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Page 1
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.
Catastrophic Kawasaki disease or juvenile Polyarteritis nodosa?
Yamazaki-Nakashimada MA, Espinosa-Lopez M, Hernandez-Bautista V, Espinosa-Padilla S, Espinosa-Rosales F. Yamazaki-Nakashimada MA, et al. Semin Arthritis Rheum. 2006 Jun;35(6):349-54. doi: 10.1016/j.semarthrit.2006.02.002. Semin Arthritis Rheum. 2006. PMID: 16765711 Review.
[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.
Increased pro-inflammatory cytokine production after lipopolysaccharide stimulation in patients with X-linked agammaglobulinemia.
González-Serrano ME, Estrada-García I, Mogica-Martínez D, González-Garay A, López-Herrera G, Berrón-Ruiz L, Espinosa-Padilla SE, Yamazaki-Nakashimada MA, Vargas-Hernández A, Santos-Argumedo L, Estrada-Parra SA, Espinosa-Rosales FJ. González-Serrano ME, et al. J Clin Immunol. 2012 Oct;32(5):967-74. doi: 10.1007/s10875-012-9706-z. Epub 2012 Jun 5. J Clin Immunol. 2012. PMID: 22665224
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.
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
[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.
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.
88 results