Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting

Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting

Primary immunodeficiency disorders (PIDs) are inborn errors of immunity (IEI) that cause immune system impairment. To date, more than 400 single-gene IEI have been well defined. The advent of next generation sequencing (NGS) technologies has improved clinical diagnosis and allowed for discovery of n...

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Bibliographic Details
Main Authors: Clair Engelbrecht, Michael Urban, Mardelle Schoeman, Brandon Paarwater, Ansia van Coller, Deepthi Raju Abraham, Helena Cornelissen, Richard Glashoff, Monika Esser, Marlo Möller, Craig Kinnear, Brigitte Glanzmann
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Immunology
Subjects:
inborn errors of immunity
South Africa
whole exome sequencing
targeted sequencing
genetic variants
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2021.665621/full

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https://www.frontiersin.org/articles/10.3389/fimmu.2021.665621/full

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