ArticleInternational journal of neonatal screening2021
First Year of TREC-Based National SCID Screening in Sweden.
Article in International journal of neonatal screening, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Newborn screening for severe combined immunodeficiency in the NHS newborn blood spot screening programme: a systematic review.Health technology assessment (Winchester, England) · 2026Pooled it
- Nationwide TREC/KREC-based newborn screening and clinical outcomes in Japan.Journal of human immunity · 2026Article
- Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.European journal of human genetics : EJHG · 2026Article
- Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants inJournal of human immunity · 2026Article
- Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program.Journal of clinical immunology · 2026Article
- 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
- Implementation Timeframes for the Addition of New Conditions to Newborn Bloodspot Screening Programmes: A Scoping Review.International journal of neonatal screening · 2025Review
- 13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.International journal of molecular sciences · 2025Article
- Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort.Journal of clinical laboratory analysis · 2025Article
- Immunological biomarkers at birth and later risk of celiac disease.BMC gastroenterology · 2025Article
- Comparison and Optimization of DNA Extraction Methods for Human DNA from Dried Blood Spot Samples.Pediatric reports · 2025Article
- Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.International journal of neonatal screening · 2025Article
- Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.Journal of clinical immunology · 2024Article
- Newborn screening for SCID: the very first prospective pilot study from Türkiye.Frontiers in immunology · 2024Article
- Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China.World journal of pediatrics : WJP · 2023Article
- Case report:Frontiers in immunology · 2023Article
- Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.Journal of clinical immunology · 2022Article
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Screening for severe combined immunodeficiency (SCID) was introduced into the Swedish newborn screening program in August 2019 and here we report the results of the first year. T cell receptor excision circles (TRECs), kappa-deleting element excision circles (KRECs), and actin beta (ACTB) levels were quantitated by multiplex qPCR from dried blood spots (DBS) of 115,786 newborns and children up to two years of age, as an approximation of the number of recently formed T and B cells and sample quality, respectively. Based on low TREC levels, 73 children were referred for clinical assessment which led to the diagnosis of T cell lymphopenia in 21 children. Of these, three were diagnosed with SCID. The screening performance for SCID as the outcome was sensitivity 100%, specificity 99.94%, positive predictive value (PPV) 4.11%, and negative predictive value (NPV) 100%. For the outcome T cell lymphopenia, PPV was 28.77%, and specificity was 99.95%. Based on the first year of screening, the incidence of SCID in the Swedish population was estimated to be 1:38,500 newborns.
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