Neonatal Screening for Severe Combined Immune Deficiency in Russia: Glorious Future or Tomorrow’s Reality?

Voprosy Sovremennoj Pediatrii

Irina A. Tuzankina¹  Mikhail A. Bolkov²  Svetlana S. Deryabina³  Elena V. Vlasova⁴  Viktor N. Shershnev⁵ 

[1] Institute of Immunology and Physiology, Ural Federal University n.a. 1st President of Russian Federation B.N. Yeltsin, Sverdlovsk Regional Children Clinical Hospital № 1;Institute of Immunology and Physiology, Ural Federal University n.a. 1st President of Russian Federation B.N. Yeltsin;Medical Center «Health Care of Mother and Child»,Institute of Immunology and Physiology, Ural Federal University n.a. 1st President of Russian Federation B.N. Yeltsin;Sverdlovsk Regional Children Clinical Hospital № 1;Ural Federal University n.a. 1st President of Russian Federation B.N. Yeltsin, Ekaterinburg, Institute of Industrial Ecology;

关键词: severe combined immune deficiency;    primary immunodeficiency;    neonatal screening;    trec;    krec;   

DOI  :  10.15690/vsp.v16i1.1696

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown