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Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses.
Rodríguez-Ubreva J, Arutyunyan A, Bonder MJ, Del Pino-Molina L, Clark SJ, de la Calle-Fabregat C, Garcia-Alonso L, Handfield LF, Ciudad L, Andrés-León E, Krueger F, Català-Moll F, Rodríguez-Cortez VC, Polanski K, Mamanova L, van Dongen S, Kiselev VY, Martínez-Saavedra MT, Heyn H, Martín J, Warnatz K, López-Granados E, Rodríguez-Gallego C, Stegle O, Kelsey G, Vento-Tormo R, Ballestar E. Rodríguez-Ubreva J, et al. Nat Commun. 2022 Apr 1;13(1):1779. doi: 10.1038/s41467-022-29450-x. Nat Commun. 2022. PMID: 35365635 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.
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
Esteve-Solé A, Sologuren I, Martínez-Saavedra MT, Deyà-Martínez À, Oleaga-Quintas C, Martinez-Barricarte R, Martin-Nalda A, Juan M, Casanova JL, Rodriguez-Gallego C, Alsina L, Bustamante J. Esteve-Solé A, et al. Crit Rev Clin Lab Sci. 2018 May;55(3):184-204. doi: 10.1080/10408363.2018.1444580. Epub 2018 Mar 4. Crit Rev Clin Lab Sci. 2018. PMID: 29502462 Free PMC article. Review.
IgG4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant.
García-Solís B, Tapia-Torres M, García-Soidán A, Hernández-Brito E, Martínez-Saavedra MT, Lorenzo-Salazar JM, García-Hernández S, Van Den Rym A, Mayani K, Govantes-Rodríguez JV, Gervais A, Bastard P, Puel A, Casanova JL, Flores C, Pérez de Diego R, Rodríguez-Gallego C. García-Solís B, et al. Among authors: rodriguez gallego c. J Allergy Clin Immunol. 2024 Apr 4:S0091-6749(24)00330-0. doi: 10.1016/j.jaci.2024.03.018. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 38579942
IFITM3 and severe influenza virus infection. No evidence of genetic association.
López-Rodríguez M, Herrera-Ramos E, Solé-Violán J, Ruíz-Hernández JJ, Borderías L, Horcajada JP, Lerma-Chippirraz E, Rajas O, Briones M, Pérez-González MC, García-Bello MA, López-Granados E, Rodriguez de Castro F, Rodríguez-Gallego C. López-Rodríguez M, et al. Eur J Clin Microbiol Infect Dis. 2016 Nov;35(11):1811-1817. doi: 10.1007/s10096-016-2732-7. Epub 2016 Aug 4. Eur J Clin Microbiol Infect Dis. 2016. PMID: 27492307 Free PMC article.
Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.
Martínez-Saavedra MT, García-Gomez S, Domínguez Acosta A, Mendoza Quintana JJ, Páez JP, García-Reino EJ, Camps G, Martinez-Barricarte R, Itan Y, Boisson B, Sánchez-Ramón S, Regueiro JR, Casanova JL, Rodríguez-Gallego C, Pérez de Diego R. Martínez-Saavedra MT, et al. Clin Immunol. 2016 Dec;173:117-120. doi: 10.1016/j.clim.2016.09.011. Epub 2016 Sep 28. Clin Immunol. 2016. PMID: 27693481
Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency.
Sologuren I, Martínez-Saavedra MT, Solé-Violán J, de Borges de Oliveira E Jr, Betancor E, Casas I, Oleaga-Quintas C, Martínez-Gallo M, Zhang SY, Pestano J, Colobran R, Herrera-Ramos E, Pérez C, López-Rodríguez M, Ruiz-Hernández JJ, Franco N, Ferrer JM, Bilbao C, Andújar-Sánchez M, Álvarez Fernández M, Ciancanelli MJ, Rodríguez de Castro F, Casanova JL, Bustamante J, Rodríguez-Gallego C. Sologuren I, et al. J Clin Immunol. 2018 May;38(4):513-526. doi: 10.1007/s10875-018-0512-0. Epub 2018 Jun 7. J Clin Immunol. 2018. PMID: 29882021 Free PMC article.
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. Enferm Infecc Microbiol Clin (Engl Ed). 2020 Nov;38(9):438-443. doi: 10.1016/j.eimc.2020.07.001. Enferm Infecc Microbiol Clin (Engl Ed). 2020. PMID: 33161954 English, Spanish.
133 results