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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...

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Autores principales: Puck, Jennifer M., Gennery, Andrew R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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.
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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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