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Information × Registration Number 0221U100676, 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 08-01-2021 Organization I. Horbachevsky Ternopil State Medical University popup.description2  report: 47 articles, 5 tables, 95 sources. NEONATAL SCREENING, PRIMARY IMMUNODEFICIENCIES, TRECS AND KRECS METHODS, T-LYMPHOPENIA, B-LYMPHOPENIA, CHROMOSOMAL ANOMALIES, RECYCLEDICIDE Object of research: 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. The analysis of scientific publications of the scientometric base Scopus and MedLine is carried out in order to determine the possibility, expediency and prospects of introduction of neonatal screening of T- and B-lymphopenia for the diagnosis of TKID and other related conditions in Ukraine. It was determined that neonatal screening of TKID using TREC or TREC / KREC method for the determination of T- and B-lymphopenia allows timely detection of combined primary immunodeficiencies, especially severe, allows timely preventive measures to prevent infections, their adequate treatment and save the lives of children and improve their quality of life. A pilot study will justify the clinical and economic feasibility of implementing full-scale neonatal TKID screening in Ukraine. The analysis of researches of a condition of immunity of children with chromosomal anomalies is carried out. Immunological examination of children with Down syndrome, deletion 22q11.2, Turner, Wolf-Hirschhorn, Jacobsen, CHARGE, Cornelia de Lange, deletion 18q revealed immunodeficiency, which is manifested by hypogammaglobulinemia and / or changes in cellular immunity. The pathogenetic mechanisms of immunological abnormalities in children with chromosomal abnormalities are elucidated. It is emphasized that during the screening of newborns for severe combined immunodeficiency in patients with chromosomal abnormalities, T-cell lymphopenia is detected, so the Product Description popup.authors popup.nrat_date 2021-03-17 Close