Related Experiment Video
Updated: Feb 26, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.9K
[Next generation sequencing : a diagnostic tool for inherited immune defects]
Stéphanie Droz-Georget1, Orbicia Riccio1, Béryl Royer-Bertrand2
1Laboratoire des déficits immunitaires héréditaires, Service d'immunologie et allergie, CHUV et Université de Lausanne, 1011 Lausanne.
Revue Medicale Suisse
|July 20, 2017
Summary
Diagnosing inherited immune defects (IID) is difficult due to varied symptoms. Next-generation sequencing (NGS) helps identify genetic causes, improving diagnosis and revealing new therapeutic targets for these complex immune system disorders.
Area of Science:
- Immunology
- Genetics
- Molecular Biology
Background:
- Diagnosing inherited immune defects (IID) presents challenges due to heterogeneous, atypical, and overlapping clinical features.
- Accurate genetic diagnosis is crucial for understanding disease mechanisms and guiding treatment strategies in IID.
Purpose of the Study:
- To evaluate the utility of next-generation sequencing (NGS) in diagnosing patients with suspected inherited immune defects.
- To explore how NGS can aid in identifying genetic variants underlying IID and discovering novel therapeutic targets.
Main Methods:
- Application of next-generation sequencing (NGS) technology to analyze genes associated with the immune system.
- Targeted sequencing of hundreds of relevant genes in well-characterized patients with suspected IID.
Main Results:
- NGS enables the identification of specific genetic variants responsible for the clinical presentations of IID.
- This approach successfully targets numerous genes critical for immune system development, differentiation, and regulation.
Conclusions:
- NGS is a powerful tool for both diagnostic and research purposes in the field of inherited immune defects.
- This technology facilitates a deeper understanding of IID pathogenesis and aids in the discovery of new therapeutic avenues.
