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Page 1
Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions.
Martin-Fernandez M, Bravo García-Morato M, Gruber C, Murias Loza S, Malik MNH, Alsohime F, Alakeel A, Valdez R, Buta S, Buda G, Marti MA, Larralde M, Boisson B, Feito Rodriguez M, Qiu X, Chrabieh M, Al Ayed M, Al Muhsen S, Desai JV, Ferre EMN, Rosenzweig SD, Amador-Borrero B, Bravo-Gallego LY, Olmer R, Merkert S, Bret M, Sood AK, Al-Rabiaah A, Temsah MH, Halwani R, Hernandez M, Pessler F, Casanova JL, Bustamante J, Lionakis MS, Bogunovic D. Martin-Fernandez M, et al. Among authors: bravo garcia morato m. Cell Rep. 2020 May 12;31(6):107633. doi: 10.1016/j.celrep.2020.107633. Cell Rep. 2020. PMID: 32402279 Free PMC article.
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.
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.
Del Pino-Molina L, Bravo Gallego LY, Soto Serrano Y, Reche Yebra K, Marty Lobo J, González Martínez B, Bravo García-Morato M, Rodríguez Pena R, van der Burg M, López Granados E. Del Pino-Molina L, et al. Among authors: bravo garcia morato m. Front Immunol. 2023 Apr 24;14:1095123. doi: 10.3389/fimmu.2023.1095123. eCollection 2023. Front Immunol. 2023. PMID: 37197664 Free PMC article.
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.
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
17 results