Neurologic event–free survival demonstrates a benefit for SCID patients diagnosed by newborn screening

Abstract

Severe combined immunodeficiency (SCID) may be diagnosed via newborn screening (NBS) by measuring T-cell receptor excision circles. The incidence of SCID has risen, and this is rise attributed to the identification of patients who would have previously died of infections without being diagnosed. atients with SCID who undergo allogeneic hematopoietic cell transplant (HCT) at ,3.5 months of age have excellent overall survival (OS), 3 and a positive family history also improves OS. However, OS does not capture long-term quality of life. Novel end points have been proposed to address this limitation, including graft-versus-host disease-free survival 7 and activities of daily living-compromise-free survival. We have observed that some survivors of HCT for SCID have longterm impairment due to infection-related neurologic insults. We hypothesized that patients diagnosed by NBS, who received prompt isolation, infection prophylaxis, and HCT would avoid long-term neurologic impairment (NI) with excellent outcomes using the novel end point of neurologic event-free survival (NEFS).