Please use this identifier to cite or link to this item: http://hdl.handle.net/10995/103046
Title: Neonatal screening for severe combined immune deficiency in Russia: Glorious future or tomorrow's reality?
Неонатальный скрининг на тяжелую комбинированную иммунную недостаточность в России: прекрасное дале ко или завтрашняя реальность?
Authors: Deryabina, S. S.
Tuzankina, I. A.
Vlasova, E. V.
Bolkov, M. A.
Shershnev, V. N.
Issue Date: 2017
Publisher: Publishing House of the Union of Pediatricians
Citation: Neonatal screening for severe combined immune deficiency in Russia: Glorious future or tomorrow's reality? / S. S. Deryabina, I. A. Tuzankina, E. V. Vlasova, et al. — DOI 10.15690/vsp.v16i1.1696 // Voprosy Sovremennoi Pediatrii - Current Pediatrics. — 2017. — Vol. 16. — Iss. 1. — P. 59-66.
Abstract: Mass screening of newborns in Russia for five hereditary diseases does not meet the requirements of the world community for the neonatal screening program. Success in the development of laboratory diagnostic technologies and active introduction of achievements in genetics and molecular biology into medical practice allow for the revision of the list of nosologies included in the national neonatal screening program by replacing the disease or adding new nosologies. The article discusses the possibility of including genetic testing for severe combined immune deficiency in the Newborn Screening Program in Russia. The results from a retrospective study of markers of naive T- and B-lymphocytes (TREC and KREC) in the group of children with immuno-dependent pathology developed in the first year of life are discussed. © 2017 Voprosy Sovremennoi Pediatrii - Current Pediatrics. All rights reserved.
Keywords: KREC
NEONATAL SCREENING
PRIMARY IMMUNODEFICIENCY
SEVERE COMBINED IMMUNE DEFICIENCY
TREC
URI: http://hdl.handle.net/10995/103046
Access: info:eu-repo/semantics/openAccess
SCOPUS ID: 85102430102
PURE ID: 1987549
d036bc1e-b115-4cb3-862e-db5e62b0016e
ISSN: 16825527
DOI: 10.15690/vsp.v16i1.1696
Appears in Collections:Научные публикации, проиндексированные в SCOPUS и WoS CC

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