ĐẶC ĐIỂM DI TRUYỀN CỦA BỆNH NHI SUY GIẢM MIỄN DỊCH TIÊN PHÁT TẠI BỆNH VIỆN NHI ĐỒNG 1

Abstract

Aim: Primary immunodeficiency diseases (PIDs) are a heterogeneous group of more than 400 monogenic disorders caused by defects in genes responsible for different components of the immune system. This study investigated gene mutations using different molecular biology techniques. Materials and methods: This study focused on the molecular diagnosis in PIDs pediatric group. Medical records of patients with PIDs during the period 2013 – 2022 in Children’s hospital 1 HCMC were retrospectively reviewed. Within all mutations were identified by different techniques which depended on clinical and laboratory characteristics of different subgroups, including Sanger sequencing (SS), fluorescence in situ hybridization (FISH), sequencing to detect copy number of variants (CNVs) and whole exome sequencing (WES) which be double checked by SS after finding mutations. Results: A total of 75 patients were registered during the study period with mostly patients of predominantly antibody deficiency (27%), followed by combined immunodeficiencies with associated syndromic features (21%). Family history suggestive of PIDs were reported in 23%. Totally 27% individuals were died after median following time of 21 months. Mutations were identified in 31 different genes with 82 variants and more than 47% of patients with reported genetic defects were transmitted by X-linked recessive (XL) inheritance. The majority of the mutations were missense mutations (42%). Conclusion: Genetic testing should be an integral part in the diagnosis and the management of PIDs patients.