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96 results

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Page 1
New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.
Bravo García-Morato M, Aracil Santos FJ, Briones AC, Blázquez Moreno A, Del Pozo Maté Á, Domínguez-Soto Á, Beato Merino MJ, Del Pino Molina L, Torres Canizales J, Marin AV, Vallespín García E, Feito Rodríguez M, Plaza López Sabando D, Jiménez-Reinoso A, Mozo Del Castillo Y, Sanz Santaeufemia FJ, de Lucas-Laguna R, Cárdenas PP, Casamayor Polo L, Coronel Díaz M, Valés-Gómez M, Roldán Santiago E, Ferreira Cerdán A, Nevado Blanco J, Corbí ÁL, Reyburn HT, Regueiro JR, López-Granados E, Rodríguez Pena R. Bravo García-Morato M, et al. J Allergy Clin Immunol. 2018 May;141(5):1924-1927.e18. doi: 10.1016/j.jaci.2017.12.995. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29408330 No abstract available.
[Molecular diagnosis of primary immunodeficiencies].
García Rodríguez MC, López Granados E, Cambronero Martínez R, Ferreira Cerdán A, Fontán Casariego G. García Rodríguez MC, et al. Allergol Immunopathol (Madr). 2001 May-Jun;29(3):107-13. doi: 10.1016/s0301-0546(01)79028-3. Allergol Immunopathol (Madr). 2001. PMID: 11434883 Review. Spanish.
Kinase activity and XLA phenotypic variability.
Pérez de Diego R, López Granados E, Ferreira Cerdán A, Fontán Casariego G, García Rodríguez MC. Pérez de Diego R, et al. J Allergy Clin Immunol. 2005 Jan;115(1):205-6. doi: 10.1016/j.jaci.2004.07.059. J Allergy Clin Immunol. 2005. PMID: 15637572 No abstract available.
Hematopoietic stem cell transplantation for CD3δ deficiency.
Marcus N, Takada H, Law J, Cowan MJ, Gil J, Regueiro JR, Plaza Lopez de Sabando D, Lopez-Granados E, Dalal J, Friedrich W, Manfred H, Hanson IC, Grunebaum E, Shearer WT, Roifman CM. Marcus N, et al. J Allergy Clin Immunol. 2011 Nov;128(5):1050-7. doi: 10.1016/j.jaci.2011.05.031. Epub 2011 Jul 16. J Allergy Clin Immunol. 2011. PMID: 21757226 Free PMC article.
Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity.
Torres JM, Martinez-Barricarte R, García-Gómez S, Mazariegos MS, Itan Y, Boisson B, Rholvarez R, Jiménez-Reinoso A, del Pino L, Rodríguez-Pena R, Ferreira A, Hernández-Jiménez E, Toledano V, Cubillos-Zapata C, Díaz-Almirón M, López-Collazo E, Unzueta-Roch JL, Sánchez-Ramón S, Regueiro JR, López-Granados E, Casanova JL, Pérez de Diego R. Torres JM, et al. J Clin Invest. 2014 Dec;124(12):5239-48. doi: 10.1172/JCI77493. Epub 2014 Nov 3. J Clin Invest. 2014. PMID: 25365219 Free PMC article.
Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naïve-to-memory B-cell transition.
Rodríguez-Cortez VC, Del Pino-Molina L, Rodríguez-Ubreva J, Ciudad L, Gómez-Cabrero D, Company C, Urquiza JM, Tegnér J, Rodríguez-Gallego C, López-Granados E, Ballestar E. Rodríguez-Cortez VC, et al. Nat Commun. 2015 Jun 17;6:7335. doi: 10.1038/ncomms8335. Nat Commun. 2015. PMID: 26081581 Free PMC article.
96 results