ArticleThe journal of allergy and clinical immunology. In practice2022
Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.
Article in The journal of allergy and clinical immunology. In practice, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 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
- Optimizing TREC- and KREC-based newborn screening: Risk-stratified algorithms significantly reduce referrals.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026Article
- Modeling and correction of SCID-X1 using CRISPR-Cas9 homology-directed repair in human HSPCs.Molecular therapy. Nucleic acids · 2026Article
- Reticular Dysgenesis in an Extremely Low Birth Weight Infant: A Case Report.Journal of clinical immunology · 2026Article
- Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program.Journal of clinical immunology · 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
- SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain).Frontiers in immunology · 2026Article
- A novelFrontiers in genetics · 2025Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Perspective - Was it All for Nothing?Journal of clinical immunology · 2024Article
- Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening.Journal of clinical immunology · 2024Article
- Newborn screening for SCID: the very first prospective pilot study from Türkiye.Frontiers in immunology · 2024Article
- CRISPR-Cas9 engineering of the RAG2 locus via complete coding sequence replacement for therapeutic applications.Nature communications · 2023Article
- Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.Lancet (London, England) · 2023Article
- Multiplex HDR for disease and correction modeling of SCID by CRISPR genome editing in human HSPCs.Molecular therapy. Nucleic acids · 2023Article
- Congenital Athymia: Unmet Needs and Practical Guidance.Therapeutics and clinical risk management · 2023Review
- Combined immunodeficiency caused by pathogenic variants in theFrontiers in immunology · 2023Article
- A Spot of Good News: Israeli Experience With SCID Newborn Screening.The journal of allergy and clinical immunology. In practice · 2022Article
Corrections and comments
- Commented on by
Authors and funding
21 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundImplementation of newborn screening (NBS) programs for severe combined immunodeficiency (SCID) have advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes. Reporting long-term follow-up of such programs is of great importance.
objectiveWe report a 5-year summary of the NBS program for SCID in Israel.
methodsImmunologic and genetic assessments, clinical analyses, and outcome data from all infants who screened positive were evaluated and summarized.
resultsA total of 937,953 Guthrie cards were screened for SCID. A second Guthrie card was requested on 1,169 occasions (0.12%), which resulted in 142 referrals (0.015%) for further validation tests. Flow cytometry immune-phenotyping, T cell receptor excision circle measurement in peripheral blood, and expression of TCRVβ repertoire for the validation of positive cases revealed a specificity and sensitivity of 93.7% and 75.9%, respectively, in detecting true cases of SCID. Altogether, 32 SCID and 110 non-SCID newborns were diagnosed, making the incidence of SCID in Israel as high as 1:29,000 births. The most common genetic defects in this group were associated with mutations in DNA cross-link repair protein 1C and IL-7 receptor α (IL-7Rα) genes. No infant with SCID was missed during the study time. Twenty-two SCID patients underwent hematopoietic stem cell transplantation, which resulted in a 91% survival rate.
conclusionsNewborn screening for SCID should ultimately be applied globally, specifically to areas with high rates of consanguineous marriages. Accumulating data from follow-up studies on NBS for SCID will improve diagnosis and treatment and enrich our understanding of immune development in health and disease.
Indexed as
Identifiers
What OpenQuestion holds
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.