Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards

J Pediatr. 2009 Dec;155(6):829-33. doi: 10.1016/j.jpeds.2009.05.026. Epub 2009 Jul 22.

Abstract

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.

Publication types

  • Controlled Clinical Trial

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA Repair / genetics*
  • Feasibility Studies
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Neonatal Screening / methods*
  • Predictive Value of Tests
  • Receptors, Antigen, T-Cell / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Ribonuclease P / blood
  • Severe Combined Immunodeficiency / blood
  • Severe Combined Immunodeficiency / diagnosis*
  • Severe Combined Immunodeficiency / genetics*
  • Young Adult

Substances

  • Receptors, Antigen, T-Cell
  • Ribonuclease P