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Page 1
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G, Esteve-Solé A, Piquer M, González-Navarro EA, Hernandez-Rodriguez J, Laayouni H, González-Roca E, Plaza-Martin AM, Deyà-Martínez Á, Martín-Nalda A, Martínez-Gallo M, García-Prat M, Del Pino-Molina L, Cuscó I, Codina-Solà M, Batlle-Masó L, Solís-Moruno M, Marquès-Bonet T, Bosch E, López-Granados E, Aróstegui JI, Soler-Palacín P, Colobran R, Yagüe J, Alsina L, Juan M, Casals F. de Valles-Ibáñez G, et al. Front Immunol. 2018 May 14;9:636. doi: 10.3389/fimmu.2018.00636. eCollection 2018. Front Immunol. 2018. PMID: 29867916 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
Epigenetic Deregulation in Human Primary Immunodeficiencies.
Campos-Sanchez E, Martínez-Cano J, Del Pino Molina L, López-Granados E, Cobaleda C. Campos-Sanchez E, et al. Trends Immunol. 2019 Jan;40(1):49-65. doi: 10.1016/j.it.2018.11.005. Epub 2018 Nov 30. Trends Immunol. 2019. PMID: 30509895 Free article. Review.
Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies.
Blanco E, Pérez-Andrés M, Arriba-Méndez S, Serrano C, Criado I, Del Pino-Molina L, Silva S, Madruga I, Bakardjieva M, Martins C, Serra-Caetano A, Romero A, Contreras-Sanfeliciano T, Bonroy C, Sala F, Martín A, Bastida JM, Lorente F, Prieto C, Dávila I, Marcos M, Kalina T, Vlkova M, Chovancova Z, Cordeiro AI, Philippé J, Haerynck F, López-Granados E, Sousa AE, van der Burg M, van Dongen JJM, Orfao A; EuroFlow PID group. Blanco E, et al. J Allergy Clin Immunol. 2019 Sep;144(3):809-824. doi: 10.1016/j.jaci.2019.02.017. Epub 2019 Feb 28. J Allergy Clin Immunol. 2019. PMID: 30826363 Free article.
A mutation in the promoter region of BTK causes atypical XLA.
Bravo García-Morato M, Del Pino Molina L, Torres Canizales JM, Del Rosal Rabes T, Méndez Echevarría A, González Martínez B, López-Granados E, Rodríguez Pena R. Bravo García-Morato M, et al. Among authors: del pino molina l. Heliyon. 2020 Sep 14;6(9):e04914. doi: 10.1016/j.heliyon.2020.e04914. eCollection 2020 Sep. Heliyon. 2020. PMID: 32995611 Free PMC article.
21 results