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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Detalhes bibliográficos
Publicado no:Front Immunol
Main Authors: Engelbrecht, Clair, Urban, Michael, Schoeman, Mardelle, Paarwater, Brandon, van Coller, Ansia, Abraham, Deepthi Raju, Cornelissen, Helena, Glashoff, Richard, Esser, Monika, Möller, Marlo, Kinnear, Craig, Glanzmann, Brigitte
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Immunology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8176954/
https://ncbi.nlm.nih.gov/pubmed/34093558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2021.665621
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