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Newborn Screening for Severe Combined Immunodeficiency.

John Routes1,2, James Verbsky3,4

  • 1Department of Pediatrics, Medical College of Wisconsin, 9000 W Wisconsin Ave., Milwaukee, WI, 53226-4874, USA. jroutes@mcw.edu.

Current Allergy and Asthma Reports
|May 12, 2018
PubMed
Summary

Newborn screening for severe combined immunodeficiency (SCID) uses the T cell receptor excision circle (TREC) assay. This highly sensitive test identifies infants with SCID and other causes of T cell lymphopenia.

Keywords:
Hematopoietic stem cell transplantationNewborn screeningSevere combined immunodeficiencyT cell lymphopeniaT cell receptor excision circleTREC assay

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Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Severe combined immunodeficiency (SCID) is a group of rare genetic disorders characterized by a severe deficiency of naïve T cells.
  • Newborn screening (NBS) for SCID is crucial for early diagnosis and intervention.
  • The T cell receptor excision circle (TREC) assay is a widely adopted method for NBS of SCID.

Purpose of the Study:

  • To provide a historical overview of NBS for SCID.
  • To explain the theoretical basis and application of the TREC assay in NBS.
  • To offer guidance for evaluating infants with abnormal TREC assay results.

Main Methods:

  • Review of historical data and current practices in SCID NBS.
  • Analysis of the TREC assay's sensitivity and specificity.
  • Discussion of clinical implications and follow-up strategies for infants identified through NBS.

Main Results:

  • NBS for SCID is implemented in most US states, utilizing the TREC assay.
  • The TREC assay is highly sensitive for detecting SCID and other forms of T cell lymphopenia.
  • TRECs serve as biomarkers for newly formed T cells, indicating thymic output.

Conclusions:

  • The TREC assay is an effective tool for NBS of SCID.
  • Abnormal TREC results warrant further investigation to identify the underlying cause of T cell deficiency.
  • Early detection and management of SCID through NBS significantly improve infant outcomes.