ArticleJournal of clinical immunology2015
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
Article in Journal of clinical immunology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Inborn errors of immunity with DNA repair disorders: at the interface of immune deficiency, immune dysregulation, and malignancy.Frontiers in immunology · 2026Review
- Disruption of the moonlighting function of CTF18 in a patient with T-lymphopenia.Frontiers in immunology · 2025Article
- Review
- SCID newborn screening: What we've learned.The Journal of allergy and clinical immunology · 2021Review
- TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.Clinical and experimental immunology · 2020Article
- Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency.Current allergy and asthma reports · 2020Review
- Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.Frontiers in immunology · 2020Article
- Chromosome instability syndromes.Nature reviews. Disease primers · 2019Review
- Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.Pediatrics · 2019Article
- Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.Human mutation · 2017Article
- Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.Journal of clinical immunology · 2017Review
- DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation.BioMed research international · 2017Review
- Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT).Frontiers in immunology · 2017Article
- Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.The New England journal of medicine · 2016Article
- A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.The Journal of experimental medicine · 2016Article
- Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.Journal of clinical immunology · 2015Article
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Authors and funding
9 authors at 6 institutions in 2 countries.
Funding
Abstract
purposeSevere combined immunodeficiency (SCID) encompasses a group of disorders characterized by reduced or absent T-cell number and function and identified by newborn screening utilizing T-cell receptor excision circles (TRECs). This screening has also identified infants with T lymphopenia who lack mutations in typical SCID genes. We report an infant with low TRECs and non-SCID T lymphopenia, who proved upon whole exome sequencing to have Nijmegen breakage syndrome (NBS).
methodsExome sequencing of DNA from the infant and his parents was performed. Genomic analysis revealed deleterious variants in the NBN gene. Confirmatory testing included Sanger sequencing and immunoblotting and radiosensitivity testing of patient lymphocytes.
resultsTwo novel nonsense mutations in NBN were identified in genomic DNA from the family. Immunoblotting showed absence of nibrin protein. A colony survival assay demonstrated radiosensitivity comparable to patients with ataxia telangiectasia.
conclusionsAlthough TREC screening was developed to identify newborns with SCID, it has also identified T lymphopenic disorders that may not otherwise be diagnosed until later in life. Timely identification of an infant with T lymphopenia allowed for prompt pursuit of underlying etiology, making possible a diagnosis of NBS, genetic counseling, and early intervention to minimize complications.
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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.