Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned

Immunol Allergy Clin North Am. 2019 Feb;39(1):1-11. doi: 10.1016/j.iac.2018.08.002. Epub 2018 Nov 1.

Abstract

In the United States, significant improvement in diagnosis and outcomes for children affected with severe combined immunodeficiency has followed institution of newborn screening using an assay to measure T-cell receptor excision circles in newborn dried blood spot specimens. Key to this outcome is the avoidance of infectious complications in infants with severe combined immunodeficiency.

Keywords: Hematopoietic cell transplant (HCT); Newborn screen (NBS); Severe combined immunodeficiency (SCID); T-cell lymphopenia; T-cell receptor excision circles (TRECs).

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Combined Modality Therapy
  • Disease Management
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Infant, Newborn
  • Lymphopenia
  • Neonatal Screening
  • Receptors, Antigen, T-Cell / metabolism
  • Severe Combined Immunodeficiency / diagnosis
  • Severe Combined Immunodeficiency / epidemiology*
  • Severe Combined Immunodeficiency / etiology
  • Severe Combined Immunodeficiency / therapy
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • United States / epidemiology

Substances

  • Receptors, Antigen, T-Cell