Open AccessGenetic variants identified in children with recurrent infections
Author(s) -
А. С. Левина,
Evgeny N. Suspitsin,
Н. В. Скрипченко,
О. В. Голева,
О. М. Ибрагимова
Publication year - 2021
Publication title -
detskie infekcii
Language(s) - English
Resource type - Journals
eISSN - 2618-8139
pISSN - 2072-8107
DOI - 10.22627/2072-8107-2021-20-4-13-17
Subject(s) - primary immunodeficiency , human immunodeficiency virus (hiv) , genetic analysis , gene , medicine , biology , immune system , immunology , genetics
Currently, the most effective way to diagnose hereditary defects of the immune system is molecular genetic research, the results of which are evaluated in conjunction with the data of clinical and laboratory studies. Aims of the sudy: to evaluate the frequency and spectrum of rare genetic variants associated with the development of primary immunodeficiency (PID) in children with recurrent infections. Materials and methods: DNA samples from 113 children with recurrent infections were analyzed by targeted multigene sequencing of 338 PID-associated genes. Results: Pathogenic variants appropriate to the potential diagnosis of PID were identified in 8% of patients. Interestingly, 47.8% of children had variants associated with auto-inflammatory disorders.