Establishing Newborn Screening for SCID in the USA: Experience in California

Abstract

by Jennifer M. Puck andAndrew R. Gennery
Int. J. Neonatal Screen. 2021, 7(4), 72; https://doi.org/10.3390/ijns7040072 - 2022
Cited by 9 | Viewed by 3943
Abstract
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. Full article
(This article belongs to the Special Issue Newborn Screening for Severe Combined Immune Deficiency—Selected Papers from the ISNS-SCID Meeting)
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53 pages, 402 KiB
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