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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: poggi l. 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: poggi l. 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.
Current recommendations for procedure selection in class I and II obesity developed by an expert modified Delphi consensus.
Kermansaravi M, Chiappetta S, Parmar C, Shikora SA, Prager G, LaMasters T, Ponce J, Kow L, Nimeri A, Kothari SN, Aarts E, Abbas SI, Aly A, Aminian A, Bashir A, Behrens E, Billy H, Carbajo MA, Clapp B, Chevallier JM, Cohen RV, Dargent J, Dillemans B, Faria SL, Neto MG, Garneau PY, Gawdat K, Haddad A, ElFawal MH, Higa K, Himpens J, Husain F, Hutter MM, Kasama K, Kassir R, Khan A, Khoursheed M, Kroh M, Kurian MS, Lee WJ, Loi K, Mahawar K, McBride CL, Almomani H, Melissas J, Miller K, Misra M, Musella M, Northup CJ, O'Kane M, Papasavas PK, Palermo M, Peterson RM, Peterli R, Poggi L, Pratt JSA, Alqahtani A, Ramos AC, Rheinwalt K, Ribeiro R, Rogers AM, Safadi B, Salminen P, Santoro S, Sann N, Scott JD, Shabbir A, Sogg S, Stenberg E, Suter M, Torres A, Ugale S, Vilallonga R, Wang C, Weiner R, Zundel N, Angrisani L, De Luca M. Kermansaravi M, et al. Among authors: poggi l. Sci Rep. 2024 Feb 11;14(1):3445. doi: 10.1038/s41598-024-54141-6. Sci Rep. 2024. PMID: 38341469 Free PMC article.
253 results