Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.

ABSTRACT: Inborn errors of immunity (IEI), a diverse group of rare inborn disorders involving over 500 genes, pose diagnostic challenges despite next-generation sequencing advancements. Accurate molecular diagnosis is crucial for personalized treatment. This study aimed to assess the complementary role of genome and transcriptome sequencing in improving diagnostic yield for inborn errors of immunity. A cohort of 37 suspected IEI cases mainly consisting of predominantly primarily antibody deficiency (PAD) (27/37) underwent genome and transcriptome sequencing. We validated transcriptome sequencing analysis using positive controls and showed limitations of current methods. Among the 37 IEI cases, genetic etiology was identified in 14% (5/37). Genome and transcriptome sequencing prompted diagnostic chan

SUBMITTER: Rozevska M 

PROVIDER: S-EPMC11986850 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature