Diagnostic significance of determining products of DNA rearrangments of the T-and-B cell receptor TREC/KREC in common variable immunodeficiency

Abstract

Common variable immunedeficiency (CVID) is a group of diseases that are inborn errors of the immune system and are characterized by impaired production of protective antibodies. The reason is a defect in the T- and B-cells, leading to impaired ability to produce specific antibodies after vaccination and infections with a significant decrease in immunoglobulins. Laboratory methods for diagnosing CVID usually include: flow cytometry and enzyme-linked immunosorbent assay to determine the levels of immunoglobulins (IgG, IgA, IgM) and antibody titer, however, these methods do not provide sufficient information about the neogenesis of lymphocytes. Our study is aimed at obtaining information about the possibility of using a simple and effective method for determining T- and B-lymphocyte receptor recombination products (TREC/KREC) in CVID. This method allows you to evaluate the neogenesis of T and B lymphocytes. The study included 12 patients diagnosed with CVID at the age of 11,2 (7,8; 15,0) years. In 2 patients CVID was determined by defects in the NFkB1 and NFkB2 genes. In 10 patients with CVID, the genetic defect was not identified; the diagnosis was established on the basis of clinical and laboratory data. To assess the diagnostic significance of the analyzed method, ROC analysis was used, followed by calculation of diagnostic sensitivity and specificity for each indicator. Our data allows us to assert that the quantitative determination of TREC/ KREC allows using this method with high diagnostic sensitivity and specificity at the stages of diagnosing CVID.