Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort.
Maliwan TengsujaritkulNarissara SuratannonChupong IttiwutRungnapa IttiwutPantipa ChatchateeKanya SuphapeetipornVorasuk ShotelersukPublished in: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology (2021)
The diagnostic yield of WES in this patient cohort was 50%. Six novel genetic variants in IEI genes were identified. The clinical usefulness of WES in IEI was demonstrated, emphasizing it as an effective diagnostic strategy in these genetically heterogeneous disorders.