{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T12:30:33Z","timestamp":1790512233372,"version":"4.1.0"},"reference-count":154,"publisher":"The Company of Biologists","issue":"2","license":[{"start":{"date-parts":[[2021,3,23]],"date-time":"2021-03-23T00:00:00Z","timestamp":1616457600000},"content-version":"vor","delay-in-days":50,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004100","name":"Labex","doi-asserted-by":"crossref","award":["ANR-11-LABX-0016-01"],"award-info":[{"award-number":["ANR-11-LABX-0016-01"]}],"id":[{"id":"10.13039\/501100004100","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"crossref","award":["ANR-19-RAR4-0011-5"],"award-info":[{"award-number":["ANR-19-RAR4-0011-5"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"crossref","award":["ANR-19-RAR4-0011-4"],"award-info":[{"award-number":["ANR-19-RAR4-0011-4"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,2,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare life-threatening autoimmune disease that attacks multiple organs and has its onset in childhood. It is an inherited condition caused by a variety of mutations in the autoimmune regulator (AIRE) gene that encodes a protein whose function has been uncovered by the generation and study of Aire-KO mice. These provided invaluable insights into the link between AIRE expression in medullary thymic epithelial cells (mTECs), and the broad spectrum of self-antigens that these cells express and present to the developing thymocytes. However, these murine models poorly recapitulate all phenotypic aspects of human APECED. Unlike Aire-KO mice, the recently generated Aire-KO rat model presents visual features, organ lymphocytic infiltrations and production of autoantibodies that resemble those observed in APECED patients, making the rat model a main research asset. In addition, ex vivo models of AIRE-dependent self-antigen expression in primary mTECs have been successfully set up. Thymus organoids based on pluripotent stem cell-derived TECs from APECED patients are also emerging, and constitute a promising tool to engineer AIRE-corrected mTECs and restore the generation of regulatory T cells. Eventually, these new models will undoubtedly lead to main advances in the identification and assessment of specific and efficient new therapeutic strategies aiming to restore immunological tolerance in APECED patients.<\/jats:p>","DOI":"10.1242\/dmm.046359","type":"journal-article","created":{"date-parts":[[2021,2,6]],"date-time":"2021-02-06T07:25:43Z","timestamp":1612596343000},"source":"Crossref","is-referenced-by-count":35,"title":["AIRE deficiency, from preclinical models to human APECED disease"],"prefix":"10.1242","volume":"14","author":[{"given":"Marine","family":"Besnard","sequence":"first","affiliation":[{"name":"Universit\u00e9 de Nantes, Inserm, CNRS, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, F-44000 Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francine","family":"Padonou","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Nantes, Inserm, CNRS, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, F-44000 Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan","family":"Provin","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Nantes, Inserm, CNRS, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, F-44000 Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Giraud","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Nantes, Inserm, CNRS, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, F-44000 Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7195-0631","authenticated-orcid":false,"given":"Carole","family":"Guillonneau","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Nantes, Inserm, CNRS, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, F-44000 Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2021,2,5]]},"reference":[{"key":"2021042701072468400_DMM046359C1","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1016\/j.cell.2009.12.030","article-title":"Aire's partners in the molecular control of immunological tolerance","volume":"140","author":"Abramson","year":"2010","journal-title":"Cell"},{"key":"2021042701072468400_DMM046359C2","doi-asserted-by":"publisher","first-page":"1829","DOI":"10.1056\/NEJM199006283222601","article-title":"Clinical variation of autoimmune polyendocrinopathy\u2013candidiasis\u2013ectodermal dystrophy (APECED) in a series of 68 patients","volume":"322","author":"Ahonen","year":"1990","journal-title":"N. 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