Positive Newborn Screening for Severe Combined Immunodeficiency: What Should the Pediatrician Do?
Wimwipa Mongkonsritragoon1,2, Jenny Huang1,2, Mary Fredrickson1
1Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, Children's Hospital of Michigan, Detroit, MI, USA.
Insights
Severe combined immunodeficiency (SCID) is diagnosed via newborn screening using T-cell receptor excision circles (TRECs). Early detection and management are crucial for infant survival and preventing severe infections.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Severe combined immunodeficiency (SCID) presents as severe cellular and humoral immune defects due to low T-cell counts and impaired function.
- Prompt diagnosis and treatment are critical for infant survival, as delayed care significantly reduces outcomes.
- Newborn screening using T-cell receptor excision circle (TREC) levels aids in the early identification of SCID.
Purpose of the Study:
- To review the principles of TREC-based newborn screening for SCID.
- To discuss the genetics and subtypes of SCID.
- To outline the management approach for infants with positive TREC screening results.
Main Methods:
- Utilizing case-based scenarios to illustrate key concepts.
- Reviewing the application of TREC levels in newborn screening protocols.
- Summarizing current understanding of SCID genetics and clinical presentations.
Main Results:
- TREC measurement is an effective tool for early SCID detection in newborns.
- Understanding SCID subtypes and their genetic basis is essential for tailored management.
- Primary care providers play a vital role in initial guidance and care coordination for affected infants.
Conclusions:
- Early identification of SCID through TREC screening improves infant survival rates.
- Comprehensive management involves anticipatory guidance on infection prevention and specialist coordination.
- Pediatricians and primary care providers must be knowledgeable about SCID screening and initial care pathways.
Abstract:
Severe combined immunodeficiency (SCID) is a group of diseases characterized by low T-cell count and impaired T-cell function, resulting in severe cellular and humoral immune defects. If not diagnosed and treated promptly, infants affected by this condition can develop severe infections which will result in death. Delayed treatment can markedly reduce the survival outcome of infants with SCID. T-cell receptor excision circle (TREC) levels are measured on newborn screening to promptly identify infants with SCID. It is important for primary care providers and pediatricians to understand the approach to managing infants with positive TREC-based newborn screening as they may be the first contact for infants with SCID. Primary care providers should be familiar with providing anticipatory guidance to the family in regard to protective isolation, measures to minimize the risk of infection, and the coordination of care with the SCID coordinating center team of specialists. In this article, we use case-based scenarios to review the principles of TREC-based newborn screening, the genetics and subtypes of SCID, and management for an infant with a positive TREC-based newborn screen.
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