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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.
Efficacy and Safety of Interferon-Gamma in Chronic Granulomatous Disease: a Systematic Review and Meta-analysis.
Lugo Reyes SO, González Garay A, González Bobadilla NY, Rivera Lizárraga DA, Madrigal Paz AC, Medina-Torres EA, Álvarez Cardona A, Galindo Ortega JL, Solís Galicia C, Espinosa-Padilla SE, Murata C. Lugo Reyes SO, et al. J Clin Immunol. 2023 Apr;43(3):578-584. doi: 10.1007/s10875-022-01391-6. Epub 2022 Nov 16. J Clin Immunol. 2023. PMID: 36385358
[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.
[An overview of primary immunodeficiency in Mexico].
Coria Ramírez E, Espinosa Padilla S, Espinosa Rosales F, Vargas Camaño ME, Blancas Galicia L. Coria Ramírez E, et al. Rev Alerg Mex. 2010 Sep-Oct;57(5):159-63. Rev Alerg Mex. 2010. PMID: 21854726 Review. Spanish.
[Basics of primary immunodeficiencies].
Hernández-Martínez C, Espinosa-Rosales F, Espinosa-Padilla SE, Hernández-Martínez AR, Blancas-Galicia L. Hernández-Martínez C, et al. Rev Alerg Mex. 2016 Apr-Jun;63(2):180-9. doi: 10.29262/ram.v63i2.146. Rev Alerg Mex. 2016. PMID: 27174761 Spanish.
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.
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.
Rosain J, Oleaga-Quintas C, Deswarte C, Verdin H, Marot S, Syridou G, Mansouri M, Mahdaviani SA, Venegas-Montoya E, Tsolia M, Mesdaghi M, Chernyshova L, Stepanovskiy Y, Parvaneh N, Mansouri D, Pedraza-Sánchez S, Bondarenko A, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Nieto-Patlán A, Kerner G, Lambert N, Jacques C, Corvilain E, Migaud M, Grandin V, Herrera MT, Jabot-Hanin F, Boisson-Dupuis S, Picard C, Nitschke P, Puel A, Tores F, Abel L, Blancas-Galicia L, De Baere E, Bole-Feysot C, Casanova JL, Bustamante J. Rosain J, et al. J Clin Immunol. 2018 Jul;38(5):617-627. doi: 10.1007/s10875-018-0527-6. Epub 2018 Jul 11. J Clin Immunol. 2018. PMID: 29995221 Free PMC article. Review.
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Staines Boone AT, Chinn IK, Alaez-Versón C, Yamazaki-Nakashimada MA, Carrillo-Sánchez K, García-Cruz MLH, Poli MC, González Serrano ME, Medina Torres EA, Muzquiz Zermeño D, Forbes LR, Espinosa-Rosales FJ, Espinosa-Padilla SE, Orange JS, Lugo Reyes SO. Staines Boone AT, et al. Front Pediatr. 2019 Jan 21;6:426. doi: 10.3389/fped.2018.00426. eCollection 2018. Front Pediatr. 2019. PMID: 30719430 Free PMC article.
Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease.
López-Hernández I, Deswarte C, Alcantara-Ortigoza MÁ, Saez-de-Ocariz MDM, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Bustamante J, Blancas-Galicia L. López-Hernández I, et al. Iran J Allergy Asthma Immunol. 2019 Aug 17;18(4):447-451. doi: 10.18502/ijaai.v18i4.1425. Iran J Allergy Asthma Immunol. 2019. PMID: 31522453 Free article. Review.
95 results