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Inborn errors of thymic stromal cell development and function.
| Content Provider | Europe PMC |
|---|---|
| Author | Kreins, Alexandra Y. Maio, Stefano Dhalla, Fatima |
| Abstract | As the primary site for T cell development, the thymus is responsible for the production and selection of a functional, yet self-tolerant T cell repertoire. This critically depends on thymic stromal cells, derived from the pharyngeal apparatus during embryogenesis. Thymic epithelial cells, mesenchymal and vascular elements together form the unique and highly specialised microenvironment required to support all aspects of thymopoiesis and T cell central tolerance induction. Although rare, inborn errors of thymic stromal cells constitute a clinically important group of conditions because their immunological consequences, which include autoimmune disease and T cell immunodeficiency, can be life-threatening if unrecognised and untreated. In this review, we describe the molecular and environmental aetiologies of the thymic stromal cell defects known to cause disease in humans, placing particular emphasis on those with a propensity to cause thymic hypoplasia or aplasia and consequently severe congenital immunodeficiency. We discuss the principles underpinning their diagnosis and management, including the use of novel tools to aid in their identification and strategies for curative treatment, principally transplantation of allogeneic thymus tissue. |
| Related Links | https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC7925491&blobtype=pdf |
| ISSN | 18632297 |
| Journal | Seminars in Immunopathology [Semin Immunopathol] |
| Volume Number | 43 |
| DOI | 10.1007/s00281-020-00826-9 |
| PubMed Central reference number | PMC7925491 |
| Issue Number | 1 |
| PubMed reference number | 33257998 |
| e-ISSN | 18632300 |
| Language | English |
| Publisher | Springer Berlin Heidelberg |
| Publisher Date | 2020-11-30 |
| Publisher Place | Berlin/Heidelberg |
| Access Restriction | Open |
| Rights License | Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2020 |
| Subject Keyword | Thymus Thymic stromal cells Immunodeficiency DiGeorge syndrome FOXN1 Thymus transplantation |
| Content Type | Text |
| Resource Type | Article |
| Subject | Immunology and Allergy Immunology |
