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Review: Why screen for severe combined immunodeficiency disease?

C Thomas1, G Hubert1, A Catteau2

  • 1Service d'hématologie et d'immunologie pédiatrique, hôpital Mère-Enfants, CHU de Nantes, 44000 Nantes, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|September 15, 2020
PubMed
Summary

Routine newborn screening for severe combined immunodeficiency (SCID) using T-cell receptor excision circles (TRECs) in dried blood spots is feasible and effective. Early SCID detection significantly improves survival rates and quality of life for affected infants.

Keywords:
Neonatal screeningNewborn screeningPrimary immunodeficienciesRare diseasesSevere combined immunodeficiencySevere lymphopeniasTREC

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Area of Science:

  • Immunology
  • Pediatrics
  • Public Health

Background:

  • Severe combined immunodeficiency (SCID) is a life-threatening condition requiring early diagnosis and treatment.
  • Current diagnostic approaches may lead to delayed detection.
  • Newborn screening programs are expanding globally.

Purpose of the Study:

  • To evaluate the feasibility and effectiveness of routine newborn screening for SCID in France.
  • To assess the utility of T-cell receptor excision circles (TRECs) quantification for SCID detection.
  • To highlight the benefits of early SCID diagnosis on patient outcomes.

Main Methods:

  • Utilized dried blood spot (DBS) samples from newborns.
  • Quantified T-cell receptor excision circles (TRECs) as a biomarker for T cell levels.
  • Conducted the nationwide DEPISTREC study across 48 maternity units in France.

Main Results:

  • Routine SCID screening using TREC quantification is feasible and effective.
  • Early detection through screening significantly improves survival rates and quality of life.
  • The method is highly sensitive and specific for SCID detection.
  • Screening also identified non-SCID lymphopenia cases.

Conclusions:

  • Routine newborn screening for SCID is recommended.
  • Early diagnosis via TREC-based screening improves outcomes and reduces treatment costs.
  • This screening approach enhances infant health and public health strategies.