Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

ABSTRACT: Inborn errors of immunity (IEI) include a large group of inherited diseases sharing either poor, dysregulated, or absent and/or acquired function in one or more components of the immune system. Next-generation sequencing (NGS) has driven a rapid increase in the recognition of such defects, though the wide heterogeneity of genetically diverse but phenotypically overlapping diseases has often prevented the molecular characterization of the most complex patients. Two hundred and seventy-two patients were submitted to three successive NGS-based gene panels composed of 58, 146, and 312 genes. Along with pathogenic and likely pathogenic causative gene variants, accounting for the corresponding disorders (37/272 patients, 13.6%), a number of either rare (probably) damaging variants in genes unrel

SUBMITTER: Grossi A 

PROVIDER: S-EPMC8469131 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature