ArticleInternational journal of neonatal screening2021
Newborn Screening for SCID. Experience in Spain (Catalonia).
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 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 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
- 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
- Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program.Journal of clinical immunology · 2026Article
- Managing non-SCID T cell lymphopenia after TREC-based newborn screening.Journal of human immunity · 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
- Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID.Journal of clinical immunology · 2025Article
- 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 SCID: the very first prospective pilot study from Türkiye.Frontiers in immunology · 2024Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Human thymus in health and disease: Recent advances in diagnosis and biology.Seminars in immunology · 2023Review
- Congenital Athymia: Unmet Needs and Practical Guidance.Therapeutics and clinical risk management · 2023Review
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing. In Spain, a pilot study with 5000 samples was carried out in Seville in 2014; also, a research project with about 35,000 newborns will be carried out in 2021-2022 in the NBS laboratory of Eastern Andalusia. At present, the inclusion of SCID is being evaluated in Spain. The results obtained in the first three and a half years of experience in Catalonia are presented here. All babies born between January-2017 and June-2020 were screened through TREC-quantification in DBS with the Enlite Neonatal TREC-kit from PerkinElmer. A total of 222,857 newborns were screened, of which 48 tested positive. During the study period, three patients were diagnosed with SCID: an incidence of 1 in 74,187 newborns; 17 patients had clinically significant T-cell lymphopenia (non-SCID) with an incidence of 1 in 13,109 newborns who also benefited from the NBS program. The results obtained provide further evidence of the benefits of early diagnosis and curative treatment to justify the inclusion of this disease in NBS programs. A national NBS program is needed, also to define the exact SCID incidence in Spain.
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