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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.
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.
Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.
Dieli-Crimi R, Martínez-Gallo M, Franco-Jarava C, Antolin M, Blasco L, Paramonov I, Semidey ME, Álvarez Fernández A, Molero X, Velásquez J, Martín-Nalda A, Pujol-Borrell R, Colobran R. Dieli-Crimi R, et al. Clin Immunol. 2018 Oct;195:49-58. doi: 10.1016/j.clim.2018.07.015. Epub 2018 Jul 29. Clin Immunol. 2018. PMID: 30063981
Extended immunophenotyping reference values in a healthy pediatric population.
Garcia-Prat M, Álvarez-Sierra D, Aguiló-Cucurull A, Salgado-Perandrés S, Briongos-Sebastian S, Franco-Jarava C, Martin-Nalda A, Colobran R, Montserrat I, Hernández-González M, Pujol-Borrell R, Soler-Palacin P, Martínez-Gallo M. Garcia-Prat M, et al. Cytometry B Clin Cytom. 2019 May;96(3):223-233. doi: 10.1002/cyto.b.21728. Epub 2018 Oct 17. Cytometry B Clin Cytom. 2019. PMID: 30334372 Free article.
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Martin-Nalda A, Cueto-González AM, Argudo-Ramírez A, Marin-Soria JL, Martinez-Gallo M, Colobran R, Plaja A, Castells N, Riviere J, Tizzano EF, Soler-Palacin P. Martin-Nalda A, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e1016. doi: 10.1002/mgg3.1016. Epub 2019 Oct 30. Mol Genet Genomic Med. 2019. PMID: 31663686 Free PMC article.
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
Rudilla F, Franco-Jarava C, Martínez-Gallo M, Garcia-Prat M, Martín-Nalda A, Rivière J, Aguiló-Cucurull A, Mongay L, Vidal F, Solanich X, Irastorza I, Santos-Pérez JL, Tercedor Sánchez J, Cuscó I, Serra C, Baz-Redón N, Fernández-Cancio M, Carreras C, Vagace JM, Garcia-Patos V, Pujol-Borrell R, Soler-Palacín P, Colobran R. Rudilla F, et al. Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019. Front Immunol. 2019. PMID: 31681265 Free PMC article.
77 results