SELECTIVE SCREENING FOR IMMUNE DISORDERS IN NEWBORN AND INFANT CHILDREN

Abstract

Introduction. Primary immunodeficiency states (PIDs) are a heterogeneous group of innate immune disorders. A feature of the clinical manifestations of PID is that they are nonspecific for specific clinical forms. With untimely diagnosis and the absence of pathogenetic therapy for immunodeficiencies, an unfavorable outcome is likely. From these positions, a modern method for diagnosing PID using multiplex analysis of the amount of TREC and KREC in dry blood spots in newborns and young children is relevant. The purpose of the study: a comparative analysis of the amount of TREC and KREC in dry blood spots in children at risk for primary immunodeficiency (PID) under the age of 2 years as markers of T- and B-cell immune defects. Methods. Markers of T-cell (TREC) and B-cell (KREC) immunodeficiencies were identified in 112 children from the PID risk group under the age of 2 years. The number of copies of TREC and KREC was determined by real-time PCR. Phenotyping of lymphocytes was carried out by flow cytometry. Results. In 98 children (87.5%) out of 112 examined, the levels of TREC and KREC did not differ from the reference values. In 14 (12.5%) of children, a decrease in the level of TREC compared with the norm (p 0.05) was detected, regardless of gestational age: 87 copies /105 cells [27–217] in 5 full-term children and 140 copies /105 cells (51–338) in 9 premature babies. The number of copies of TREC in the retest after 4 months reached the reference values in children with different gestational age. A decrease in the absolute and relative values of CD19+lym (B-cell) was found in two children of 2B group. Conclusion. The obtained results allow us to consider the quantitative analysis of TREC and KREC as an effective method for screening for immune defects, especially T-cell deficiency, in children, regardless of gestational age.