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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.
Kawasaki Disease Associated with SARS-CoV2 in a Pair of Triplets.
Gamez-Gonzalez LB, Xochihua-Díaz L, Ramirez-Lopez M, Colmenero-Rascon M, Yokoyama-Rebollar E, Hernández-Santiago I, Bojalil-Cabildo A, Yamazaki-Nakashimada MA. Gamez-Gonzalez LB, et al. Among authors: yamazaki nakashimada ma. Pediatr Allergy Immunol Pulmonol. 2023 Sep;36(3):119-121. doi: 10.1089/ped.2023.0045. Epub 2023 Jul 19. Pediatr Allergy Immunol Pulmonol. 2023. PMID: 37466470
Presentation and Outcomes of Kawasaki Disease in Latin American Infants Younger Than 6 Months of Age: A Multinational Multicenter Study of the REKAMLATINA Network.
Moreno E, Garcia SD, Bainto E, Salgado AP, Parish A, Rosellini BD, Ulloa-Gutierrez R, Garrido-Garcia LM, Dueñas L, Estripeaut D, Luciani K, Rodríguez-Quiroz FJ, Del Aguila O, Camacho-Moreno G, Gómez V, Viviani T, Alvarez-Olmos MI, de Souza Marques HH, Faugier-Fuentes E, Saltigeral-Simental P, López-Medina E, Miño-León G, Beltrán S, Martínez-Medina L, Pirez MC, Cofré F, Tremoulet AH; The REKAMLATINA-2 Study Group Investigators. Moreno E, et al. Front Pediatr. 2020 Jul 16;8:384. doi: 10.3389/fped.2020.00384. eCollection 2020. Front Pediatr. 2020. PMID: 32766186 Free PMC article.
Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.
Castano-Jaramillo LM, Larrauri FR, Scheffler-Mendoza SC, Gutierrez-Hernandez A, Ogando JCB, Colin P, Cisneros MO, Rajme-López S, Medina-Torres EA, Ruiz LB, Rodriguez-Lozano AL, Padilla SEE, Yamazaki-Nakashimada MA, Reyes SOL. Castano-Jaramillo LM, et al. Among authors: yamazaki nakashimada ma. J Genet. 2023;102:53. J Genet. 2023. PMID: 38073170 Free 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.
[Wiskott-Aldrich syndrome].
Román Jiménez MG, Yamazaki Nakashimada MA, Blancas Galicia L. Román Jiménez MG, et al. Rev Alerg Mex. 2010 Sep-Oct;57(5):171-5. Rev Alerg Mex. 2010. PMID: 21854728 Spanish.
139 results