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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Bibliographic Details
Published in:Clinical & developmental immunology 2012-01, Vol.2012 (2012), p.1-12
Main Author: Perniola, Roberto
Format: Article
Language:English
Subjects:
AIRE Protein
Animals
Antigen presentation
Antigens - immunology
Apoptosis
Autoimmune diseases
Epithelial cells
Humans
Immunological tolerance
Immunology
Kinases
Lymphocytes
Peripheral Tolerance - genetics
Peripheral Tolerance - immunology
Polyendocrinopathies, Autoimmune - genetics
Polyendocrinopathies, Autoimmune - immunology
Polyendocrinopathies, Autoimmune - metabolism
Proteins
Review
Thymocytes
Thymus
Transcription
Transcription Factors - genetics
Transcription Factors - immunology
Transcription Factors - metabolism
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Summary: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.
ISSN:1740-2522
2314-8861
1740-2530
2314-7156
DOI:10.1155/2012/207403