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Exposing and Overcoming Limitations of Clinical Laboratory Tests in COVID-19 by Adding Immunological Parameters; A Retrospective Cohort Analysis and Pilot Study.
Sánchez-Montalvá A, Álvarez-Sierra D, Martínez-Gallo M, Perurena-Prieto J, Arrese-Muñoz I, Ruiz-Rodríguez JC, Espinosa-Pereiro J, Bosch-Nicolau P, Martínez-Gómez X, Antón A, Martínez-Valle F, Riveiro-Barciela M, Blanco-Grau A, Rodríguez-Frias F, Castellano-Escuder P, Poyatos-Canton E, Bas-Minguet J, Martínez-Cáceres E, Sánchez-Pla A, Zurera-Egea C, Teniente-Serra A, Hernández-González M, Pujol-Borrell R; “Hospital Vall d’Hebron Group for the study of COVID-19 immune profile”. Sánchez-Montalvá A, et al. Front Immunol. 2022 Jun 29;13:902837. doi: 10.3389/fimmu.2022.902837. eCollection 2022. Front Immunol. 2022. PMID: 35844497 Free PMC article.
Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.
Boluda-Navarro M, Ibáñez M, Liquori A, Franco-Jarava C, Martínez-Gallo M, Rodríguez-Vega H, Teresa J, Carreras C, Such E, Zúñiga Á, Colobran R, Cervera JV. Boluda-Navarro M, et al. Front Immunol. 2021 Mar 31;12:625591. doi: 10.3389/fimmu.2021.625591. eCollection 2021. Front Immunol. 2021. PMID: 33868243 Free PMC article.
The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Arcas-García A, Garcia-Prat M, Magallón-Lorenz M, Martín-Nalda A, Drechsel O, Ossowski S, Alonso L, Rivière JG, Soler-Palacín P, Colobran R, Sayós J, Martínez-Gallo M, Franco-Jarava C. Arcas-García A, et al. Clin Exp Immunol. 2020 Apr;200(1):61-72. doi: 10.1111/cei.13405. Epub 2020 Jan 19. Clin Exp Immunol. 2020. PMID: 31799703 Free PMC article.
77 results