Related Experiment Video

Updated: May 27, 2026

Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR
14:14

Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR

Published on: December 6, 2014

Primary immunodeficiency update and newborn screening

Mercedes C Amado1

  • 1University of Missouri-Kansas City School of Medicine, USA. mamado@cmh.edu

Missouri Medicine
|November 12, 2011
PubMed

Insights

Severe combined immunodeficiency (SCID) is often undetectable in newborns. Newborn screening for T cell receptor excision circles (TREC) enables early diagnosis and treatment, improving survival rates.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Severe combined immunodeficiency (SCID) often presents with no visible symptoms in newborns.
  • Early diagnosis of SCID is critical, as hematopoietic stem cell transplantation within the first three months of life significantly improves survival and reduces medical costs.

Purpose of the Study:

  • To highlight the importance of newborn screening for SCID.
  • To emphasize the role of T cell receptor excision circles (TREC) in early SCID detection.

Main Methods:

  • Newborn screening protocols.
  • Measurement of T cell receptor excision circles (TREC) as a biomarker for T cell maturation.
  • Analysis of SCID diagnosis and treatment outcomes.

Main Results:

  • Newborn screening using TREC can lead to the early diagnosis of SCID.
  • Early diagnosis facilitates timely intervention, such as hematopoietic stem cell transplantation.
  • The Secretary of Health and Human Services recommended adding TREC screening to newborn panels.

Conclusions:

  • Newborn screening for TREC is a vital tool for the early detection and management of SCID.
  • Prompt diagnosis and treatment significantly enhance survival rates and decrease healthcare burdens associated with SCID.

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