ArticleClinical and experimental immunology2010
Low thymic output in the 22q11.2 deletion syndrome measured by CCR9+CD45RA+ T cell counts and T cell receptor rearrangement excision circles.
Article in Clinical and experimental immunology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Immune System Abnormalities in Schizophrenia: An Integrative View and Translational Perspectives.Frontiers in psychiatry · 2022Pooled it
- Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.Frontiers in immunology · 2019Trial
- Follicular Helper T Cells and B Cell Maturation in Patients with 22q11.2 Deletion Syndrome and Recurrent Infections.Journal of clinical immunology · 2026Article
- The systemic effects of 22q11.2 deletion syndrome on immunity.Journal of human immunity · 2026Review
- Decoding Immunodeficiencies with Artificial Intelligence: A New Era of Precision Medicine.Biomedicines · 2025Review
- Validation of Artificial Intelligence (AI)-Assisted Flow Cytometry Analysis for Immunological Disorders.Diagnostics (Basel, Switzerland) · 2024Article
- Developmental dynamics of the neural crest-mesenchymal axis in creating the thymic microenvironment.Science advances · 2022Article
- Accelerated Maturation, Exhaustion, and Senescence of T cells in 22q11.2 Deletion Syndrome.Journal of clinical immunology · 2022Article
- Premature Senescence and Increased Oxidative Stress in the Thymus of Down Syndrome Patients.Frontiers in immunology · 2021Article
- [Asymmetric crying facies and vocal cord paralysis accompanied by congenital heart disease in an infant].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- A pilot study on immuno-psychiatry in the 22q11.2 deletion syndrome: A role for Th17 cells in psychosis?Brain, behavior, and immunity · 2018Article
- Follicular Helper T Cells in DiGeorge Syndrome.Frontiers in immunology · 2018Article
- T Cell Receptor Excision Circle (TREC) Monitoring after Allogeneic Stem Cell Transplantation; a Predictive Marker for Complications and Clinical Outcome.International journal of molecular sciences · 2016Review
- 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
- Newborn screening for SCID in New York State: experience from the first two years.Journal of clinical immunology · 2014Article
- A call to include severe combined immunodeficiency in newborn screening program.Rambam Maimonides medical journal · 2014Article
- The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome.PloS one · 2014Article
- Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.Frontiers in immunology · 2013Review
- Use of V(D)J recombination excision circles to identify T- and B-cell defects and to monitor the treatment in primary and acquired immunodeficiencies.Journal of translational medicine · 2013Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Thymic hypoplasia is a frequent feature of the 22q11.2 deletion syndrome, but we know little about patients' age-related thymic output and long-term consequences for their immune system. We measured the expression of T cell receptor rearrangement excision circles (TREC) and used flow cytometry for direct subtyping of recent thymic emigrant (RTE)-related T cells in 43 patients (aged 1-54 years; median 9 years) from all over Norway and in age-matched healthy controls. Thymic volumes were estimated by ultrasound in patients. TREC levels correlated well with RTE-related T cells defined by co-expression of CD3, CD45RA and CCR9 (r=0.84) as well as with the CD4+ and CD8+ T cell subtypes. RTE-related T cell counts also paralleled age-related TREC reductions. CD45RA+ T cells correlated well with absolute counts of CD4+ (r=0.87) and CD8+ (r=0.75) RTE-related T cells. Apart from CD45RA- T cells, all T cell subsets were lower in patients than in controls. Thymic volumes correlated better with RTE-related cells (r=0.46) than with TREC levels (r=0.38). RTE-related T cells and TREC levels also correlated well (r=0.88) in patients without an identifiable thymus. Production of RTEs is impaired in patients with a 22q11.2 deletion, and CCR9 appears to be a good marker for RTE-related T cells.
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