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Establishing Newborn Screening for SCID in the USA; Experience in California †
Newborn screening for severe combined immunodeficiency (SCID) has developed from the realization that infants affected with SCID require prompt diagnosis and treatment to avoid fatal infectious complications. Screening DNA from infant dried blood spots for T-cell receptor excision circles (TRECs), b...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8628983/ https://www.ncbi.nlm.nih.gov/pubmed/34842619 http://dx.doi.org/10.3390/ijns7040072 |
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author | Puck, Jennifer M. Gennery, Andrew R. |
author_facet | Puck, Jennifer M. Gennery, Andrew R. |
author_sort | Puck, Jennifer M. |
collection | PubMed |
description | Newborn screening for severe combined immunodeficiency (SCID) has developed from the realization that infants affected with SCID require prompt diagnosis and treatment to avoid fatal infectious complications. Screening DNA from infant dried blood spots for T-cell receptor excision circles (TRECs), byproducts of normal antigen-receptor gene rearrangement, has proven to be a reliable method to identify infants with SCID and other serious T lymphocyte defects before the onset of serious infections. The experience of the SCID newborn screening program in California after screening over 3 million infants demonstrates the effectiveness of this measure. |
format | Online Article Text |
id | pubmed-8628983 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-86289832021-11-30 Establishing Newborn Screening for SCID in the USA; Experience in California † Puck, Jennifer M. Gennery, Andrew R. Int J Neonatal Screen Review Newborn screening for severe combined immunodeficiency (SCID) has developed from the realization that infants affected with SCID require prompt diagnosis and treatment to avoid fatal infectious complications. Screening DNA from infant dried blood spots for T-cell receptor excision circles (TRECs), byproducts of normal antigen-receptor gene rearrangement, has proven to be a reliable method to identify infants with SCID and other serious T lymphocyte defects before the onset of serious infections. The experience of the SCID newborn screening program in California after screening over 3 million infants demonstrates the effectiveness of this measure. MDPI 2021-10-31 /pmc/articles/PMC8628983/ /pubmed/34842619 http://dx.doi.org/10.3390/ijns7040072 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Puck, Jennifer M. Gennery, Andrew R. Establishing Newborn Screening for SCID in the USA; Experience in California † |
title | Establishing Newborn Screening for SCID in the USA; Experience in California † |
title_full | Establishing Newborn Screening for SCID in the USA; Experience in California † |
title_fullStr | Establishing Newborn Screening for SCID in the USA; Experience in California † |
title_full_unstemmed | Establishing Newborn Screening for SCID in the USA; Experience in California † |
title_short | Establishing Newborn Screening for SCID in the USA; Experience in California † |
title_sort | establishing newborn screening for scid in the usa; experience in california † |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8628983/ https://www.ncbi.nlm.nih.gov/pubmed/34842619 http://dx.doi.org/10.3390/ijns7040072 |
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