Expression of the Autoimmune Regulator Gene and Its Relevance to the Mechanisms of Central and Peripheral Tolerance
The autoimmune polyendocrine syndrome type 1 (APS-1) is a monogenic disease due to pathogenic variants occurring in the autoimmune regulator (AIRE) gene. Its related protein, AIRE, activates the transcription of genes encoding for tissue-specific antigens (TsAgs) in a subset of medullary thymic epit...
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Wiley
2012-01-01
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| Series: | Clinical and Developmental Immunology |
| Online Access: | http://dx.doi.org/10.1155/2012/207403 |
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| author | Roberto Perniola |
| author_facet | Roberto Perniola |
| author_sort | Roberto Perniola |
| collection | DOAJ |
| description | The autoimmune polyendocrine syndrome type 1 (APS-1) is a monogenic disease due to pathogenic variants occurring in the autoimmune regulator (AIRE) gene. Its related protein, AIRE, activates the transcription of genes encoding for tissue-specific antigens (TsAgs) in a subset of medullary thymic epithelial cells: the presentation of TsAgs to the maturating thymocytes induces the apoptosis of the autoreactive clones and constitutes the main form of central tolerance. Dysregulation of thymic AIRE expression in genetically transmitted and acquired diseases other than APS-1 may contribute to further forms of autoimmunity. As AIRE and its murine homolog are also expressed in the secondary lymphoid organs, the extent and relevance of AIRE participation in the mechanisms of peripheral tolerance need to be thoroughly defined. |
| format | Article |
| id | doaj-art-197f150e5e3248e1b858b0881864f61e |
| institution | Kabale University |
| issn | 1740-2522 1740-2530 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical and Developmental Immunology |
| spelling | doaj-art-197f150e5e3248e1b858b0881864f61e2025-02-03T01:21:44ZengWileyClinical and Developmental Immunology1740-25221740-25302012-01-01201210.1155/2012/207403207403Expression of the Autoimmune Regulator Gene and Its Relevance to the Mechanisms of Central and Peripheral ToleranceRoberto Perniola0Neonatal Intensive Care, Department of Pediatrics, V. Fazzi Regional Hospital, Piazza F. Muratore, 73100 Lecce, ItalyThe autoimmune polyendocrine syndrome type 1 (APS-1) is a monogenic disease due to pathogenic variants occurring in the autoimmune regulator (AIRE) gene. Its related protein, AIRE, activates the transcription of genes encoding for tissue-specific antigens (TsAgs) in a subset of medullary thymic epithelial cells: the presentation of TsAgs to the maturating thymocytes induces the apoptosis of the autoreactive clones and constitutes the main form of central tolerance. Dysregulation of thymic AIRE expression in genetically transmitted and acquired diseases other than APS-1 may contribute to further forms of autoimmunity. As AIRE and its murine homolog are also expressed in the secondary lymphoid organs, the extent and relevance of AIRE participation in the mechanisms of peripheral tolerance need to be thoroughly defined.http://dx.doi.org/10.1155/2012/207403 |
| spellingShingle | Roberto Perniola Expression of the Autoimmune Regulator Gene and Its Relevance to the Mechanisms of Central and Peripheral Tolerance Clinical and Developmental Immunology |
| title | Expression of the Autoimmune Regulator Gene and Its Relevance to the Mechanisms of Central and Peripheral Tolerance |
| title_full | Expression of the Autoimmune Regulator Gene and Its Relevance to the Mechanisms of Central and Peripheral Tolerance |
| title_fullStr | Expression of the Autoimmune Regulator Gene and Its Relevance to the Mechanisms of Central and Peripheral Tolerance |
| title_full_unstemmed | Expression of the Autoimmune Regulator Gene and Its Relevance to the Mechanisms of Central and Peripheral Tolerance |
| title_short | Expression of the Autoimmune Regulator Gene and Its Relevance to the Mechanisms of Central and Peripheral Tolerance |
| title_sort | expression of the autoimmune regulator gene and its relevance to the mechanisms of central and peripheral tolerance |
| url | http://dx.doi.org/10.1155/2012/207403 |
| work_keys_str_mv | AT robertoperniola expressionoftheautoimmuneregulatorgeneanditsrelevancetothemechanismsofcentralandperipheraltolerance |