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Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

12 Jun 2016

Abstract excerpt

Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However, success in dissecting the genetic etiology of common variable immunodeficiency (CVID) has been limited. We outline a practical framework for using WES to identify causative genetic defects in these subjects. WES was performed on 50 subjects diagnosed with CVID...

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PMID: 27379089
DOI: 10.3389/fimmu.2016.00220

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