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Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies.
Cordero E, Goycochea-Valdivia W, Mendez-Echevarria A, Allende LM, Alsina L, Bravo García-Morato M, Gil-Herrera J, Gudiol C, Len-Abad O, López-Medrano F, Moreno-Pérez D, Muñoz P, Olbrich P, Sánchez-Ramón S, Soler-Palacín P, Aguilera Cros C, Arostegui JI, Badell Serra I, Carbone J, Fortún J, Gonzalez-Granado LI, López-Granados E, Lucena JM, Parody R, Ramakers J, Regueiro JR, Rivière JG, Roca-Oporto C, Rodríguez Pena R, Santos-Pérez JL, Rodríguez-Gallego C, Neth O. Cordero E, et al. J Allergy Clin Immunol Pract. 2020 Nov-Dec;8(10):3342-3347. doi: 10.1016/j.jaip.2020.05.008. J Allergy Clin Immunol Pract. 2020. PMID: 33161963
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.
Dissecting Epigenetic Dysregulation of Primary Antibody Deficiencies.
Rodríguez-Cortez VC, Del Pino-Molina L, Rodríguez-Ubreva J, López-Granados E, Ballestar E. Rodríguez-Cortez VC, et al. J Clin Immunol. 2016 May;36 Suppl 1:48-56. doi: 10.1007/s10875-016-0267-4. Epub 2016 Mar 17. J Clin Immunol. 2016. PMID: 26984849 Review.
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
Bravo García-Morato M, García-Miñaúr S, Molina Garicano J, Santos Simarro F, Del Pino Molina L, López-Granados E, Ferreira Cerdán A, Rodríguez Pena R. Bravo García-Morato M, et al. Clin Immunol. 2017 Jun;179:77-80. doi: 10.1016/j.clim.2017.03.004. Epub 2017 Mar 14. Clin Immunol. 2017. PMID: 28302518
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.
94 results