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Immunol Allergy Clin North Am. 2019 Feb;39(1):1-11. doi: 10.1016/j.iac.2018.08.002. Epub 2018 Nov 1.

Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.

Author information

1
Department of Pediatrics, University of California San Francisco, 555 Mission Bay Boulevard South, San Francisco, CA 94158, USA. Electronic address: Morna.Dorsey@ucsf.edu.
2
Department of Pediatrics, University of California San Francisco, Box 3118, 555 Mission Bay Boulevard South, Rm SC-252K, San Francisco, CA 94143, USA.

Abstract

In the United States, significant improvement in diagnosis and outcomes for children affected with severe combined immunodeficiency has followed institution of newborn screening using an assay to measure T-cell receptor excision circles in newborn dried blood spot specimens. Key to this outcome is the avoidance of infectious complications in infants with severe combined immunodeficiency.

KEYWORDS:

Hematopoietic cell transplant (HCT); Newborn screen (NBS); Severe combined immunodeficiency (SCID); T-cell lymphopenia; T-cell receptor excision circles (TRECs)

PMID:
30466767
DOI:
10.1016/j.iac.2018.08.002

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