ArticleClinical immunology (Orlando, Fla.)2010
Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Article in Clinical immunology (Orlando, Fla.), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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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
49 citing papers in PubMed.
- Vitamin D status and the immune assessment in 22q11.2 deletion syndrome.Clinical and experimental immunology · 2020Trial
- Transgenic expression of microRNA-185 causes a developmental arrest of T cells by targeting multiple genes including Mzb1.The Journal of biological chemistry · 2013Trial
- Adoptive transfer of autologous T cells improves T-cell repertoire diversity and long-term B-cell function in pediatric patients with neuroblastoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2012Trial
- Transjugular Leadless Pacemaker in a Preschool Child With Nickel-Titanium Allergy.JACC. Case reports · 2026Article
- IgE Production Beyond Classical T-Cell Help.Immune network · 2026Review
- 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
- Single cell RNA-seq analysis of hematopoietic cell types in 22q11.2 deletion syndrome reveals significant changes to non-T cells.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2025Article
- Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes.Clinical reviews in allergy & immunology · 2025Review
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.Internal medicine journal · 2024Review
- Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome.Journal of clinical immunology · 2024Article
- Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome.Metabolomics : Official journal of the Metabolomic Society · 2024Article
- Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.Genetics research · 2024Article
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.Current allergy and asthma reports · 2023Review
- Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.Journal of clinical immunology · 2023Review
- 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.International journal of medical sciences · 2023Article
- Surgical insights and management in patients with the 22q11.2 deletion syndrome.Pediatric surgery international · 2022Article
- Accelerated Maturation, Exhaustion, and Senescence of T cells in 22q11.2 Deletion Syndrome.Journal of clinical immunology · 2022Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Clinical evidence suggests that patients with Chromosome 22q11.2 deletion (Ch22q11.2D) have an increased prevalence of atopic and autoimmune disease and this has been without explanation. We hypothesized that the increase in atopy was due to homeostatic proliferation of T cells leading to a Th2 skew. We performed intracellular cytokine staining to define Th1/Th2 phenotypes in toddlers (early homeostatic proliferation) and adults (post homeostatic proliferation) with this syndrome. To attempt to understand the predisposition to autoimmunity we performed immunophenotyping analyses to define Th17 cells and B cell subsets. Adult Ch22q11.2D patients had a higher percentage of IL-4+CD4+ T cells than controls. Th17 cells were no different in patients and controls. In addition, adult Ch22q11.2D syndrome patients had significantly lower switched memory B cells, suggesting a dysregulated B cell compartment. These studies demonstrate that the decrement in T cell production has secondary consequences in the immune system, which could mold the patients' clinical picture.
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