ReviewFrontiers in immunology2020
Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models.
Review in Frontiers in immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Rebooting immunity in congenital athymia: Factors impacting reconstitution with thymus implantation.Journal of human immunity · 2026Article
- The systemic effects of 22q11.2 deletion syndrome on immunity.Journal of human immunity · 2026Review
- Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9Journal of human immunity · 2025Article
- It's Time to Unite: Diversity and Coordination of Thymic Stromal Cells for T Cell Selection and Organ Integrity.Immunological reviews · 2025Review
- Thymus Ontogeny and Development.Advances in experimental medicine and biology · 2025Review
- The Proteostasis of Thymic Stromal Cells in Health and Diseases.The protein journal · 2024Review
- Primary and secondary defects of the thymus.Immunological reviews · 2024Review
- Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease.Journal of clinical immunology · 2024Article
- Case report: Artificial thymic organoids facilitate clinical decisions for a patient with aFrontiers in immunology · 2024Article
- Comprehensive phenotypic analysis of diverse FOXN1 variants.The Journal of allergy and clinical immunology · 2023Article
- HOXA3 functions as the on-off switch to regulate the development of hESC-derived third pharyngeal pouch endoderm through EPHB2-mediated Wnt pathway.Frontiers in immunology · 2023Article
- Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome.The Journal of clinical investigation · 2022Article
- Mesenchymal stromal cells in the thymus.Inflammation and regeneration · 2022Review
- Inborn errors of immunity associated with defects of thymic development.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2022Review
- Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion.Journal of clinical medicine · 2022Article
- Thymus Functionality Needs More Than a Few TECs.Frontiers in immunology · 2022Review
- The Role of Zinc in the T-Cell Metabolism in Infection Requires Further Investigation - An Opinion.Frontiers in immunology · 2022Article
- Embryology, Malformations, and Rare Diseases of the Cochlea.Laryngo- rhino- otologie · 2021Article
- Inborn errors of thymic stromal cell development and function.Seminars in immunopathology · 2021Review
- Non-Epithelial Thymic Stromal Cells: Unsung Heroes in Thymus Organogenesis and T Cell Development.Frontiers in immunology · 2020Review
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
22q11.2 deletion syndrome (DiGeorge), CHARGE syndrome, Nude/SCID and otofaciocervical syndrome type 2 (OTFCS2) are distinct clinical conditions in humans that can result in hypoplasia and occasionally, aplasia of the thymus. Thymic hypoplasia/aplasia is first suggested by absence or significantly reduced numbers of recent thymic emigrants, revealed in standard-of-care newborn screens for T cell receptor excision circles (TRECs). Subsequent clinical assessments will often indicate whether genetic mutations are causal to the low T cell output from the thymus. However, the molecular mechanisms leading to the thymic hypoplasia/aplasia in diverse human syndromes are not fully understood, partly because the problems of the thymus originate during embryogenesis. Rodent and Zebrafish models of these clinical syndromes have been used to better define the underlying basis of the clinical presentations. Results from these animal models are uncovering contributions of different cell types in the specification, differentiation, and expansion of the thymus. Cell populations such as epithelial cells, mesenchymal cells, endothelial cells, and thymocytes are variably affected depending on the human syndrome responsible for the thymic hypoplasia. In the current review, findings from the diverse animal models will be described in relation to the clinical phenotypes. Importantly, these results are suggesting new strategies for regenerating thymic tissue in patients with distinct congenital disorders.
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