DETERMINATION OF REFERENCE VALUES FOR TREC AND KREC IN DRY BLOOD SPOTS OF NEWBORNS FROM DIFFERENT GESTATION AGES IN SVERDLOVSK REGION

As a preparatory stage for implementation of genetic testing for severe combined immunodeficiency under a neonatal screening program, a study was performed in Sverdlovsk Region which concerned quantitative determination of T and B cell neogenesis markers (TREC and KREC, respectively) in blood of con...

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Autores principales:	S. S. Deryabina, I. A. Tuzankina, V. N. Shershnev
Formato:	article
Lenguaje:	RU
Publicado:	SPb RAACI 2018
Materias:	severe combined immunodeficiency primary immunodeficiency trec krec newborn screening retrospective diagnosis Immunologic diseases. Allergy RC581-607
Acceso en línea:	https://doaj.org/article/29d7a7eeab2b4ac5b4586def680ad857
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spelling	oai:doaj.org-article:29d7a7eeab2b4ac5b4586def680ad8572021-11-18T08:03:47ZDETERMINATION OF REFERENCE VALUES FOR TREC AND KREC IN DRY BLOOD SPOTS OF NEWBORNS FROM DIFFERENT GESTATION AGES IN SVERDLOVSK REGION1563-06252313-741X10.15789/1563-0625-2018-1-85-98https://doaj.org/article/29d7a7eeab2b4ac5b4586def680ad8572018-01-01T00:00:00Zhttps://www.mimmun.ru/mimmun/article/view/1435https://doaj.org/toc/1563-0625https://doaj.org/toc/2313-741XAs a preparatory stage for implementation of genetic testing for severe combined immunodeficiency under a neonatal screening program, a study was performed in Sverdlovsk Region which concerned quantitative determination of T and B cell neogenesis markers (TREC and KREC, respectively) in blood of conditionally healthy newborns. Archived samples of dry blood spots collected in test-forms for routine neonatal screening were used as biological material for the study of full-term 26 girls and 26 boys who did not exhibit serious illnesses during first year of their life. In addition, we investigated potential effects of foetal gestational age upon the number of TREC and KREC in preterm infants. Blood samples from 55 preterm infants (23 to 36 gestational weeks) were also examined. It was shown that the levels of TREC and KREC increased sequentially with the increased gestation terms, but the quantitative changes of markers showed different dynamics. In this respect, the recommended terms of blood sample collection for SCID screening is entirely consistent with timing of blood sampling for routine newborn screening. An alternative result was obtained with a complete absence of TREC or KREC in blood sample of a newborn, irrespectively of prematurity degree (at valid copy numbers of a control gene) which should serve as an indication for immediate consulting of the child by immunologist and in-depth immunological examination, because it may be a first prognostic sign of a fatal disease. In order to obtain correct cut-off levels for TREC/KREC, additional studies are needed on a larger sample of newborns (1.000 to 5.000), followed by validation of the obtained reference boundaries in studies involving patients with different forms of primary immunodeficiencies.S. S. DeryabinaI. A. TuzankinaV. N. ShershnevSPb RAACIarticlesevere combined immunodeficiencyprimary immunodeficiencytreckrecnewborn screeningretrospective diagnosisImmunologic diseases. AllergyRC581-607RUMedicinskaâ Immunologiâ, Vol 20, Iss 1, Pp 85-98 (2018)
institution	DOAJ
collection	DOAJ
language	RU
topic	severe combined immunodeficiency primary immunodeficiency trec krec newborn screening retrospective diagnosis Immunologic diseases. Allergy RC581-607
spellingShingle	severe combined immunodeficiency primary immunodeficiency trec krec newborn screening retrospective diagnosis Immunologic diseases. Allergy RC581-607 S. S. Deryabina I. A. Tuzankina V. N. Shershnev DETERMINATION OF REFERENCE VALUES FOR TREC AND KREC IN DRY BLOOD SPOTS OF NEWBORNS FROM DIFFERENT GESTATION AGES IN SVERDLOVSK REGION
description	As a preparatory stage for implementation of genetic testing for severe combined immunodeficiency under a neonatal screening program, a study was performed in Sverdlovsk Region which concerned quantitative determination of T and B cell neogenesis markers (TREC and KREC, respectively) in blood of conditionally healthy newborns. Archived samples of dry blood spots collected in test-forms for routine neonatal screening were used as biological material for the study of full-term 26 girls and 26 boys who did not exhibit serious illnesses during first year of their life. In addition, we investigated potential effects of foetal gestational age upon the number of TREC and KREC in preterm infants. Blood samples from 55 preterm infants (23 to 36 gestational weeks) were also examined. It was shown that the levels of TREC and KREC increased sequentially with the increased gestation terms, but the quantitative changes of markers showed different dynamics. In this respect, the recommended terms of blood sample collection for SCID screening is entirely consistent with timing of blood sampling for routine newborn screening. An alternative result was obtained with a complete absence of TREC or KREC in blood sample of a newborn, irrespectively of prematurity degree (at valid copy numbers of a control gene) which should serve as an indication for immediate consulting of the child by immunologist and in-depth immunological examination, because it may be a first prognostic sign of a fatal disease. In order to obtain correct cut-off levels for TREC/KREC, additional studies are needed on a larger sample of newborns (1.000 to 5.000), followed by validation of the obtained reference boundaries in studies involving patients with different forms of primary immunodeficiencies.
format	article
author	S. S. Deryabina I. A. Tuzankina V. N. Shershnev
author_facet	S. S. Deryabina I. A. Tuzankina V. N. Shershnev
author_sort	S. S. Deryabina
title	DETERMINATION OF REFERENCE VALUES FOR TREC AND KREC IN DRY BLOOD SPOTS OF NEWBORNS FROM DIFFERENT GESTATION AGES IN SVERDLOVSK REGION
title_short	DETERMINATION OF REFERENCE VALUES FOR TREC AND KREC IN DRY BLOOD SPOTS OF NEWBORNS FROM DIFFERENT GESTATION AGES IN SVERDLOVSK REGION
title_full	DETERMINATION OF REFERENCE VALUES FOR TREC AND KREC IN DRY BLOOD SPOTS OF NEWBORNS FROM DIFFERENT GESTATION AGES IN SVERDLOVSK REGION
title_fullStr	DETERMINATION OF REFERENCE VALUES FOR TREC AND KREC IN DRY BLOOD SPOTS OF NEWBORNS FROM DIFFERENT GESTATION AGES IN SVERDLOVSK REGION
title_full_unstemmed	DETERMINATION OF REFERENCE VALUES FOR TREC AND KREC IN DRY BLOOD SPOTS OF NEWBORNS FROM DIFFERENT GESTATION AGES IN SVERDLOVSK REGION
title_sort	determination of reference values for trec and krec in dry blood spots of newborns from different gestation ages in sverdlovsk region
publisher	SPb RAACI
publishDate	2018
url	https://doaj.org/article/29d7a7eeab2b4ac5b4586def680ad857
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DETERMINATION OF REFERENCE VALUES FOR TREC AND KREC IN DRY BLOOD SPOTS OF NEWBORNS FROM DIFFERENT GESTATION AGES IN SVERDLOVSK REGION

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