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Article

Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies

23 Jul 2017

Abstract excerpt

Primary immunodeficiencies (PIDs) are genetic disorders impairing host immunity, leading to life-threatening infections, autoimmunity, and/or malignancies. Genomic technologies have been critical for expediting the discovery of novel genetic defects underlying PIDs, expanding our knowledge of the complex clinical phenotypes associated with PIDs, and in shifting paradigms of PID pathogenesis. Once considered...

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PMID: 28791010
DOI: 10.3389/fimmu.2017.00847

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