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Page 1
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Zhang P, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, Pérez de Diego R, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Lermine A, Vidaud M, Boland… See abstract for full author list ➔ Matuozzo D, et al. Among authors: perez de diego r. medRxiv [Preprint]. 2022 Oct 25:2022.10.22.22281221. doi: 10.1101/2022.10.22.22281221. medRxiv. 2022. PMID: 36324795 Free PMC article. Updated. Preprint.
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.
Bastard P, Gervais A, Taniguchi M, Saare L, Särekannu K, Le Voyer T, Philippot Q, Rosain J, Bizien L, Asano T, Garcia-Prat M, Parra-Martínez A, Migaud M, Tsumura M, Conti F, Belot A, Rivière JG, Morio T, Tanaka J, Javouhey E, Haerynck F, Duvlis S, Ozcelik T, Keles S, Tandjaoui-Lambiotte Y, Escoda S, Husain M, Pan-Hammarström Q, Hammarström L, Ahlijah G, Abi Haidar A, Soudee C, Arseguel V, Abolhassani H, Sahanic S, Tancevski I, Nukui Y, Hayakawa S, Chrousos GP, Michos A, Tatsi EB, Filippatos F, Rodriguez-Palmero A, Troya J, Tipu I, Meyts I, Roussel L, Ostrowski SR, Schidlowski L, Prando C, Condino-Neto A, Cheikh N, Bousfiha AA, El Bakkouri J; COVID Clinicians; GEN-COVID Study Group; COVID Human Genetic Effort; Peterson P, Pujol A, Lévy R, Quartier P, Vinh DC, Boisson B, Béziat V, Zhang SY, Borghesi A, Pession A, Andreakos E, Marr N, Mentis AA, Mogensen TH, Rodríguez-Gallego C, Soler-Palacin P, Colobran R, Tillmann V, Neven B, Trouillet-Assant S, Brodin P, Abel L, Jouanguy E, Zhang Q, Martinón-Torres F, Salas A, Gómez-Carballa A, Gonzalez-Granado LI, Kisand K, Okada S, Puel A, Cobat A, Casanova JL. Bastard P, et al. J Exp Med. 2024 Feb 5;221(2):e20231353. doi: 10.1084/jem.20231353. Epub 2024 Jan 4. J Exp Med. 2024. PMID: 38175961 Free PMC article.
Lack of Specific Immune Response after Five Doses of mRNA SARS-CoV-2 Vaccine in a Patient with CD4+ T-Cell Lymphopenia but Preserved Responses to CMV.
Alba-Cano T, Fernández-Cruz E, Alonso R, Muñoz-Gómez S, Pérez de Diego R, García Martínez E, Sánchez-Mateos P, Navarro Caspistegui J, Martín López M, Gil-Herrera J. Alba-Cano T, et al. Among authors: perez de diego r. Vaccines (Basel). 2024 Apr 6;12(4):386. doi: 10.3390/vaccines12040386. Vaccines (Basel). 2024. PMID: 38675768 Free PMC article.
IgG4-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 K, 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: perez de diego r. J Allergy Clin Immunol. 2024 Apr 4:S0091-6749(24)00330-0. doi: 10.1016/j.jaci.2024.03.018. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 38579942
Exploring gastric cancer genetics: A turning point in common variable immunodeficiency.
Sánchez-Ramón S, Fuentes-Antrás J, Rider NL, Pérez-Segura P, de la Fuente-Muñoz E, Fernández-Arquero M, Neves E, Pérez de Diego R, Ocaña A, Guevara-Hoyer K. Sánchez-Ramón S, et al. Among authors: perez de diego r. J Allergy Clin Immunol Glob. 2023 Dec 23;3(2):100203. doi: 10.1016/j.jacig.2023.100203. eCollection 2024 May. J Allergy Clin Immunol Glob. 2023. PMID: 38283086 Free PMC article.
Inherited Human BCL10 Deficiencies.
Alsaidalani AA, García-Solís B, Bukhari E, Van Den Rym A, López-Collazo E, Sánchez-Ramón S, Corvillo F, López-Lera A, de Andrés A, Martínez-Barricarte R, Perez de Diego R. Alsaidalani AA, et al. Among authors: perez de diego r. J Clin Immunol. 2023 Dec 22;44(1):13. doi: 10.1007/s10875-023-01619-z. J Clin Immunol. 2023. PMID: 38129623 Review.
Results of phase 2 randomized multi-center study to evaluate the safety and efficacy of infusion of memory T cells as adoptive therapy in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pneumonia and/or lymphopenia (RELEASE NCT04578210).
Ferreras C, Hernández-Blanco C, Martín-Quirós A, Al-Akioui-Sanz K, Mora-Rillo M, Ibáñez F, Díaz-Almirón M, Cano-Ochando J, Lozano-Ojalvo D, Jiménez-González M, Goterris R, Sánchez-Zapardiel E, de Paz R, Guerra-García P, Queiruga-Parada J, Molina P, Briones ML, Ruz-Caracuel B, Borobia AM, Carcas AJ, Planelles D, Vicario JL, Moreno MÁ, Balas A, Llano M, Llorente A, Del Balzo Á, Cañada C, García MÁ, Calvin ME, Arenas I, Pérez de Diego R, Eguizábal C, Soria B, Solano C, Pérez-Martínez A. Ferreras C, et al. Among authors: perez de diego r. Cytotherapy. 2024 Jan;26(1):25-35. doi: 10.1016/j.jcyt.2023.10.002. Epub 2023 Oct 29. Cytotherapy. 2024. PMID: 37897472 Clinical Trial.
The prognostic impact of SIGLEC5-induced impairment of CD8+ T cell activation in sepsis.
Lozano-Rodríguez R, Avendaño-Ortíz J, Montalbán-Hernández K, Ruiz-Rodríguez JC, Ferrer R, Martín-Quirós A, Maroun-Eid C, González-López JJ, Fàbrega A, Terrón-Arcos V, Gutiérrez-Fernández M, Alonso-López E, Cubillos-Zapata C, Fernández-Velasco M, Pérez de Diego R, Pelegrin P, García-Palenciano C, Cueto FJ, Del Fresno C, López-Collazo E. Lozano-Rodríguez R, et al. Among authors: perez de diego r. EBioMedicine. 2023 Nov;97:104841. doi: 10.1016/j.ebiom.2023.104841. Epub 2023 Oct 25. EBioMedicine. 2023. PMID: 37890368 Free PMC article.
Inherited human ezrin deficiency impairs adaptive immunity.
García-Solís B, Van Den Rym A, Martinez-Martínez L, Franco T, Pérez-Caraballo JJ, Markle J, Cubillos-Zapata C, Marín AV, Recio MJ, Regueiro JR, Navarro-Zapata A, Mestre-Durán C, Ferreras C, Martín Cotázar C, Mena R, de la Calle-Fabregat C, López-Lera A, Fernández Arquero M, Pérez-Martínez A, López-Collazo E, Sánchez-Ramón S, Casanova JL, Martínez-Barricarte R, de la Calle-Martín O, Pérez de Diego R. García-Solís B, et al. Among authors: perez de diego r. J Allergy Clin Immunol. 2023 Oct;152(4):997-1009.e11. doi: 10.1016/j.jaci.2023.05.022. Epub 2023 Jun 8. J Allergy Clin Immunol. 2023. PMID: 37301410 Free PMC article.
Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency.
Liu Z, Garcia Reino EJ, Harschnitz O, Guo H, Chan YH, Khobrekar NV, Hasek ML, Dobbs K, Rinchai D, Materna M, Matuozzo D, Lee D, Bastard P, Chen J, Lee YS, Kim SK, Zhao S, Amin P, Lorenzo L, Seeleuthner Y, Chevalier R, Mazzola L, Gay C, Stephan JL, Milisavljevic B, Boucherit S, Rozenberg F, Perez de Diego R, Dix RD, Marr N, Béziat V, Cobat A, Aubart M, Abel L, Chabrier S, Smith GA, Notarangelo LD, Mocarski ES, Studer L, Casanova JL, Zhang SY. Liu Z, et al. Among authors: perez de diego r. Sci Immunol. 2023 Apr 21;8(82):eade2860. doi: 10.1126/sciimmunol.ade2860. Epub 2023 Apr 21. Sci Immunol. 2023. PMID: 37083451 Free PMC article.
70 results