villarese P, Isnard P, Neveux N, Landman-Parker J, Picard C, Fouyssac F, Neven B, Grimbacher B, Speckmann C, Fischer A, Latour S, Schwarz K, Ehl S, Rieux-Laucat F, Rensing-Ehl A, Magérus A. Pellé O, et al. Among authors: schmitt y. J Allergy Clin Immunol. 2024 Jan;153(1):203-215. doi: 10.1016/j.jaci.2023.09.028. Epub 2023 Oct 2. J Allergy Clin Immunol. 2024. PMID: 37793571
TARGET: A phase I/II open-label multicenter study to assess safety and efficacy of fexagratinib in patients with relapsed/refractory FGFR fusion-positive glioma.
Picca A, Di Stefano AL, Savatovsky J, Ducray F, Chinot O, Moyal EC, Augereau P, Le Rhun E, Schmitt Y, Rousseaux N, Yepnang AMM, Estellat C, Charbonneau F, Letourneur Q, Branger DF, Meyronet D, Fardeau C, Mokhtari K, Bielle F, Iavarone A, Sanson M. Picca A, et al. Among authors: schmitt y. Neurooncol Adv. 2024 May 20;6(1):vdae068. doi: 10.1093/noajnl/vdae068. eCollection 2024 Jan-Dec. Neurooncol Adv. 2024. PMID: 38813112 Free PMC article.
Stress-activated brain-gut circuits disrupt intestinal barrier integrity and social behaviour.
Russo S, Chan K, Li L, Parise L, Cathomas F, LeClair K, Shimo Y, Lin HY, Durand-de Cuttoli R, Aubry A, Alvarez J, Drescher T, Osman A, Yuan C, Fisher-Foye R, Price G, Schmitt Y, Kaster M, Furtado GC, Lira S, Wang J, Han W, de Araujo I. Russo S, et al. Among authors: schmitt y. Res Sq [Preprint]. 2023 Oct 27:rs.3.rs-3459170. doi: 10.21203/rs.3.rs-3459170/v1. Res Sq. 2023. PMID: 37961128 Free PMC article. Preprint.
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.
Pillay BA, Fusaro M, Gray PE, Statham AL, Burnett L, Bezrodnik L, Kane A, Tong W, Abdo C, Winter S, Chevalier S, Levy R, Masson C, Schmitt Y, Bole C, Malphettes M, Macintyre E, De Villartay JP, Ziegler JB, Smart JM, Peake J, Aghamohammadi A, Hammarström L, Abolhassani H, Picard C, Fischer A, Latour S, Neven B, Tangye SG, Ma CS. Pillay BA, et al. Among authors: schmitt y. J Clin Invest. 2021 Feb 1;131(3):e142434. doi: 10.1172/JCI142434. J Clin Invest. 2021. PMID: 33290277 Free PMC article. Clinical Trial.
IDH-wildtype lower-grade diffuse gliomas: the importance of histological grade and molecular assessment for prognostic stratification.
Berzero G, Di Stefano AL, Ronchi S, Bielle F, Villa C, Guillerm E, Capelle L, Mathon B, Laurenge A, Giry M, Schmitt Y, Marie Y, Idbaih A, Hoang-Xuan K, Delattre JY, Mokhtari K, Sanson M. Berzero G, et al. Among authors: schmitt y. Neuro Oncol. 2021 Jun 1;23(6):955-966. doi: 10.1093/neuonc/noaa258. Neuro Oncol. 2021. PMID: 33173941 Free PMC article.
46 results