Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)

Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment with allogeneic hematopoietic stem cell transplantat...

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Autores principales: van der Burg, Mirjam, Mahlaoui, Nizar, Gaspar, Hubert Bobby, Pai, Sung-Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759820/
https://www.ncbi.nlm.nih.gov/pubmed/31620409
http://dx.doi.org/10.3389/fped.2019.00373
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author van der Burg, Mirjam
Mahlaoui, Nizar
Gaspar, Hubert Bobby
Pai, Sung-Yun
author_facet van der Burg, Mirjam
Mahlaoui, Nizar
Gaspar, Hubert Bobby
Pai, Sung-Yun
author_sort van der Burg, Mirjam
collection PubMed
description Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment with allogeneic hematopoietic stem cell transplantation. Universal newborn screening for SCID, using an assay to detect T-cell receptor excision circles (TREC) in dried blood spots (DBS), is now being performed in all states in the United States. In this review, we discuss the development and outcomes of TREC screening, and continued challenges to implementation.
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spelling pubmed-67598202019-10-16 Universal Newborn Screening for Severe Combined Immunodeficiency (SCID) van der Burg, Mirjam Mahlaoui, Nizar Gaspar, Hubert Bobby Pai, Sung-Yun Front Pediatr Pediatrics Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment with allogeneic hematopoietic stem cell transplantation. Universal newborn screening for SCID, using an assay to detect T-cell receptor excision circles (TREC) in dried blood spots (DBS), is now being performed in all states in the United States. In this review, we discuss the development and outcomes of TREC screening, and continued challenges to implementation. Frontiers Media S.A. 2019-09-18 /pmc/articles/PMC6759820/ /pubmed/31620409 http://dx.doi.org/10.3389/fped.2019.00373 Text en Copyright © 2019 van der Burg, Mahlaoui, Gaspar and Pai. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
van der Burg, Mirjam
Mahlaoui, Nizar
Gaspar, Hubert Bobby
Pai, Sung-Yun
Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)
title Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)
title_full Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)
title_fullStr Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)
title_full_unstemmed Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)
title_short Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)
title_sort universal newborn screening for severe combined immunodeficiency (scid)
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6759820/
https://www.ncbi.nlm.nih.gov/pubmed/31620409
http://dx.doi.org/10.3389/fped.2019.00373
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