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Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
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When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a
David Buchbinder1,2, Jolan E Walter3,4, Manish J Butte5
1Department of Hematology, Children's Hospital of Orange County, Orange, CA, USA. dbuchbinder@choc.org.
Journal of Clinical Immunology
|January 7, 2021
Summary
Newborn screening identifies T cell lymphopenia using T cell receptor excision circles (TRECs). Most cases are not severe combined immunodeficiency (SCID), posing diagnostic challenges for immunologists.
Area of Science:
- Immunology
- Neonatal Screening
- Genetics
Background:
- Newborn screening for severe combined immunodeficiency (SCID) uses T cell receptor excision circles (TRECs) as biomarkers.
- While effective for SCID, TREC screening identifies many infants with T cell lymphopenia not caused by typical or atypical SCID.
Purpose of the Study:
- To address the diagnostic and management challenges of T cell lymphopenia in newborns identified by TREC screening, excluding genetically defined SCID.
- To provide guidance for evaluating and managing infants with non-SCID T cell lymphopenia.
Main Methods:
- Case-based review of diagnostic evaluation and management strategies.
- Analysis of conditions associated with abnormal TRECs and T cell lymphopenia.
Main Results:
- Typical and atypical SCID account for only 10% of abnormal TREC cases.
- Non-SCID conditions, including prematurity, secondary lymphopenias, and idiopathic T cell lymphopenia, represent 90% of identified cases.
- Lack of established guidelines complicates diagnosis and management.
Conclusions:
- Effective newborn screening for SCID via TRECs identifies a larger group of infants with non-SCID T cell lymphopenia.
- There is an urgent need for consensus and guidelines for the evaluation and management of these infants.
- A case-based approach can offer insights into managing diagnostic ambiguities and treatment dilemmas.
