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Updated: Jun 21, 2026
Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR
Published on: December 6, 2014
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal
Yoichi Morinishi1, Kohsuke Imai, Noriko Nakagawa
1Department of Pediatrics, National Defense Medical College, Saitama, Japan.
Objective:
To assess the feasibility of T-cell receptor excision circles (TRECs) quantification for neonatal mass screening of severe combined immunodeficiency (SCID).
Study Design:
Real-time PCR based quantification of TRECs for 471 healthy control patients and 18 patients with SCID with various genetic abnormalities (IL2RG, JAK3, ADA, LIG4, RAG1) were performed, including patients with maternal T-cell engraftment (n = 4) and leaky T cells (n = 3).
Results:
TRECs were detectable in all normal neonatal Guthrie cards (n = 326) at the levels of 10(4) to 10(5) copies/microg DNA. In contrast, TRECs were extremely low in all neonatal Guthrie cards (n = 15) and peripheral blood (n = 14) from patients with SCID, including those with maternal T-cell engraftment or leaky T cells with hypomorphic RAG1 mutations or LIG4 deficiency. There were no false-positive or negative results in this study.
Conclusion:
TRECs quantification can be used as a neonatal mass screening for patients with SCID.
