ArticleJournal of clinical immunology2014
Screening of neonatal UK dried blood spots using a duplex TREC screening assay.
Article in Journal of clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 3 syntheses or guidelines pooled it, 65 citations in OpenAlex.
- Newborn screening for severe combined immunodeficiency in the NHS newborn blood spot screening programme: a systematic review.Health technology assessment (Winchester, England) · 2026Pooled it
- Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.The Journal of allergy and clinical immunology · 2022Pooled it
- TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.Journal of clinical immunology · 2015Pooled it
- Evolution of Inborn Errors of Immunity in China: Discoveries and Treatment Paradigms.Clinical reviews in allergy & immunology · 2026Review
- T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.Cell biochemistry and biophysics · 2026Article
- Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort.Journal of clinical laboratory analysis · 2025Article
- Comparison and Optimization of DNA Extraction Methods for Human DNA from Dried Blood Spot Samples.Pediatric reports · 2025Article
- 3D-Cultured MC3T3-E1-Derived Exosomes Promote Endothelial Cell Biological Function under the Effect of LIPUS.Biomolecules · 2024Article
- Newborn screening for genetic disorders: Current status and prospects for the future.Pediatric investigation · 2022Review
- Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.Frontiers in immunology · 2022Article
- Implementation of TREC/KREC detection protocol for newborn SCID screening in Bulgaria: a pilot study.Central-European journal of immunology · 2022Article
- Neonatal abstinence syndrome is a potential cause of low TREC copy number.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2021Article
- Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay.International journal of neonatal screening · 2021Article
- Evaluation of newborn screening for severe combined immunodeficiency (SCID).The British journal of general practice : the journal of the Royal College of General Practitioners · 2021Article
- Newborn Screening for SCID. Experience in Spain (Catalonia).International journal of neonatal screening · 2021Article
- Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?International journal of neonatal screening · 2021Article
- [First universal newborn screening program for severe combined immunodeficiency in Europe. Three-years' experience in Catalonia.]Revista espanola de salud publica · 2020Article
- Retrospective Analysis of a New York Newborn Screen Severe Combined Immunodeficiency Referral Center.Journal of clinical immunology · 2020Article
- The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives…one at a time.Immunologic research · 2020Article
- A Cost-Effectiveness Analysis of Newborn Screening for Severe Combined Immunodeficiency in the UK.International journal of neonatal screening · 2019Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeSevere Combined Immunodeficiency (SCID) is considered to be a paediatric emergency and unless identified promptly can be life-threatening. Frequently, infants are not diagnosed with SCID until they have become seriously ill with infection leading to treatment complications and a poorer prognosis. We aimed to test a newly available commercial duplex assay to measure T cell receptor excision circles (TRECs) to establish if this would be suitable for newborn screening for SCID in the UK.
methodsOver 5000 anonymous retrospective dried blood spots (DBS) were used alongside 18 confirmed SCID positive DBS with a newly available duplex assay to measure TRECs levels and control gene levels. We also included testing of premature babies and babies from neonatal intensive care units (NICU) as these have been shown to have high false positive rates in other TREC screening assays.
resultsAll 18 SCID DBS samples were successfully identified as SCID positives in the study. The number of presumptive positives detected was dependent on the TREC cut-off threshold settings. When analysed with five different TRECs cut-off values (20, 25, 30, 35 and 40 TREC copies/μl blood) the presumptive positive rate ranged from 0.04 to 1.00 % of samples tested. Premature infants and neonates from NICU did not show high presumed false positive rates in this assay.
conclusionsThe study demonstrated that this duplex assay kit will identify all newborns with SCID as presumptive positives. The data also shows that with suitable TREC cut-off settings the number of presumptive positives from non-SCID newborns will be manageable in the context of a national screening service.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.