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Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.
García-García A, Pérez de Diego R, Flores C, Rinchai D, Solé-Violán J, Deyà-Martínez À, García-Solis B, Lorenzo-Salazar JM, Hernández-Brito E, Lanz AL, Moens L, Bucciol G, Almuqamam M, Domachowske JB, Colino E, Santos-Perez JL, Marco FM, Pignata C, Bousfiha A, Turvey SE, Bauer S, Haerynck F, Ocejo-Vinyals JG, Lendinez F, Prader S, Naumann-Bartsch N, Pachlopnik Schmid J, Biggs CM, Hildebrand K, Dreesman A, Cárdenes MÁ, Ailal F, Benhsaien I, Giardino G, Molina-Fuentes A, Fortuny C, Madhavarapu S, Conway DH, Prando C, Schidlowski L, Martínez de Saavedra Álvarez MT, Alfaro R, Rodríguez de Castro F; ESID Registry Working Party; COVID Human Genetic Effort; Meyts I, Hauck F, Puel A, Bastard P, Boisson B, Jouanguy E, Abel L, Cobat A, Zhang Q, Casanova JL, Alsina L, Rodríguez-Gallego C. García-García A, et al. Among authors: hernandez brito e. J Exp Med. 2023 May 1;220(5):e20220170. doi: 10.1084/jem.20220170. Epub 2023 Mar 3. J Exp Med. 2023. PMID: 36880831 Free PMC article.
Alpha-1 antitrypsin deficiency hidden in allegedly normal variants.
Suárez-Lorenzo I, Hernández-Brito E, Almeida-Quintana L, Llanos CG, González-Quevedo N, Carrillo-Díaz T, Rodríguez-Gallego C. Suárez-Lorenzo I, et al. Among authors: hernandez brito e. J Asthma. 2022 Jul;59(7):1372-1375. doi: 10.1080/02770903.2021.1944186. Epub 2021 Jul 13. J Asthma. 2022. PMID: 34152895
Challenges in understanding host genetics and severity of community-acquired pneumonia.
Solé-Violán J, Hernández-Brito E, Valencia-Gallardo JM, Herrera-Ramos E, Borderías L, Briones ML, Rajas O, Freixinet J, Lorente L, Payeras A, Ferreres J, Carbonell N, González-Quevedo N, González-Martín JM, Rodríguez de Castro F, Rodríguez-Gallego C. Solé-Violán J, et al. Among authors: hernandez brito e. ERJ Open Res. 2021 Jan 25;7(1):00745-2020. doi: 10.1183/23120541.00745-2020. eCollection 2021 Jan. ERJ Open Res. 2021. PMID: 33532473 Free PMC article.
Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway.
García-Laorden MI, Hernández-Brito E, Muñoz-Almagro C, Pavlovic-Nesic S, Rúa-Figueroa I, Briones ML, Rajas O, Borderías L, Payeras A, Lorente L, Freixinet J, Ferreres J, Obando I, González-Quevedo N, Rodríguez de Castro F, Solé-Violán J, Rodríguez-Gallego C. García-Laorden MI, et al. Among authors: hernandez brito e. J Clin Immunol. 2020 Jan;40(1):203-210. doi: 10.1007/s10875-019-00714-4. Epub 2019 Dec 11. J Clin Immunol. 2020. PMID: 31828694 Free PMC article.
Immunoglobulin G4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant.
García-Solís B, Tapia-Torres M, García-Soidán A, Hernández-Brito E, Martínez-Saavedra MT, Lorenzo Salazar JM, García-Hernández S, Van Den Rym A, Mayani KM, Govantes-Rodríguez JV, Gervais A, Bastard P, Puel A, Casanova JL, Flores C, Pérez de Diego R, Rodríguez-Gallego C. García-Solís B, et al. Among authors: hernandez brito e. J Allergy Clin Immunol. 2024 Apr 3:S0091-6749(24)00330-0. doi: 10.1016/j.jaci.2024.03.018. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 38579942