ArticleJournal of clinical immunology2014
Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.
Article in Journal of clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.Journal of clinical immunology · 2015Pooled it
- Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome.Journal of human immunity · 2026Article
- Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family.Molecular syndromology · 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
- Congenital cytomegalovirus infection in a preterm infant with 22q11.2 deletion syndrome and immunological abnormalities.Nagoya journal of medical science · 2024Article
- Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.Current allergy and asthma reports · 2023Review
- Human thymus in health and disease: Recent advances in diagnosis and biology.Seminars in immunology · 2023Review
- Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.Journal of clinical immunology · 2022Article
- Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.The Journal of allergy and clinical immunology · 2022Article
- SCID newborn screening: What we've learned.The Journal of allergy and clinical immunology · 2021Review
- Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.Frontiers in immunology · 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
- Quantification of T-Cell and B-Cell Replication History in Aging, Immunodeficiency, and Newborn Screening.Frontiers in immunology · 2019Article
- Idiopathic T cell lymphopenia identified in New York State Newborn Screening.Clinical immunology (Orlando, Fla.) · 2017Article
- Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.Journal of clinical immunology · 2017Article
- Thymus activity measured by T-cell receptor excision circles in patients with different severities of respiratory syncytial virus infection.BMC infectious diseases · 2017Article
- Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.Journal of clinical immunology · 2017Article
- Potential Role of Cortisol in Social and Memory Impairments in Individuals with 22q11.2 Deletion Syndrome.Journal of pediatric genetics · 2016Article
- Disseminated Mycobacterium kansasii disease in complete DiGeorge syndrome.Journal of clinical immunology · 2015Article
- Neonatal Levels of T-cell Receptor Excision Circles (TREC) in Patients with 22q11.2 Deletion Syndrome and Later Disease Features.Journal of clinical immunology · 2015Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePopulation-based newborn screening using T-cell receptor excision circles (TREC) identifies infants with severe T-lymphopenia, seen in severe combined immunodeficiencies (SCID), but also infants with the 22q11 deletion syndrome (22q11DS). Methods for analysis of kappa-deleting recombination excision circles (KREC) help identifying infants with B-lymphopenia. We aimed to evaluate the occurrence of abnormal TREC or KREC newborn screening results in 22q11DS patients and assessed the clinical relevance of abnormal screening reports.
methodsSimultaneous TREC and KREC analysis was performed on stored original Guthrie cards. Patients with abnormal screening reports were compared to patients with normal reports, regarding lymphocyte counts and clinical severity, obtained by retrospective analysis of medical charts.
resultsOf 48 included patients, nine (19 %) had abnormal TREC copy numbers. All 22q11DS patients with abnormal TRECs had CD3+ T-lymphopenia at the time of diagnosis, but only one patient had the complete DiGeorge syndrome. Identified 22q11DS patients with abnormal TREC copy numbers showed significantly lower CD8+ T-lymphocytes at time-of-diagnosis and were significantly more prone to viral infections, compared to 22q11DS patients with normal TREC copy numbers. All 22q11DS patients showed KREC copies within the normal range.
conclusionsIn this retrospective study a high proportion of 22q11DS patients were identified by TREC-based newborn screening. Although only one of them had the complete DiGeorge syndrome with no T-lymphocytes, all of them had T-lymphopenia and most of them had recurrent viral infections, as well as other medical problems, warranting early recognition of the syndrome.
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