ArticleClinical immunology (Orlando, Fla.)2016
B cell development in chromosome 22q11.2 deletion syndrome.
Article in Clinical immunology (Orlando, Fla.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 36 citations in OpenAlex.
- Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndrome.Journal of human immunity · 2026Article
- 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
- Refractory immune cytopenia successfully treated with mycophenolate mofetil in four adolescents with del22q11.2 syndrome.Frontiers in immunology · 2026Article
- 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
- Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.Journal of clinical immunology · 2025Article
- Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype.Journal of clinical medicine · 2023Article
- 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
- Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs.Journal of clinical immunology · 2022Article
- Transcriptomic profiling of whole blood in 22q11.2 reciprocal copy number variants reveals that cell proportion highly impacts gene expression.Brain, behavior, & immunity - health · 2021Article
- Chromatin Modifications in 22q11.2 Deletion Syndrome.Journal of clinical immunology · 2021Article
- Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiency.BMJ case reports · 2020Article
- Cosmc is required for T cell persistence in the periphery.Glycobiology · 2019Article
- Characteristics and Outcomes of Heart Transplantation in DiGeorge Syndrome.Pediatric cardiology · 2019Article
- Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).Current allergy and asthma reports · 2018Review
- Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- B-cell receptor repertoire sequencing in patients with primary immunodeficiency: a review.Immunology · 2018Review
- Follicular Helper T Cells in DiGeorge Syndrome.Frontiers in immunology · 2018Article
- Primary/Congenital Immunodeficiency: 2015 SH/EAHP Workshop Report-Part 5.American journal of clinical pathology · 2017Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Chromosome 22q11.2 deletion syndrome is a common immune deficiency associated with thymic hypoplasia. Most patients did not survive until the mid-1980s and now there is a growing adult population. B cell and immunoglobulin defects have been described and appear to be increased in the adult population. We used flow cytometry, B cell stimulation and repertoire analysis to understand B cell function. B cell production at early stages appeared to be normal in patients but adult patients exhibited a deficit of switched memory B cells. Follicular helper T cells were present at higher percentages in patients and they exhibited a more activated phenotype in patients compared to controls. In spite of that, somatic hypermutation was decreased in patients compared to controls at all ages. Fewer mutations per clone were seen, strongly implicating aberrant T cell help. Therefore, patients with chromosome 22q11.2 deletion syndrome have a progressive decrease in switched memory B cells and evidence of compromised T cell help. In children, evidence of compromised T cell help is limited to decreased somatic hypermutation. With age, greater manifestations become apparent even though a minority of patients have hypogammaglobulinemia. As this population ages, this has important implications for management.
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Registered trials
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