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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.
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Franco-Jarava C, Wang H, Martin-Nalda A, Alvarez SD, García-Prat M, Bodet D, García-Patos V, Plaja A, Rudilla F, Rodriguez-Sureda V, García-Latorre L, Aksentijevich I, Colobran R, Soler-Palacín P. Franco-Jarava C, et al. Among authors: rudilla f. Clin Immunol. 2018 Jun;191:44-51. doi: 10.1016/j.clim.2018.03.009. Epub 2018 Mar 20. Clin Immunol. 2018. PMID: 29572183
Regulation of TSHR Expression in the Thyroid and Thymus May Contribute to TSHR Tolerance Failure in Graves' Disease Patients via Two Distinct Mechanisms.
Marín-Sánchez A, Álvarez-Sierra D, González O, Lucas-Martin A, Sellés-Sánchez A, Rudilla F, Enrich E, Colobran R, Pujol-Borrell R. Marín-Sánchez A, et al. Among authors: rudilla f. Front Immunol. 2019 Jul 18;10:1695. doi: 10.3389/fimmu.2019.01695. eCollection 2019. Front Immunol. 2019. PMID: 31379878 Free PMC article.
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.
Martín-Nalda A, Fortuny C, Rey L, Bunney TD, Alsina L, Esteve-Solé A, Bull D, Anton MC, Basagaña M, Casals F, Deyá A, García-Prat M, Gimeno R, Juan M, Martinez-Banaclocha H, Martinez-Garcia JJ, Mensa-Vilaró A, Rabionet R, Martin-Begue N, Rudilla F, Yagüe J, Estivill X, García-Patos V, Pujol RM, Soler-Palacín P, Katan M, Pelegrín P, Colobran R, Vicente A, Arostegui JI. Martín-Nalda A, et al. Among authors: rudilla f. J Clin Immunol. 2020 Oct;40(7):987-1000. doi: 10.1007/s10875-020-00794-7. Epub 2020 Jul 15. J Clin Immunol. 2020. PMID: 32671674 Free PMC article.
Failure of Viral-Specific T Cells Administered in Pre-transplant Settings in Children with Inborn Errors of Immunity.
Alonso L, Méndez-Echevarría A, Rudilla F, Mozo Y, Soler-Palacin P, Sisinni L, Bueno D, Riviere J, de Paz R, Sánchez-Zapardiel E, Querol S, Rodriguez-Pena R, López-Granados E, Gimeno R, Díaz de Heredia C, Pérez-Martínez A. Alonso L, et al. Among authors: rudilla f. J Clin Immunol. 2021 May;41(4):748-755. doi: 10.1007/s10875-020-00961-w. Epub 2021 Jan 18. J Clin Immunol. 2021. PMID: 33462728 Review.
Analysis of the Spanish CCR5-∆32 inventory of cord blood units: lower cell counts in homozygous donors.
Enrich E, Vidal F, Sánchez-Gordo F, Gómez-Zumaquero JM, Balas A, Rudilla F, Barea L, Castro A, Larrea L, Perez-Vaquero MA, Prat I, Querol S, Garrido G, Matesanz R, Carreras E, Duarte RF. Enrich E, et al. Among authors: rudilla f. Bone Marrow Transplant. 2018 Jun;53(6):741-748. doi: 10.1038/s41409-018-0114-8. Epub 2018 Feb 6. Bone Marrow Transplant. 2018. PMID: 29410548 Free article.
27 results