Review: Why screen for severe combined immunodeficiency disease?

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.