ReviewJournal of human immunity2025
Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening.
Review in Journal of human immunity, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed.
- Clinical and therapeutic impact of newborn screeningbased early detection of ataxia-telangiectasia.Haematologica · 2026Article
- Ethical and Clinical Boundaries in Genomics & Newborn Screening: A Brief Report from IPIC2025.International journal of neonatal screening · 2026Article
- Managing non-SCID T cell lymphopenia after TREC-based newborn screening.Journal of human immunity · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ataxia telangiectasia (AT) is a rare autosomal recessive disease with progressive cerebellar neurodegeneration, variable degree of (combined) immunodeficiency, and increased risk of lymphoid malignancies. Especially patients with the hyper-IgM phenotype (HIGM-AT) are at risk for early-onset infections, cancer, and poor survival. AT can be a secondary finding in the T cell receptor excision circles (TRECs) based newborn screening for severe combined immunodeficiency, resulting in an early AT diagnosis, which poses challenges with respect to clinical management. It is yet unclear whether the positive TREC screening result is indicative for increased risk of the HIGM-AT phenotype. Here, we review the available literature on newborn screening outcomes and neonatal TREC levels in patients with AT. In addition, we discuss the available symptomatic treatment options for AT, including preemptive hematopoietic stem cell transplantation (HSCT), gene therapy, nicotinamide riboside (vitamin B3), and corticosteroids
Identifiers
What OpenQuestion holds
Registered trials
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.