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Page 1
New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.
Bravo García-Morato M, Aracil Santos FJ, Briones AC, Blázquez Moreno A, Del Pozo Maté Á, Domínguez-Soto Á, Beato Merino MJ, Del Pino Molina L, Torres Canizales J, Marin AV, Vallespín García E, Feito Rodríguez M, Plaza López Sabando D, Jiménez-Reinoso A, Mozo Del Castillo Y, Sanz Santaeufemia FJ, de Lucas-Laguna R, Cárdenas PP, Casamayor Polo L, Coronel Díaz M, Valés-Gómez M, Roldán Santiago E, Ferreira Cerdán A, Nevado Blanco J, Corbí ÁL, Reyburn HT, Regueiro JR, López-Granados E, Rodríguez Pena R. Bravo García-Morato M, et al. Among authors: blazquez moreno a. J Allergy Clin Immunol. 2018 May;141(5):1924-1927.e18. doi: 10.1016/j.jaci.2017.12.995. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29408330 No abstract available.
Identification of the first cases of complete CD16A deficiency: Association with persistent EBV infection.
Pérez-Portilla A, Moraru M, Blázquez-Moreno A, Kolb P, Bravo García-Morato M, Ranganath T, Esteso G, Gianelli C, Rodríguez-Pena R, Lozano-Rodríguez R, Torres-Canizales JM, Blish CA, Vales-Gomez M, Hengel H, Vilches C, López-Granados E, Reyburn HT. Pérez-Portilla A, et al. Among authors: blazquez moreno a. J Allergy Clin Immunol. 2020 Apr;145(4):1288-1292. doi: 10.1016/j.jaci.2019.11.049. Epub 2020 Jan 15. J Allergy Clin Immunol. 2020. PMID: 31953104 Free PMC article. No abstract available.
Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247.
Marin AV, Jiménez-Reinoso A, Briones AC, Muñoz-Ruiz M, Aydogmus C, Pasick LJ, Couso J, Mazariegos MS, Alvarez-Prado AF, Blázquez-Moreno A, Cipe FE, Haskologlu S, Dogu F, Morín M, Moreno-Pelayo MA, García-Sánchez F, Gil-Herrera J, Fernández-Malavé E, Reyburn HT, Ramiro AR, Ikinciogullari A, Recio MJ, Regueiro JR, Garcillán B. Marin AV, et al. Among authors: moreno pelayo ma, blazquez moreno a. J Allergy Clin Immunol. 2017 Jan;139(1):347-349.e8. doi: 10.1016/j.jaci.2016.06.020. Epub 2016 Aug 21. J Allergy Clin Immunol. 2017. PMID: 27555457 No abstract available.
Impaired control of multiple viral infections in a family with complete IRF9 deficiency.
Bravo García-Morato M, Calvo Apalategi A, Bravo-Gallego LY, Blázquez Moreno A, Simón-Fuentes M, Garmendia JV, Méndez Echevarría A, Del Rosal Rabes T, Domínguez-Soto Á, López-Granados E, Reyburn HT, Rodríguez Pena R. Bravo García-Morato M, et al. Among authors: blazquez moreno a. J Allergy Clin Immunol. 2019 Jul;144(1):309-312.e10. doi: 10.1016/j.jaci.2019.02.019. Epub 2019 Feb 28. J Allergy Clin Immunol. 2019. PMID: 30826365 Free article. No abstract available.
Natural killer cell hyporesponsiveness and impaired development in a CD247-deficient patient.
Valés-Gómez M, Esteso G, Aydogmus C, Blázquez-Moreno A, Marín AV, Briones AC, Garcillán B, García-Cuesta EM, López Cobo S, Haskologlu S, Moraru M, Cipe F, Dobbs K, Dogu F, Parolini S, Notarangelo LD, Vilches C, Recio MJ, Regueiro JR, Ikinciogullari A, Reyburn HT. Valés-Gómez M, et al. Among authors: blazquez moreno a. J Allergy Clin Immunol. 2016 Mar;137(3):942-5.e4. doi: 10.1016/j.jaci.2015.07.051. Epub 2015 Nov 2. J Allergy Clin Immunol. 2016. PMID: 26542031 No abstract available.
FCGR Genetic Variation in Two Populations From Ecuador Highlands-Extensive Copy-Number Variation, Distinctive Distribution of Functional Polymorphisms, and a Novel, Locally Common, Chimeric FCGR3B/A (CD16B/A) Gene.
Moraru M, Perez-Portilla A, Al-Akioui Sanz K, Blazquez-Moreno A, Arnaiz-Villena A, Reyburn HT, Vilches C. Moraru M, et al. Among authors: blazquez moreno a. Front Immunol. 2021 May 24;12:615645. doi: 10.3389/fimmu.2021.615645. eCollection 2021. Front Immunol. 2021. PMID: 34108956 Free PMC article.
12 results