Séquençage à haut débit : outil de diagnostic des déficits immunitaires héréditaires [Next generation sequencing : a diagnostic tool for inherited immune defects]

Détails

ID Serval
serval:BIB_5CC64A51219F
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Séquençage à haut débit : outil de diagnostic des déficits immunitaires héréditaires [Next generation sequencing : a diagnostic tool for inherited immune defects]
Périodique
Revue medicale suisse
Auteur⸱e⸱s
Droz-Georget S., Riccio O., Royer-Bertrand B., Superti-Furga A., Candotti F.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Statut éditorial
Publié
Date de publication
05/04/2017
Peer-reviewed
Oui
Volume
13
Numéro
557
Pages
763-766
Langue
français
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
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 to be involved in the development, differentiation and regulation of the immune system allows to target hundreds of relevant genes in well characterized patients suspected of carrying inherited immune defects. This approach answers both diagnostic and research needs, facilitates the understanding of the mechanisms that underlie IIDs, and ultimately leads to the discovery of new therapeutic targets.

Mots-clé
High-Throughput Nucleotide Sequencing/methods, Humans, Immune System Diseases/diagnosis, Immune System Diseases/genetics, Immunologic Deficiency Syndromes/diagnosis, Immunologic Deficiency Syndromes/genetics, Mutation
Pubmed
Création de la notice
09/08/2017 10:51
Dernière modification de la notice
20/08/2019 15:15
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