The use of next generation sequencing technologies for the diagnosis of inborn errors of immunity

Primary immunodeficiencies are congenital genetically determined immune disorders. Recent advances in molecular genetic technologies have enabled a simultaneous analysis of a large number of genes in a patient. The purpose of this study was to analyze the mutational spectrum in DNA samples collected from patients with various types of primary immunodeficiencies. In this study, we applied next-generation sequencing technology using a panel developed at the Belarusian Research Center for Pediatric Oncology, Hematology and Immunology and consisting of 290 genes that are associated with primary immunodeficiencies according to the existing literature. The testing was carried out in 96 patients with a clinical history suggesting a primary immunological defect. As a result, 37.5% of cases (36/96 patients) were found to harbor genetic defects that lead to disorders of the immune system.