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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. 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.
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
Bravo García-Morato M, García-Miñaúr S, Molina Garicano J, Santos Simarro F, Del Pino Molina L, López-Granados E, Ferreira Cerdán A, Rodríguez Pena R. Bravo García-Morato M, et al. Clin Immunol. 2017 Jun;179:77-80. doi: 10.1016/j.clim.2017.03.004. Epub 2017 Mar 14. Clin Immunol. 2017. PMID: 28302518
Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16.
Bravo García-Morato M, Nevado J, González-Granado LI, Sastre Urgelles A, Rodríguez Pena R, Ferreira Cerdán A. Bravo García-Morato M, et al. J Allergy Clin Immunol Pract. 2017 Jul-Aug;5(4):1146-1148. doi: 10.1016/j.jaip.2017.01.018. Epub 2017 Mar 21. J Allergy Clin Immunol Pract. 2017. PMID: 28341171 No abstract available.
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. 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.
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. 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.
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. 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.
A mutation in the promoter region of BTK causes atypical XLA.
Bravo García-Morato M, Del Pino Molina L, Torres Canizales JM, Del Rosal Rabes T, Méndez Echevarría A, González Martínez B, López-Granados E, Rodríguez Pena R. Bravo García-Morato M, et al. Heliyon. 2020 Sep 14;6(9):e04914. doi: 10.1016/j.heliyon.2020.e04914. eCollection 2020 Sep. Heliyon. 2020. PMID: 32995611 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. Among authors: bravo garcia morato m. 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.
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. Among authors: bravo garcia morato m. J Allergy Clin Immunol Pract. 2020 Nov-Dec;8(10):3342-3347. doi: 10.1016/j.jaip.2020.05.008. J Allergy Clin Immunol Pract. 2020. PMID: 33161963
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Fernández L, Casamayor Polo L, Bravo García-Morato M, Enguita Valls AB, Ruiz-Bravo E, Muñoz-Cabello P, Ibáñez K, Rodríguez-Laguna L, Martín-Arenas R, Ortega M, Palomares-Bralo M, Del Pozo Á, García-Guereta L, García-Miñaúr S, Lapunzina P, Vallespín E. Fernández L, et al. Among authors: bravo garcia morato m. Clin Genet. 2021 Mar;99(3):481-483. doi: 10.1111/cge.13884. Epub 2020 Nov 23. Clin Genet. 2021. PMID: 33226119 No abstract available.
18 results