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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: thouenon r. 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.
Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.
Thouenon R, Moreno-Corona N, Poggi L, Durandy A, Kracker S. Thouenon R, et al. Front Pediatr. 2021 Jun 25;9:652405. doi: 10.3389/fped.2021.652405. eCollection 2021. Front Pediatr. 2021. PMID: 34249806 Free PMC article. Review.
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith-Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling.
Moreno-Corona N, Chentout L, Poggi L, Thouenon R, Masson C, Parisot M, Mouel LL, Picard C, André I, Cavazzana M, Perrin L, Durandy A, Azarnoush S, Kracker S. Moreno-Corona N, et al. Among authors: thouenon r. Front Pediatr. 2021 Jun 24;9:688022. doi: 10.3389/fped.2021.688022. eCollection 2021. Front Pediatr. 2021. PMID: 34249818 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. 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.
A Case Report of Folliculin-Interacting Protein 1 Deficiency.
Moreno-Corona N, Valagussa A, Thouenon R, Fischer A, Kracker S. Moreno-Corona N, et al. Among authors: thouenon r. J Clin Immunol. 2023 Nov;43(8):1751-1753. doi: 10.1007/s10875-023-01559-8. Epub 2023 Jul 31. J Clin Immunol. 2023. PMID: 37522988 No abstract available.
Human inborn errors of immunity associated with IRF4.
Thouenon R, Kracker S. Thouenon R, et al. Front Immunol. 2023 Sep 22;14:1236889. doi: 10.3389/fimmu.2023.1236889. eCollection 2023. Front Immunol. 2023. PMID: 37809068 Free PMC article. Review.
A combination of cyclophosphamide and interleukin-2 allows CD4+ T cells converted to Tregs to control scurfy syndrome.
Delville M, Bellier F, Leon J, Klifa R, Lizot S, Vinçon H, Sobrino S, Thouenon R, Marchal A, Garrigue A, Olivré J, Charbonnier S, Lagresle-Peyrou C, Amendola M, Schambach A, Gross D, Lamarthée B, Benoist C, Zuber J, André I, Cavazzana M, Six E. Delville M, et al. Among authors: thouenon r. Blood. 2021 Apr 29;137(17):2326-2336. doi: 10.1182/blood.2020009187. Blood. 2021. PMID: 33545713 Free PMC article.
Intracellular Factor H Drives Tumor Progression Independently of the Complement Cascade.
Daugan MV, Revel M, Thouenon R, Dragon-Durey MA, Robe-Rybkine T, Torset C, Merle NS, Noé R, Verkarre V, Oudard SM, Mejean A, Validire P, Cathelineau X, Sanchez-Salas R, Pickering MC, Cremer I, Mansuet-Lupo A, Alifano M, Sautès-Fridman C, Damotte D, Fridman WH, Roumenina LT. Daugan MV, et al. Among authors: thouenon r. Cancer Immunol Res. 2021 Aug;9(8):909-925. doi: 10.1158/2326-6066.CIR-20-0787. Epub 2021 May 26. Cancer Immunol Res. 2021. PMID: 34039652