Universal Newborn Screening for Severe Combined Immunodeficiency (SCID).
T lymphocytes
allogeneic hematopoietic stem cell transplantation
newborn screening
public health
severe combined immunodeficiency
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2019
2019
Historique:
received:
27
07
2019
accepted:
30
08
2019
entrez:
18
10
2019
pubmed:
18
10
2019
medline:
18
10
2019
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 31620409
doi: 10.3389/fped.2019.00373
pmc: PMC6759820
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
373Informations de copyright
Copyright © 2019 van der Burg, Mahlaoui, Gaspar and Pai.
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