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[Next generation sequencing : a diagnostic tool for inherited immune defects].

Revue medicale suisse - 5 Apr 2017

Droz-Georget Stéphanie, Riccio Orbicia, Royer-Bertrand Béryl, Superti-Furga Andrea, Candotti Fabio

Abstract excerpt

Establishing the definitive diagnosis in the case of inherited immune defects (IID) is often challenging because the clinical features can be heterogeneous, atypical and overlapping different disease entities. The next generation sequencing technology (NGS) allows identifying genetic variants that are responsible for the observed clinical presentations. The use of NGS applied to the genes mutated in IIDs or known...

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PMID: 28722367

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