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Page 1
Tuberculosis in otherwise healthy adults with inherited TNF deficiency.
Arias AA, Neehus AL, Ogishi M, Meynier V, Krebs A, Lazarov T, Lee AM, Arango-Franco CA, Yang R, Orrego J, Corcini Berndt M, Rojas J, Li H, Rinchai D, Erazo-Borrás L, Han JE, Pillay B, Ponsin K, Chaldebas M, Philippot Q, Bohlen J, Rosain J, Le Voyer T, Janotte T, Amarajeeva K, Soudée C, Brollo M, Wiegmann K, Marquant Q, Seeleuthner Y, Lee D, Lainé C, Kloos D, Bailey R, Bastard P, Keating N, Rapaport F, Khan T, Moncada-Vélez M, Carmona MC, Obando C, Alvarez J, Cataño JC, Martínez-Rosado LL, Sanchez JP, Tejada-Giraldo M, L'Honneur AS, Agudelo ML, Perez-Zapata LJ, Arboleda DM, Alzate JF, Cabarcas F, Zuluaga A, Pelham SJ, Ensser A, Schmidt M, Velásquez-Lopera MM, Jouanguy E, Puel A, Krönke M, Ghirardello S, Borghesi A, Pahari S, Boisson B, Pittaluga S, Ma CS, Emile JF, Notarangelo LD, Tangye SG, Marr N, Lachmann N, Salvator H, Schlesinger LS, Zhang P, Glickman MS, Nathan CF, Geissmann F, Abel L, Franco JL, Bustamante J, Casanova JL, Boisson-Dupuis S. Arias AA, et al. Among authors: schmidt m. Nature. 2024 Sep;633(8029):417-425. doi: 10.1038/s41586-024-07866-3. Epub 2024 Aug 28. Nature. 2024. PMID: 39198650 Free PMC article.
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.
Bohlen J, Zhou Q, Philippot Q, Ogishi M, Rinchai D, Nieminen T, Seyedpour S, Parvaneh N, Rezaei N, Yazdanpanah N, Momenilandi M, Conil C, Neehus AL, Schmidt C, Arango-Franco CA, Voyer TL, Khan T, Yang R, Puchan J, Erazo L, Roiuk M, Vatovec T, Janda Z, Bagarić I, Materna M, Gervais A, Li H, Rosain J, Peel JN, Seeleuthner Y, Han JE, L'Honneur AS, Moncada-Vélez M, Martin-Fernandez M, Horesh ME, Kochetkov T, Schmidt M, AlShehri MA, Salo E, Saxen H, ElGhazali G, Yatim A, Soudée C, Sallusto F, Ensser A, Marr N, Zhang P, Bogunovic D, Cobat A, Shahrooei M, Béziat V, Abel L, Wang X, Boisson-Dupuis S, Teleman AA, Bustamante J, Zhang Q, Casanova JL. Bohlen J, et al. Among authors: schmidt m, schmidt c. Cell. 2023 Nov 9;186(23):5114-5134.e27. doi: 10.1016/j.cell.2023.09.024. Epub 2023 Oct 23. Cell. 2023. PMID: 37875108 Free PMC article.
Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood.
Byun M, Ma CS, Akçay A, Pedergnana V, Palendira U, Myoung J, Avery DT, Liu Y, Abhyankar A, Lorenzo L, Schmidt M, Lim HK, Cassar O, Migaud M, Rozenberg F, Canpolat N, Aydogan G, Fleckenstein B, Bustamante J, Picard C, Gessain A, Jouanguy E, Cesarman E, Olivier M, Gros P, Abel L, Croft M, Tangye SG, Casanova JL. Byun M, et al. Among authors: schmidt m. J Exp Med. 2013 Aug 26;210(9):1743-59. doi: 10.1084/jem.20130592. Epub 2013 Jul 29. J Exp Med. 2013. PMID: 23897980 Free PMC article.
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.
Martínez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramírez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Aytekin C, Mansouri D, Bryant VL, Jabot-Hanin F, Deswarte C, Nieto-Patlán A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissmann F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL. Martínez-Barricarte R, et al. Among authors: schmidt m. Sci Immunol. 2018 Dec 21;3(30):eaau6759. doi: 10.1126/sciimmunol.aau6759. Sci Immunol. 2018. PMID: 30578351 Free PMC article.
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
Crequer A, Troeger A, Patin E, Ma CS, Picard C, Pedergnana V, Fieschi C, Lim A, Abhyankar A, Gineau L, Mueller-Fleckenstein I, Schmidt M, Taieb A, Krueger J, Abel L, Tangye SG, Orth G, Williams DA, Casanova JL, Jouanguy E. Crequer A, et al. Among authors: schmidt m. J Clin Invest. 2012 Sep;122(9):3239-47. doi: 10.1172/JCI62949. Epub 2012 Aug 1. J Clin Invest. 2012. PMID: 22850876 Free PMC article.
Conquering Overtreatment of DCIS: Lessons from PRECISION.
Bhattacharjee P, Lips EH, Sawyer EJ, Hwang ES, Thompson AM, Wesseling J; Cancer Grand Challenges PRECISION Consortium. Bhattacharjee P, et al. Cancer Discov. 2025 Jan 13;15(1):28-33. doi: 10.1158/2159-8290.CD-24-1201. Cancer Discov. 2025. PMID: 39801240
Right Ventricular Injury Definition and Management in Veno-Venous Extracorporeal Membrane Oxygenation.
Dugar SP, Sato R, Charlton M, Hasegawa D, Antonini MV, Nasa P, Yusuff H, Schultz MJ, Harnegie MP, Ramanathan K, Shekar K, Schmidt M, Zochios V, Duggal A; Protecting the Right Ventricle Network (PRORVnet). Dugar SP, et al. Among authors: schmidt m. ASAIO J. 2025 Jan 7. doi: 10.1097/MAT.0000000000002369. Online ahead of print. ASAIO J. 2025. PMID: 39787611
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