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

Morna J Dorsey1, Jennifer M Puck2

  • 1Department of Pediatrics, University of California San Francisco, 555 Mission Bay Boulevard South, San Francisco, CA 94158, USA.

Immunology and Allergy Clinics of North America
|November 24, 2018
PubMed

Insights

Newborn screening for severe combined immunodeficiency (SCID) in the US has improved diagnosis and outcomes. Early detection prevents infectious complications in infants with SCID.

Area of Science:

  • Immunology
  • Pediatrics
  • Genetics

Background:

  • Severe combined immunodeficiency (SCID) is a group of rare genetic disorders characterized by profound defects in T-cell function.
  • Historically, SCID diagnosis relied on clinical symptoms, often leading to delayed treatment and increased mortality due to opportunistic infections.
  • The institution of newborn screening programs has revolutionized the management of SCID.

Purpose of the Study:

  • To evaluate the impact of newborn screening for SCID on diagnosis and patient outcomes in the United States.
  • To highlight the critical role of early detection in preventing infectious complications.

Main Methods:

  • Implementation of newborn screening using T-cell receptor excision circles (TRECs) assay on dried blood spots.
  • Analysis of diagnostic rates and clinical outcomes in infants identified through screening.

Main Results:

  • Significant improvements in the diagnosis of SCID have been observed following the widespread adoption of newborn screening.
  • Early identification via TREC assays has led to better outcomes for affected infants.
  • Avoidance of severe infectious complications is a key benefit of timely SCID diagnosis and intervention.

Conclusions:

  • Newborn screening for SCID is highly effective in improving early diagnosis and patient outcomes.
  • The TREC assay is a valuable tool for identifying infants with SCID at birth.
  • Preventing infections through early detection is paramount for improving survival rates in infants with SCID.

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

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