Search academic texts

Information × Registration Number 0222U000085, 0120U104282 , R & D reports Title Pilot study on neonatal screening of primary immunodeficiencies by TRECs and KRECs for T- and B-lymphopenia popup.stage_title Head Boyarchuk Oksana R., Registration Date 02-01-2022 Organization I. Horbachevsky Ternopil State Medical University popup.description2  GDR: 60 pp., 13 tables, 10 figures, 95 sources. PRIMARY IMMUNODEFICIENCIES, EARLY DIAGNOSIS, LYMPHOPENIA, TREC / KREC, NEONATAL SCREENING, ATAXIA-TELEANGIECTASY. The object of study - early diagnosis of severe immunodeficiency. The aim of the work is early detection and diagnosis of severe primary immunodeficiency by neonatal screening, prevention of severe infections and complications in this group of patients, timely radical treatment, improvement of survival and quality of life of children with severe primary immunodeficiency. Research methods - clinical (history, objective examination); general laboratory (determination of the number of leukocytes, neutrophils, platelets); immunological (study of subpopulations of lymphocytes by flow cytometry, immunoglobulins of classes IgA, IgG, IgM turbidimetric method, IgE enzyme-linked immunosorbent assay, molecular genetic (determination of TRECs and KRECs), mathematical and statistical. Analysis of literature sources and the results of the study showed that screening newborns for TKID allows to detect newborns with a wide range of diseases associated with impaired cellular immunity to clinical manifestations, to identify a number of new gene mutations that will promote timely appropriate therapy . A pilot study on neonatal screening of primary immunodeficiencies by TRECs and KRECs for T- and B-lymphopenias allowed for the first time to test the method in Ukraine, to determine the reference values ??of TREC and KREC for the diagnosis of severe combined immunodeficiencies and other congenital T-lymphopenia. The determination of TREC / KREC levels in 6300 neonatal dry spot samples showed the need for retest from the first sample in 467 (7.4%). Among them, 37 (0.6%) newborns had positive results and required re-sampling (second spot - new sample test). Product Description popup.authors popup.nrat_date 2022-03-09 Close