Newborn Screening for Severe Combined Immunodeficiency and T-Cell Lymphopenia in California, 2010-2017

Date: February 20, 2020

Newborn screening for Severe Combined Immunodeficiency (SCID) was instituted in California in 2010. In the ensuing six and a half years, 3,252,156 infants in the state had DNA from dried blood spots (DBS) assayed for T-cell receptor excision circles (TRECs). Abnormal TREC results were followed up with liquid blood testing for T-cell abnormalities. This open-access publication reports the performance of the SCID screening program and the outcomes of infants who were identified. 

 

Amatuni, G. S et al., (2019). Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. Pediatrics, 142(2), e20182300. http://doi.org/10.1542/peds.2018-2300