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

Details

Serval ID
serval:BIB_5CC64A51219F
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Séquençage à haut débit : outil de diagnostic des déficits immunitaires héréditaires [Next generation sequencing : a diagnostic tool for inherited immune defects]
Journal
Revue medicale suisse
Author(s)
Droz-Georget S., Riccio O., Royer-Bertrand B., Superti-Furga A., Candotti F.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Publication state
Published
Issued date
05/04/2017
Peer-reviewed
Oui
Volume
13
Number
557
Pages
763-766
Language
french
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
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.

Keywords
High-Throughput Nucleotide Sequencing/methods, Humans, Immune System Diseases/diagnosis, Immune System Diseases/genetics, Immunologic Deficiency Syndromes/diagnosis, Immunologic Deficiency Syndromes/genetics, Mutation
Pubmed
Create date
09/08/2017 10:51
Last modification date
20/08/2019 15:15
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