SynthesisJournal of clinical immunology2015
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.
Synthesis in Journal of clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 2 of them syntheses that pooled it.
What it found
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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
83 citing papers in PubMed, 2 syntheses or guidelines pooled it, 160 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
- Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.Journal of clinical immunology · 2019Pooled it
- Second-tier genetics improves newborn screening accuracy for SCID and other T cell deficiencies.Journal of human immunity · 2026Article
- Managing non-SCID T cell lymphopenia after TREC-based newborn screening.Journal of human immunity · 2026Article
- First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.Frontiers in immunology · 2026Article
- The Role of Immune Markers in Predicting Infectious Complications in Children with Congenital Heart Defects.Current pediatric reviews · 2026Review
- A State of the Art Review on the Recalcitrant Candidiasis as a Clue of Inborn Errors of Immunity in Newborns.Journal of immunology research · 2026Review
- 13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.International journal of molecular sciences · 2025Article
- Article
- Comparing DNA Isolation and Preparation Protocols for Dried Blood Spots in the Context of Genomic Newborn Screening.International journal of neonatal screening · 2025Article
- Article
- Seasonal Fluctuations and Stability of Adenosine in Dried Blood Spots for Neonatal Screening.International journal of neonatal screening · 2025Article
- Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort.Journal of clinical laboratory analysis · 2025Article
- Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID.Journal of clinical immunology · 2025Article
- Disseminated BCG infection and rotavirus enteritis in an infant with severe immunodeficiency: a causal association study.Frontiers in public health · 2025Article
- The clinical and socioeconomic aspects of t-cell receptor excision circle based newborn screening for severe combined immunodeficiency in Southeast and East Asia.Frontiers in immunology · 2025Review
- A high-sensitivity, high-throughput newborn screening assay for congenital cytomegalovirus-is it time for universal screening in the United Kingdom?Frontiers in pediatrics · 2025Article
- First pilot study for newborn screening of severe T and B lymphopenias in ColombiaBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Article
- Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.Children (Basel, Switzerland) · 2024Article
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNewborn screening (NBS) by quantifying T cell receptor excision circles (TRECs) in neonatal dried blood spots (DBS) enables early diagnosis of severe combined immunodeficiency disease (SCID). In recent years, different screening algorithms for TREC based SCID screening were reported. PURPOSE: To systematically review the diagnostic performance of published algorithms for TREC based NBS for SCID.
methodsPubMed, EMBASE and the Cochrane Library were systematically searched for case series and prospective cohort studies describing TREC based NBS for SCID. We extracted TREC content and cut-off values, number of retests, repeat DBS and referrals, and type and number of typical SCID and other T cell lymphopenia (TCL) cases. We calculated positive predictive value (PPV), test sensitivity and SCID incidence.
resultsThirteen studies were included, re-confirming 89 known SCID cases in case series and reporting 53 new SCID cases in 3.15 million newborns. In case series, the sensitivity for typical SCID was 100%. In the prospective cohort studies, SCID incidence was ~1.7:100,000, re-test rate was 0.20-3.26%, repeat DBS rate 0.0-0.41% and referral rate 0.01-1.35%. PPV within the five largest cohorts was 0.8-11.2% for SCID and 18.3-81.0% for TCL. Individual TREC contents in all SCID patients was <25 TRECs/μl (except in those evaluated with the New York State assay).
conclusionsThe sensitivity of TREC based NBS for typical SCID was 100 %. The TREC cut-off score determines the percentage of non-SCID TCL cases detected in newborn screening for TCL. Adapting the screening algorithm for pre-term/ill infants reduces the amount of false positive test results.
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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.