Cause of Death in Neonates with Inconclusive or Abnormal T-cell Receptor Excision Circle Assays on Newborn Screening

Introduction During the first 2 years of newborn screening (NBS) for severe combined immunodeficiency (SCID), 39 infants with an abnormal or inconclusive newborn screening test for SCID died prior to assessment of immune function. We investigated if SCID or primary T-cell lymphopenia likely contributed to the death of these neonates. Methods This study is a detailed retrospective chart review. Results Medical records were available in all 39 infants. Three neonates were full-term infants whose deaths were due to congenital anomalies. Thirty-three infants were born