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Page 1
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C. Miot C, et al. Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5. Blood. 2017. PMID: 28679735 Free PMC article.
Clinical Presentation and Outcomes of Kawasaki Disease in Children from Latin America: A Multicenter Observational Study from the REKAMLATINA Network.
Narayan HK, Lizcano A, Lam-Hine T, Ulloa-Gutierrez R, Bainto EV, Garrido-García LM, Estripeaut D, Del Aguila O, Gómez V, Faugier-Fuentes E, Miño-León G, Beltrán S, Cofré F, Chacon-Cruz E, Saltigeral-Simental P, Martínez-Medina L, Dueñas L, Luciani K, Rodríguez-Quiroz FJ, Camacho Moreno G, Viviani T, Alvarez-Olmos MI, Marques HHS, López-Medina E, Pirez MC, Tremoulet AH; Kawasaki Disease REKAMLATINA Network Study Group. Narayan HK, et al. J Pediatr. 2023 Dec;263:113346. doi: 10.1016/j.jpeds.2023.02.001. Epub 2023 Feb 11. J Pediatr. 2023. PMID: 36775190 Free article.
[Chronic granulomatous disease].
Alvarez-Cardona A, Yamazaki-Nakashimada MA, Espinosa-Padilla SE. Alvarez-Cardona A, et al. Rev Alerg Mex. 2009 Sep-Oct;56(5):165-74. Rev Alerg Mex. 2009. PMID: 19999020 Review. Spanish.
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Moncada-Vélez M, Martinez-Barricarte R, Bogunovic D, Kong XF, Blancas-Galicia L, Tirpan C, Aksu G, Vincent QB, Boisson B, Itan Y, Ramírez-Alejo N, Okada S, Kreins AY, Bryant VL, Franco JL, Migaud M, Espinosa-Padilla S, Yamazaki-Nakashimada M, Espinosa-Rosales F, Kutukculer N, Abel L, Bustamante J, Vogt G, Casanova JL, Boisson-Dupuis S. Moncada-Vélez M, et al. Blood. 2013 Oct 3;122(14):2390-401. doi: 10.1182/blood-2013-01-480814. Epub 2013 Aug 20. Blood. 2013. PMID: 23963039 Free PMC article.
Successful stem cell transplantation in a child with chronic granulomatous disease associated with contiguous gene deletion syndrome and complicated by macrophage activation syndrome.
Scheffler-Mendoza SC, Yamazaki-Nakashimada MA, Olaya-Vargas A, Morin-Contreras A, Juárez-Echenique JC, Alcántara-Ortigoza MA, Zamora-Chávez A, Santos-Argumedo L, Blancas-Galicia L. Scheffler-Mendoza SC, et al. Clin Immunol. 2014 Oct;154(2):112-5. doi: 10.1016/j.clim.2014.07.004. Epub 2014 Jul 22. Clin Immunol. 2014. PMID: 25063445 No abstract available.
Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.
Ramírez-Alejo N, Alcántara-Montiel JC, Yamazaki-Nakashimada M, Duran-McKinster C, Valenzuela-León P, Rivas-Larrauri F, Cedillo-Barrón L, Hernández-Rivas R, Santos-Argumedo L. Ramírez-Alejo N, et al. Clin Immunol. 2015 Oct;160(2):163-71. doi: 10.1016/j.clim.2015.06.007. Epub 2015 Jun 24. Clin Immunol. 2015. PMID: 26117626
Clinical Features, Non-Infectious Manifestations and Survival Analysis of 161 Children with Primary Immunodeficiency in Mexico: A Single Center Experience Over two Decades.
Lugo Reyes SO, Ramirez-Vazquez G, Cruz Hernández A, Medina-Torres EA, Ramirez-Lopez AB, España-Cabrera C, Hernandez-Lopez CA, Yamazaki-Nakashimada MA, Espinosa-Rosales FJ, Espinosa-Padilla SE, Murata C. Lugo Reyes SO, et al. J Clin Immunol. 2016 Jan;36(1):56-65. doi: 10.1007/s10875-015-0226-5. Epub 2015 Dec 28. J Clin Immunol. 2016. PMID: 26707787
Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.
Conti F, Lugo-Reyes SO, Blancas Galicia L, He J, Aksu G, Borges de Oliveira E Jr, Deswarte C, Hubeau M, Karaca N, de Suremain M, Guérin A, Baba LA, Prando C, Guerrero GG, Emiroglu M, Öz FN, Yamazaki Nakashimada MA, Gonzalez Serrano E, Espinosa S, Barlan I, Pérez N, Regairaz L, Guidos Morales HE, Bezrodnik L, Di Giovanni D, Dbaibo G, Ailal F, Galicchio M, Oleastro M, Chemli J, Danielian S, Perez L, Ortega MC, Soto Lavin S, Hertecant J, Anal O, Kechout N, Al-Idrissi E, ElGhazali G, Bondarenko A, Chernyshova L, Ciznar P, Herbigneaux RM, Diabate A, Ndaga S, Konte B, Czarna A, Migaud M, Pedraza-Sánchez S, Zaidi MB, Vogt G, Blanche S, Benmustapha I, Mansouri D, Abel L, Boisson-Dupuis S, Mahlaoui N, Bousfiha AA, Picard C, Barbouche R, Al-Muhsen S, Espinosa-Rosales FJ, Kütükçüler N, Condino-Neto A, Casanova JL, Bustamante J. Conti F, et al. J Allergy Clin Immunol. 2016 Jul;138(1):241-248.e3. doi: 10.1016/j.jaci.2015.11.041. Epub 2016 Feb 28. J Allergy Clin Immunol. 2016. PMID: 26936803
139 results