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103 results

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Page 1
Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.
Alsina L, Colobran R, de Sevilla MF, Català A, Viñas L, Ricart S, Plaza AM, Lois S, Juan M, Pujol-Borrell R, Martinez-Gallo M. Alsina L, et al. Among authors: colobran r. Clin Immunol. 2014 Aug;153(2):292-7. doi: 10.1016/j.clim.2014.04.019. Epub 2014 May 10. Clin Immunol. 2014. PMID: 24825797
Novel Mutations Causing C5 Deficiency in Three North-African Families.
Colobran R, Franco-Jarava C, Martín-Nalda A, Baena N, Gabau E, Padilla N, de la Cruz X, Pujol-Borrell R, Comas D, Soler-Palacín P, Hernández-González M. Colobran R, et al. J Clin Immunol. 2016 May;36(4):388-96. doi: 10.1007/s10875-016-0275-4. Epub 2016 Mar 30. J Clin Immunol. 2016. PMID: 27026170
Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.
Franco-Jarava C, Álvarez de la Campa E, Solanich X, Morandeira-Rego F, Mas-Bosch V, García-Prat M, de la Cruz X, Martín-Nalda A, Soler-Palacín P, Hernández-González M, Colobran R. Franco-Jarava C, et al. Among authors: colobran r. J Clin Immunol. 2017 Nov;37(8):781-789. doi: 10.1007/s10875-017-0447-x. Epub 2017 Sep 23. J Clin Immunol. 2017. PMID: 28942469
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. Among authors: colobran r. 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. Among authors: colobran r. 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. Among authors: colobran r. Clin Immunol. 2018 Oct;195:49-58. doi: 10.1016/j.clim.2018.07.015. Epub 2018 Jul 29. Clin Immunol. 2018. PMID: 30063981
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
Mensa-Vilaró A, Bravo García-Morato M, de la Calle-Martin O, Franco-Jarava C, Martínez-Saavedra MT, González-Granado LI, González-Roca E, Fuster JL, Alsina L, Mutchinick OM, Balderrama-Rodríguez A, Ramos E, Modesto C, Mesa-Del-Castillo P, Ortego-Centeno N, Clemente D, Souto A, Palmou N, Remesal A, Leslie KS, Gómez de la Fuente E, Yadira Bravo Gallego L, Campistol JM, Dhouib NG, Bejaoui M, Dutra LA, Terreri MT, Mosquera C, González T, Cañellas J, García-Ruiz de Morales JM, Wouters CH, Bosque MT, Cham WT, Jiménez-Treviño S, de Inocencio J, Bloomfield M, Pérez de Diego R, Martínez-Pomar N, Rodríguez-Pena R, González-Santesteban C, Soler-Palacín P, Casals F, Yagüe J, Allende LM, Rodríguez-Gallego JC, Colobran R, Martínez-Martínez L, López-Granados E, Aróstegui JI. Mensa-Vilaró A, et al. Among authors: colobran r. J Allergy Clin Immunol. 2019 Jan;143(1):359-368. doi: 10.1016/j.jaci.2018.09.009. Epub 2018 Sep 29. J Allergy Clin Immunol. 2019. PMID: 30273710 Free article. Clinical Trial.
103 results