Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)

The advent of next-generation sequencing (NGS) technologies has greatly expanded our understanding of both the clinical spectra and genetic landscape of inborn errors of immunity (IEIs). Endogamous populations may be enriched for unique, ancestry-specific disease-causing variants, a consideration th...

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Published in:Clinical immunology (Orlando, Fla.) Fla.), 2023-11, Vol.256, p.109758-109758, Article 109758
Main Authors: Peng, Xiao P., Al-Ddafari, Moudjahed Saleh, Caballero-Oteyza, Andres, El Mezouar, Chahrazed, Mrovecova, Pavla, Dib, Saad Eddin, Massen, Zoheir, Smahi, Mohammed Chems-Eddine, Faiza, Alddafari, Hassaïne, Rafik Terki, Lefranc, Gérard, Aribi, Mourad, Grimbacher, Bodo
Format: Article
Language:English
Subjects:
Ancestry
Diversity
Expressivity
Genetic paradigms
Inborn errors of immunity
Molecular medicine
Next-generation sequencing
Penetrance
Targeted gene panels
Variant classification
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Summary:The advent of next-generation sequencing (NGS) technologies has greatly expanded our understanding of both the clinical spectra and genetic landscape of inborn errors of immunity (IEIs). Endogamous populations may be enriched for unique, ancestry-specific disease-causing variants, a consideration that significantly impacts molecular testing and analysis strategies. Herein, we report on the application of a 2-step NGS-based testing approach beginning with targeted gene panels (TGPs) tailored to specific IEI subtypes and reflexing to whole exome sequencing (WES) if negative for Northwest Algerian patients with suspected IEIs. Our overall diagnostic yield of 57% is comparable to others broadly applying short-read NGS to IEI detection, but data from our localized cohort show some similarities and differences from NGS studies performed on larger regional IEI cohorts. This suggests the importance of tailoring diagnostic strategies to local demographics and needs, but also highlights ongoing concerns inherent to the application of genomics for clinical IEI diagnostics.
ISSN:1521-6616
1521-7035
DOI:10.1016/j.clim.2023.109758