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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, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, 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, Delmonte OM, 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, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, 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, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, v… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
Staphylococcus aureus Bacteremia in Children: Changes During Eighteen Years.
Cobos-Carrascosa E, Soler-Palacín P, Nieves Larrosa M, Bartolomé R, Martín-Nalda A, Antoinette Frick M, Bernet A, Pumarola T, Figueras-Nadal C. Cobos-Carrascosa E, et al. Pediatr Infect Dis J. 2015 Dec;34(12):1329-34. doi: 10.1097/INF.0000000000000907. Pediatr Infect Dis J. 2015. PMID: 26780021
Multicenter study for the evaluation of the antibody response against salmonella typhi Vi vaccination (EMPATHY) for the diagnosis of Anti-polysaccharide antibody production deficiency in patients with primary immunodeficiency.
Sánchez-Ramón S, de Gracia J, García-Alonso AM, Rodríguez Molina JJ, Melero J, de Andrés A, García Ruiz de Morales JM, Ferreira A, Ocejo-Vinyals JG, Cid JJ, García Martínez JM, Lasheras T, Vargas ML, Gil-Herrera J, García Rodríguez MC, Castañer JL, González Granado LI, Allende LM, Soler-Palacin P, Herráiz L, López Hoyos M, Bellón JM, Silva G, Gurbindo DM, Carbone J, Rodríguez-Sáinz C, Matamoros N, Parker AR, Fernández-Cruz E; EMPATHY group. Sánchez-Ramón S, et al. Clin Immunol. 2016 Aug;169:80-84. doi: 10.1016/j.clim.2016.05.006. Epub 2016 May 25. Clin Immunol. 2016. PMID: 27236002 Free article. Clinical Trial. No abstract available.
Primary immunodeficiency associated with chromosomal aberration - an ESID survey.
Schatorjé E, van der Flier M, Seppänen M, Browning M, Morsheimer M, Henriet S, Neves JF, Vinh DC, Alsina L, Grumach A, Soler-Palacin P, Boyce T, Celmeli F, Goudouris E, Hayman G, Herriot R, Förster-Waldl E, Seidel M, Simons A, de Vries E. Schatorjé E, et al. Orphanet J Rare Dis. 2016 Aug 2;11(1):110. doi: 10.1186/s13023-016-0492-1. Orphanet J Rare Dis. 2016. PMID: 27484815 Free PMC article.
249 results