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Information × Registration Number 0223U000840, 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 20-01-2023 Organization I. Horbachevsky Ternopil State Medical University popup.description2  Report on the GDR: 118 pp., 18 tables, 14 figures, 95 sources. NEONATAL SCREENING, PRIMARY IMMUNODEFICIENCY, TRECS/KRECS, T-LYMPHOPAENIA, B-LYMPHOPAENIA, CHROMOSOMAL ANOMALIES, ATAXIA-TELANGIECTASIA, NIEMGEN CHROMOSOMAL BREAKAGE SYNDROME, RECURRENT INFECTIONS, CHILDREN Object of research: early diagnosis of severe immunodeficiencies. The purpose of the work is early detection and diagnosis of severe primary immunodeficiencies through neonatal screening, prevention of the development 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 immunodeficiencies. Severe combined immunodeficiency (SCID) is a group of congenital immune disorders (CIDs) characterized by severe T- and/or B-lymphopenia. At birth, clinical signs of the disease are usually absent, but in the first year of life, often in the first months, the disease is manifested by severe infections. Timely diagnosis and treatment play a decisive role in the survival of patients. The expansion of hemostatic stem cell transplantation in Ukraine and the development of the bone marrow donor registry over the past few years have created opportunities for early correction of VPI and improvement of the quality and duration of life of children with CKD. For the first time in Ukraine, we launched a pilot study of screening newborns for severe combined immunodeficiency and T-cell lymphopenia by determining T-receptor excision rings (TREC) and kappa-deletion element recombination rings (KREC). Analysis of TREC and KREC was performed by real-time polymerase chain reaction (RT-PCR) followed by melting curve analysis in neonatal dry blood spots (DBC). SPK samples were collected between May 2020 and January 2022. A total of 10,350 newborns were examined. Product Description popup.authors popup.nrat_date 2023-01-20 Close