Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management

Morna Dorsey; Jennifer Puck

doi:10.3390/ijns3020015

Newborn Screening for Severe Combined Immunodeficiency in the US: Current Status and Approach to Management

Int J Neonatal Screen. 2017 Jun;3(2):15. doi: 10.3390/ijns3020015. Epub 2017 Jun 21.

Authors

Morna Dorsey¹, Jennifer Puck²

Affiliations

¹ Department of Pediatrics, Division of Allergy, Immunology and Bone Marrow Transplant, University of California San Francisco, San Francisco, CA 94158, USA.
² Smith Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA 94158, USA.

Abstract

In the US, the assay of T cell receptor excision circles (TRECs) in newborn dried blood spot specimens to detect severe combined immunodeficiency (SCID) was first piloted in 2008 in the state of Wisconsin. It has been rapidly adopted with 49 states and Puerto Rico now either routinely screening all newborns or planning to do so in 2017. Advances in SCID NBS over the last 9 years have revolutionized the ability to detect SCID and has led to profound improvement in outcomes of affected children.

Keywords: Severe combined immunodeficiency; T lymphopenia; TRECs; newborn screening; preterm.

Abstract

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