Newborn Screening for Severe Combined Immunodeficiency

Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) has been successfully implemented in all 50 United States and Puerto Rico from 2008-2018. This life-saving tool drastically improved overall survival of babies diagnosed with SCID 74% to 96%. TREC is a stable, circular DNA molecule that produced during the process T-cell receptor (TCR) rearrangement target quantitative PCR screen on Guthrie cards. Low TRECs are marker low naive T cell numbers. new facilitated discovery genes cause SCID, data patients as well other causes infant lymphopenia. information prompted Primary Immune Disease Treatment Consortium re-classify diagnosis 2022. Providers who first recipients positive must understand laboratory methods screen, treatment recommendations options those relevant such 22q11 syndrome, Ataxia Telangiectasia, prematurity. These topics crucial cover when reporting results family receiving unexpected news their otherwise appearing newborn. Prompt medical evaluation prophylaxis have shown improve outcomes, providers play an essential role relaying this care families. While proven be valuable conditions lymphopenia, over 500 immune deficiency diseases exist, expansion include these NBS could possible Next Generation Sequencing future.