Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice

Area of Science:

• Immunology
• Genetics
• Public Health

Background:

• Population-based newborn screening aims to detect severe diseases early for effective treatment.
• Primary immunodeficiency diseases (PID) are a diverse group of genetic immune system disorders.
• Severe combined immunodeficiency (SCID) is a fatal PID without prompt intervention.

Observation:

• Screening for SCID using T cell receptor excision circles (TREC) is widely adopted.
• Kappa-recombining excision circles (KREC) analysis aids in identifying severe PID with T and B cell lymphopenia.
• TREC and KREC screening enhance early diagnosis of PIDs.

Findings:

• TREC-based screening is effective for SCID detection.
• Combined TREC/KREC screening expands PID detection to include B cell deficiencies.
• Review of historical and current newborn screening methodologies for PID.

Implications:

• Early diagnosis and treatment of PID significantly improve infant outcomes.
• Future screening may incorporate protein assays, targeted sequencing, and next-generation sequencing (NGS).
• Advancements in screening technologies promise broader and more precise detection of PIDs.