Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)

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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Bibliographic Details
Main Authors: Mirjam van der Burg, Nizar Mahlaoui, Hubert Bobby Gaspar, Sung-Yun Pai
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-09-01
Series:Frontiers in Pediatrics
Subjects:
severe combined immunodeficiency
T lymphocytes
newborn screening
allogeneic hematopoietic stem cell transplantation
public health
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00373/full
Description
Summary: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.
ISSN:2296-2360

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