ReviewAmerican journal of medical genetics. Part A2018
Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.
Review in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 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
32 citing papers in PubMed, 56 citations in OpenAlex.
- Vitamin D status and the immune assessment in 22q11.2 deletion syndrome.Clinical and experimental immunology · 2020Trial
- Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.Frontiers in immunology · 2019Trial
- Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma.European thyroid journal · 2025Article
- Primary and secondary defects of the thymus.Immunological reviews · 2024Review
- 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
- Systemic lupus erythematosus in a patient with 22q11.2 deletion syndrome: A case report and review of the literature.Central-European journal of immunology · 2024Article
- Shared Genetic Loci Between Schizophrenia and White Blood Cell Counts Suggest Genetically Determined Systemic Immune Abnormalities.Schizophrenia bulletin · 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
- Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.Journal of clinical immunology · 2023Article
- 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
- Congenital Athymia: Unmet Needs and Practical Guidance.Therapeutics and clinical risk management · 2023Review
- Dendritic cells in inborn errors of immunity.Frontiers in immunology · 2023Review
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- Article
- Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.The Journal of allergy and 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
- Article
- Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.International journal of molecular sciences · 2021Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. A hypoplastic thymus was one of the first features described in this syndrome and low T cell counts, as a consequence of thymic hypoplasia, are the most commonly described immunologic feature. These are most prominently seen in early childhood and can be associated with increased persistence of viruses. Later in life, evidence of T cell exhaustion may be seen and secondary deficiencies of antibody function have been described. The relationship of the immunodeficiency to the deletion breakpoints has been understudied due to the infrequent analysis of people carrying smaller deletions. This manuscript will review the immune deficiency in 22q11.2 deletion syndrome and describe differences in the T cell counts related to the deletion breakpoints. Distal, non-TBX1 inclusive deletions, were found to be associated with better T cell counts. Another new finding is the relative preservation of T cell counts in those patients with a 22q11.2 duplication.
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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.