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Establishing newborn screening for SCID in the USA; experience in California

Lookup NU author(s): Professor Andrew GenneryORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© 2021 by the authors. Licensee MDPI, Basel, Switzerland. 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.

Publication metadata

Author(s): Puck JM, Gennery AR

Publication type: Review

Publication status: Published

Journal: International Journal of Neonatal Screening

Year: 2021

Volume: 7

Issue: 4

Online publication date: 31/10/2021

Acceptance date: 28/10/2021

ISSN (electronic): 2409-515X

Publisher: MDPI

URL: https://doi.org/10.3390/ijns7040072

DOI: 10.3390/ijns7040072

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