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Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)

van der Burg, M; Mahlaoui, N; Gaspar, HB; Pai, S-Y; (2019) Universal Newborn Screening for Severe Combined Immunodeficiency (SCID). Frontiers in Pediatrics , 7 , Article 373. 10.3389/fped.2019.00373. Green open access

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Abstract

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.

Type: Article
Title: Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)
Open access status: An open access version is available from UCL Discovery
DOI: 10.3389/fped.2019.00373
Publisher version: https://doi.org/10.3389/fped.2019.00373
Language: English
Additional information: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords: Science & Technology, Life Sciences & Biomedicine, Pediatrics, severe combined immunodeficiency, T lymphocytes, newborn screening, allogeneic hematopoietic stem cell transplantation, public health, TRANSPLANTATION, SURVIVAL, DISEASES, IDENTIFICATION, HISTORY
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Infect, Imm, Infla. and Physio Med
URI: https://discovery.ucl.ac.uk/id/eprint/10083048
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