Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

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 gene...

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Main Authors: Francesc Rudilla, Clara Franco-Jarava, Mónica Martínez-Gallo, Marina Garcia-Prat, Andrea Martín-Nalda, Jacques Rivière, Aina Aguiló-Cucurull, Laura Mongay, Francisco Vidal, Xavier Solanich, Iñaki Irastorza, Juan Luis Santos-Pérez, Jesús Tercedor Sánchez, Ivon Cuscó, Clara Serra, Noelia Baz-Redón, Mónica Fernández-Cancio, Carmen Carreras, José Manuel Vagace, Vicenç Garcia-Patos, Ricardo Pujol-Borrell, Pere Soler-Palacín, Roger Colobran
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-10-01
Series:Frontiers in Immunology
Subjects:
primary immunodeficiencies
next generation sequencing
clinical exome sequencing
TruSight one sequencing panel
mutations
genetic variants
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.02325/full

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https://www.frontiersin.org/article/10.3389/fimmu.2019.02325/full

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