The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).

Abstract excerpt

Next Generation Sequencing (NGS) has uncovered hundreds of common and rare genetic variants involved in complex and rare diseases including immune deficiencies in both an autosomal recessive and autosomal dominant pattern. These rare variants however, cannot be classified clinically, and common variants only marginally contribute to disease susceptibility. In this study, we evaluated the multi-gene panel results...

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• Common Variable Immunodeficiency
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• Gene Frequency
• Genetic Predisposition to Disease