ArticleMolecular genetics & genomic medicine2019
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 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
- The systemic effects of 22q11.2 deletion syndrome on immunity.Journal of human immunity · 2026Review
- SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain).Frontiers in immunology · 2026Article
- Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort.Journal of clinical laboratory analysis · 2025Article
- Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.Journal of clinical immunology · 2024Article
- Impact of newborn screening for SCID on the management of congenital athymia.The Journal of allergy and clinical immunology · 2024Article
- In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.PloS one · 2024Article
- Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation.Translational psychiatry · 2023Article
- [First universal newborn screening program for severe combined immunodeficiency in Europe. Three-years' experience in Catalonia.]Revista espanola de salud publica · 2020Article
- Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).Molecular genetics & genomic medicine · 2019Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measure T-cell receptor excision circles (TRECs), a byproduct of correct T-cell development. However, in addition to SCID, other T-cell-deficient phenotypes such as 22q11.2 deletion syndrome 22q11.2 duplication syndrome, CHARGE syndrome, and trisomy 21 are detected.
methodsWe present our experience with the detection of 22q11.2 deletion syndrome and 22q11.2 duplication syndrome in a series of 103,903 newborns included in the newborn screening program of Catalonia (Spain).
resultsThirty newborns tested were positive (low TREC levels) and five were found to have copy number variations at the 22q11 region (4 deletions and 1 duplication) when investigated with array comparative genomic hybridization technology and MLPA.
conclusionNewborn screening for SCID enables detection of several conditions, such as 22q syndromes, which should be managed by prompt, proactive approaches with adequate counseling for families by a multidisciplinary team.
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