ArticleMolecular genetics and metabolism reports2014
Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases.
Article in Molecular genetics and metabolism reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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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.
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Who cites it
11 citing papers in PubMed.
- Clinical Significance of IKBKB Mutations:Saudi medical journal · 2026Review
- The clinical and socioeconomic aspects of t-cell receptor excision circle based newborn screening for severe combined immunodeficiency in Southeast and East Asia.Frontiers in immunology · 2025Review
- Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.The journal of allergy and clinical immunology. In practice · 2021Article
- 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
- Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency.Clinical immunology (Orlando, Fla.) · 2019Article
- Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis.Journal of clinical immunology · 2018Article
- Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada.International journal of neonatal screening · 2018Article
- Defective thymic output in WAS patients is associated with abnormal actin organization.Scientific reports · 2017Article
- Long-Term Outcomes of Hematopoietic Stem Cell Transplantation for ZAP70 Deficiency.Journal of clinical immunology · 2016Article
- Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites.BMC medical genetics · 2016Article
- History and current status of newborn screening for severe combined immunodeficiency.Seminars in perinatology · 2015Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In Manitoba, Canada, the overall incidence of Severe Combined Immunodeficiency (SCID) is three-fold higher than the national average, with SCID overrepresented in two population groups: Mennonites and First Nations of Northern Cree ancestries. T-cell receptor excision circle (TREC) assay is being used increasingly for neonatal screening for SCID in North America. However, the majority of SCID patients in Manitoba are T-cell-positive. Therefore it is likely that the TREC assay will not identify these infants. The goal of this study was to blindly and retrospectively perform TREC analysis in confirmed SCID patients using archived Guthrie cards. Thirteen SCID patients were tested: 5 T-negative SCID (3 with adenosine deaminase deficiency, 1 with CD3δ deficiency, and 1 unclassified) and 8 T-positive SCID (5 with zeta chain-associated protein kinase (ZAP70) deficiency and 3 with inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKKβ) deficiency). As a non-SCID patient group, 5 Primary Immunodeficiency Disease (PID) patients were studied: 1 T-negative PID (cartilage-hair hypoplasia) and 4 T-positive PID (2 common immune deficiency (CID), 1 Wiskott-Aldrich syndrome, and 1 X-linked lymphoproliferative disease). Both patient groups required hematopoietic stem cell transplantation. In addition, randomly-selected de-identified controls (n = 982) were tested.
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