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

doi:10.3389/fimmu.2019.02325

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Article

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

Frontiers in immunology - 1 Jan 2019

Rudilla Francesc, Franco-Jarava Clara, Martínez-Gallo Mónica, Garcia-Prat Marina, Martín-Nalda Andrea, Rivière Jacques, Aguiló-Cucurull Aina, Mongay Laura, Vidal Francisco, Solanich Xavier, Irastorza Iñaki, Santos-Pérez Juan Luis, Tercedor Sánchez Jesús, Cuscó Ivon, Serra Clara, Baz-Redón Noelia, Fernández-Cancio Mónica, Carreras Carmen, Vagace José Manuel, Garcia-Patos Vicenç, Pujol-Borrell Ricardo, Soler-Palacín Pere, Colobran Roger

Abstract excerpt

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. Several NGS approaches are available, from the unbiased...

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PMID: 31681265
DOI: 10.3389/fimmu.2019.02325
PMCID: PMC6797824

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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