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Page 1
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL. Zhang SY, et al. Among authors: garcia reino ej. Cell. 2018 Feb 22;172(5):952-965.e18. doi: 10.1016/j.cell.2018.02.019. Cell. 2018. PMID: 29474921 Free PMC article.
Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.
Martínez-Saavedra MT, García-Gomez S, Domínguez Acosta A, Mendoza Quintana JJ, Páez JP, García-Reino EJ, Camps G, Martinez-Barricarte R, Itan Y, Boisson B, Sánchez-Ramón S, Regueiro JR, Casanova JL, Rodríguez-Gallego C, Pérez de Diego R. Martínez-Saavedra MT, et al. Among authors: garcia reino ej. Clin Immunol. 2016 Dec;173:117-120. doi: 10.1016/j.clim.2016.09.011. Epub 2016 Sep 28. Clin Immunol. 2016. PMID: 27693481
Severe influenza pneumonitis in children with inherited TLR3 deficiency.
Lim HK, Huang SXL, Chen J, Kerner G, Gilliaux O, Bastard P, Dobbs K, Hernandez N, Goudin N, Hasek ML, García Reino EJ, Lafaille FG, Lorenzo L, Luthra P, Kochetkov T, Bigio B, Boucherit S, Rozenberg F, Vedrinne C, Keller MD, Itan Y, García-Sastre A, Celard M, Orange JS, Ciancanelli MJ, Meyts I, Zhang Q, Abel L, Notarangelo LD, Snoeck HW, Casanova JL, Zhang SY. Lim HK, et al. Among authors: garcia reino ej. J Exp Med. 2019 Sep 2;216(9):2038-2056. doi: 10.1084/jem.20181621. Epub 2019 Jun 19. J Exp Med. 2019. PMID: 31217193 Free PMC article.
Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency.
Liu Z, Garcia Reino EJ, Harschnitz O, Guo H, Chan YH, Khobrekar NV, Hasek ML, Dobbs K, Rinchai D, Materna M, Matuozzo D, Lee D, Bastard P, Chen J, Lee YS, Kim SK, Zhao S, Amin P, Lorenzo L, Seeleuthner Y, Chevalier R, Mazzola L, Gay C, Stephan JL, Milisavljevic B, Boucherit S, Rozenberg F, Perez de Diego R, Dix RD, Marr N, Béziat V, Cobat A, Aubart M, Abel L, Chabrier S, Smith GA, Notarangelo LD, Mocarski ES, Studer L, Casanova JL, Zhang SY. Liu Z, et al. Among authors: garcia reino ej. Sci Immunol. 2023 Apr 21;8(82):eade2860. doi: 10.1126/sciimmunol.ade2860. Epub 2023 Apr 21. Sci Immunol. 2023. PMID: 37083451 Free PMC article.