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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, Mogense… See abstract for full author list ➔ Matuozzo D, et al. Among authors: martin nalda a. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
[Use of intravenous artemisinin derivatives in severe malaria].
Knaepper S, Peña Y, Sulleiro E, Fernández-Polo A, Espiau M, Martín-Nalda A. Knaepper S, et al. An Pediatr (Barc). 2012 Jul;77(1):67-8. doi: 10.1016/j.anpedi.2012.02.001. Epub 2012 Mar 24. An Pediatr (Barc). 2012. PMID: 22445607 Free article. Spanish. No abstract available.
Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.
Franco-Jarava C, Álvarez de la Campa E, Solanich X, Morandeira-Rego F, Mas-Bosch V, García-Prat M, de la Cruz X, Martín-Nalda A, Soler-Palacín P, Hernández-González M, Colobran R. Franco-Jarava C, et al. J Clin Immunol. 2017 Nov;37(8):781-789. doi: 10.1007/s10875-017-0447-x. Epub 2017 Sep 23. J Clin Immunol. 2017. PMID: 28942469
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
Esteve-Solé A, Sologuren I, Martínez-Saavedra MT, Deyà-Martínez À, Oleaga-Quintas C, Martinez-Barricarte R, Martin-Nalda A, Juan M, Casanova JL, Rodriguez-Gallego C, Alsina L, Bustamante J. Esteve-Solé A, et al. Crit Rev Clin Lab Sci. 2018 May;55(3):184-204. doi: 10.1080/10408363.2018.1444580. Epub 2018 Mar 4. Crit Rev Clin Lab Sci. 2018. PMID: 29502462 Free PMC article. Review.
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Franco-Jarava C, Wang H, Martin-Nalda A, Alvarez SD, García-Prat M, Bodet D, García-Patos V, Plaja A, Rudilla F, Rodriguez-Sureda V, García-Latorre L, Aksentijevich I, Colobran R, Soler-Palacín P. Franco-Jarava C, et al. Clin Immunol. 2018 Jun;191:44-51. doi: 10.1016/j.clim.2018.03.009. Epub 2018 Mar 20. Clin Immunol. 2018. PMID: 29572183
Extended immunophenotyping reference values in a healthy pediatric population.
Garcia-Prat M, Álvarez-Sierra D, Aguiló-Cucurull A, Salgado-Perandrés S, Briongos-Sebastian S, Franco-Jarava C, Martin-Nalda A, Colobran R, Montserrat I, Hernández-González M, Pujol-Borrell R, Soler-Palacin P, Martínez-Gallo M. Garcia-Prat M, et al. Cytometry B Clin Cytom. 2019 May;96(3):223-233. doi: 10.1002/cyto.b.21728. Epub 2018 Oct 17. Cytometry B Clin Cytom. 2019. PMID: 30334372 Free article.
91 results