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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: costanza m. 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.
Transcriptional reprogramming by mutated IRF4 in lymphoma.
Schleussner N, Cauchy P, Franke V, Giefing M, Fornes O, Vankadari N, Assi SA, Costanza M, Weniger MA, Akalin A, Anagnostopoulos I, Bukur T, Casarotto MG, Damm F, Daumke O, Edginton-White B, Gebhardt JCM, Grau M, Grunwald S, Hansmann ML, Hartmann S, Huber L, Kärgel E, Lusatis S, Noerenberg D, Obier N, Pannicke U, Fischer A, Reisser A, Rosenwald A, Schwarz K, Sundararaj S, Weilemann A, Winkler W, Xu W, Lenz G, Rajewsky K, Wasserman WW, Cockerill PN, Scheidereit C, Siebert R, Küppers R, Grosschedl R, Janz M, Bonifer C, Mathas S. Schleussner N, et al. Among authors: costanza m. Nat Commun. 2023 Nov 7;14(1):6947. doi: 10.1038/s41467-023-41954-8. Nat Commun. 2023. PMID: 37935654 Free PMC article.
Super-enhancer-based identification of a BATF3/IL-2R-module reveals vulnerabilities in anaplastic large cell lymphoma.
Liang HC, Costanza M, Prutsch N, Zimmerman MW, Gurnhofer E, Montes-Mojarro IA, Abraham BJ, Prokoph N, Stoiber S, Tangermann S, Lobello C, Oppelt J, Anagnostopoulos I, Hielscher T, Pervez S, Klapper W, Zammarchi F, Silva DA, Garcia KC, Baker D, Janz M, Schleussner N, Fend F, Pospíšilová Š, Janiková A, Wallwitz J, Stoiber D, Simonitsch-Klupp I, Cerroni L, Pileri S, de Leval L, Sibon D, Fataccioli V, Gaulard P, Assaf C, Knörr F, Damm-Welk C, Woessmann W, Turner SD, Look AT, Mathas S, Kenner L, Merkel O. Liang HC, et al. Among authors: costanza m. Nat Commun. 2021 Sep 22;12(1):5577. doi: 10.1038/s41467-021-25379-9. Nat Commun. 2021. PMID: 34552066 Free PMC article.
Concomitant BCORL1 and BRAF Mutations in Vemurafenib-Resistant Melanoma Cells.
Mologni L, Costanza M, Sharma GG, Viltadi M, Massimino L, Citterio S, Purgante S, Raman H, Pirola A, Zucchetti M, Piazza R, Gambacorti-Passerini C. Mologni L, et al. Among authors: costanza m. Neoplasia. 2018 May;20(5):467-477. doi: 10.1016/j.neo.2018.02.009. Epub 2018 Mar 30. Neoplasia. 2018. PMID: 29605720 Free PMC article.
The AP-1-BATF and -BATF3 module is essential for growth, survival and TH17/ILC3 skewing of anaplastic large cell lymphoma.
Schleussner N, Merkel O, Costanza M, Liang HC, Hummel F, Romagnani C, Durek P, Anagnostopoulos I, Hummel M, Jöhrens K, Niedobitek A, Griffin PR, Piva R, Sczakiel HL, Woessmann W, Damm-Welk C, Hinze C, Stoiber D, Gillissen B, Turner SD, Kaergel E, von Hoff L, Grau M, Lenz G, Dörken B, Scheidereit C, Kenner L, Janz M, Mathas S. Schleussner N, et al. Among authors: costanza m. Leukemia. 2018 Sep;32(9):1994-2007. doi: 10.1038/s41375-018-0045-9. Epub 2018 Mar 28. Leukemia. 2018. PMID: 29588546 Free PMC article.
Aberrant Expression of and Cell Death Induction by Engagement of the MHC-II Chaperone CD74 in Anaplastic Large Cell Lymphoma (ALCL).
Wurster KD, Costanza M, Kreher S, Glaser S, Lamprecht B, Schleussner N, Anagnostopoulos I, Hummel M, Jöhrens K, Stein H, Molina A, Diepstra A, Gillissen B, Köchert K, Siebert R, Merkel O, Kenner L, Janz M, Mathas S. Wurster KD, et al. Among authors: costanza m. Cancers (Basel). 2021 Oct 7;13(19):5012. doi: 10.3390/cancers13195012. Cancers (Basel). 2021. PMID: 34638496 Free PMC article.