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0 p, 658.9 KB Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing : Expected and Unexpected Findings / Rudilla, Francesc (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Franco-Jarava, Clara (Jeffrey Model Foundation Excellence Center) ; Martínez Gallo, Mónica (Jeffrey Model Foundation Excellence Center) ; Garcia-Prat, Marina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Rivière, Jacques (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Aguiló-Cucurull, Aina (Jeffrey Model Foundation Excellence Center) ; Mongay, Laura (Banc de Sang i Teixits) ; Vidal, Francisco (Instituto de Salud Carlos III) ; Solanich, Xavier (Hospital Universitari de Bellvitge) ; Irastorza, Iñaki (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Santos-Pérez, Juan Luis (Hospital Universitario Virgen de las Nieves (Granada)) ; Tercedor Sánchez, Jesús (Hospital Universitario Virgen de las Nieves (Granada)) ; Cusco, Ivon (Hospital Universitari Vall d'Hebron) ; Serra, Clara (Hospital Universitari Vall d'Hebron) ; Baz-Redón, Noelia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández Cancio, Mónica (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Carreras, Carmen (Hospital Universitari i Politècnic La Fe (València)) ; Vagace, Manuel (Complejo Hospitalario Universitario de Badajoz) ; García-Patos Briones, Vicente (Hospital Universitari Vall d'Hebron) ; Pujol-Borrell, Ricardo (Jeffrey Model Foundation Excellence Center) ; Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Primary immunodeficiencies (PIDs) refer to a clinically, immunologically, and genetically heterogeneous group of over 350 disorders affecting development or function of the immune system. The increasing use of next-generation sequencing (NGS) technology has greatly facilitated identification of genetic defects in PID patients in daily clinical practice. [...]
2019 - 10.3389/fimmu.2019.02325
Frontiers in immunology, Vol. 10 (january 2019) , p. 2325  

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