Neonatal Screening for Severe Combined Immune Deficiency in Russia: Glorious Future or Tomorrow’s Reality?
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...
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| Format: | Article |
| Language: | English |
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"Paediatrician" Publishers LLC
2017-04-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/1732 |
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| author | Svetlana S. Deryabina Irina A. Tuzankina Elena V. Vlasova Mikhail A. Bolkov Viktor N. Shershnev |
| author_facet | Svetlana S. Deryabina Irina A. Tuzankina Elena V. Vlasova Mikhail A. Bolkov Viktor N. Shershnev |
| author_sort | Svetlana S. Deryabina |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c2d3aecbeb4548dc8595d156a306ddf9 |
| institution | DOAJ |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2017-04-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-c2d3aecbeb4548dc8595d156a306ddf92025-08-20T03:21:59Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352017-04-01161596610.15690/vsp.v16i1.16961664Neonatal Screening for Severe Combined Immune Deficiency in Russia: Glorious Future or Tomorrow’s Reality?Svetlana S. Deryabina0Irina A. Tuzankina1Elena V. Vlasova2Mikhail A. Bolkov3Viktor N. Shershnev4Medical Center «Health Care of Mother and Child», Institute of Immunology and Physiology, Ural Federal University n.a. 1st President of Russian Federation B.N. YeltsinInstitute of Immunology and Physiology, Ural Federal University n.a. 1st President of Russian Federation B.N. Yeltsin, Sverdlovsk Regional Children Clinical Hospital № 1Sverdlovsk Regional Children Clinical Hospital № 1Institute of Immunology and Physiology, Ural Federal University n.a. 1st President of Russian Federation B.N. YeltsinUral Federal University n.a. 1st President of Russian Federation B.N. Yeltsin, Ekaterinburg, Institute of Industrial EcologyMass 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.https://vsp.spr-journal.ru/jour/article/view/1732severe combined immune deficiencyprimary immunodeficiencyneonatal screeningtreckrec |
| spellingShingle | Svetlana S. Deryabina Irina A. Tuzankina Elena V. Vlasova Mikhail A. Bolkov Viktor N. Shershnev Neonatal Screening for Severe Combined Immune Deficiency in Russia: Glorious Future or Tomorrow’s Reality? Вопросы современной педиатрии severe combined immune deficiency primary immunodeficiency neonatal screening trec krec |
| title | Neonatal Screening for Severe Combined Immune Deficiency in Russia: Glorious Future or Tomorrow’s Reality? |
| title_full | Neonatal Screening for Severe Combined Immune Deficiency in Russia: Glorious Future or Tomorrow’s Reality? |
| title_fullStr | Neonatal Screening for Severe Combined Immune Deficiency in Russia: Glorious Future or Tomorrow’s Reality? |
| title_full_unstemmed | Neonatal Screening for Severe Combined Immune Deficiency in Russia: Glorious Future or Tomorrow’s Reality? |
| title_short | Neonatal Screening for Severe Combined Immune Deficiency in Russia: Glorious Future or Tomorrow’s Reality? |
| title_sort | neonatal screening for severe combined immune deficiency in russia glorious future or tomorrow s reality |
| topic | severe combined immune deficiency primary immunodeficiency neonatal screening trec krec |
| url | https://vsp.spr-journal.ru/jour/article/view/1732 |
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