Targeted Next-Generation Sequencing in the Molecular Diagnosis of Severe Combined Immunodeficiency.

ABSTRACT: Background and Objectives: Severe combined immunodeficiency (SCID) represents a group of rare and potentially fatal monogenic disorders arising from pathogenic variants in a broad spectrum of genes. Diagnostic delays beyond the first few months of life have been associated with poor overall survival and hematopoietic stem cell transplantation (HSCT) outcomes. Therefore, the aim of our study was to apply an NGS assay enabling the rapid and reliable diagnosis of SCID. Materials and Methods: We developed a targeted NGS panel of 30 genes implicated in the pathogenesis of most SCID cases and we applied it to three Greek infants with suspected SCID. Results: Each patient displayed a distinct immunophenotype-T^-B^-NK^-, T^-B^-

SUBMITTER: Bakaros E 

PROVIDER: S-EPMC12471661 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature