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[Neonatal screening of severe combined immunodeficiencies]

C Thomas1, S Mirallié2, C Pierres3

  • 1Service d'hématologie et d'immunologie pédiatrique, hôpital Mère-Enfants, 7, quai Moncousu, 44000 Nantes, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|April 22, 2015
PubMed

Insights

Newborn screening for Severe Combined Immunodeficiencies (SCID) using TREC analysis is effective. Early detection through universal screening significantly improves survival rates and is cost-effective for infants.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Context:

  • Severe Combined Immunodeficiencies (SCID) are inherited immune system disorders affecting T-cell development.
  • Infants with SCID face life-threatening infections if not diagnosed and treated promptly.
  • Newborn screening is crucial as SCID is asymptomatic at birth but fatal within the first year without intervention.

Purpose:

  • To evaluate the clinical utility and cost-effectiveness of a nationwide newborn screening program for SCID in France.
  • To demonstrate the benefits of universal SCID screening in early detection and improved outcomes.
  • To assess the feasibility of using T-cell receptor excision circles (TRECs) for SCID screening.

Summary:

  • A prospective nationwide study screened 200,000 French newborns for SCID over two years.
  • The screening utilized the quantification of T-cell receptor excision circles (TRECs) in Guthrie samples.
  • The study aimed to confirm SCID's suitability for population-based screening due to its treatability and impact on survival.

Impact:

  • Early detection of SCID through universal screening significantly improves infant survival.
  • Hematopoietic stem cell transplantation, when performed early, enhances immune reconstitution and quality of life.
  • The study suggests that universal SCID screening is clinically beneficial and relatively cost-effective despite the disease's low incidence.

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