Autoimmune regulator
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| Autoimmune Regulator
| |
| Identifiers | |
| Symbol | AIRE |
| Alt. Symbols | AIRE1, APECED, APS1, APSI, PGA1 |
| Entrez | 326 |
| HUGO | 360 |
| OMIM | *607358 |
| RefSeq | NM_000383.1 |
| UniProt | CAA08759 |
| Other data | |
| Locus | Chr. 21 q22.3 |
The Autoimmune Regulator, abbreviated AIRE, is a human gene which is expressed in the thymus. It causes transcription of a wide selection of organ-specific genes. This reduces the threat of autoimmunity occurring by allowing the elimination of autoreactive T cells by the process of negative selection if they are too reactive to self.
It is mutated in the rare autoimmune syndrome Autoimmune Polyendocrinopathy Syndrome type 1 (APS-1), also known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED). Disruption of AIRE results in the development of a range of autoimmune diseases, the most common clinical conditions in the syndrome are hypoparathyroidism, primary adrenocortical failure and chronic mucocutaneous candidiasis.[1] AIRE is expressed primarily in the thymus.
A gene knockout of the murine homolog Aire has created a transgenic mouse model to study the mechanism of disease in human patients.[2] Research on the knockout mouse has demonstrated that Aire functions through initiating the transcription of a diverse set of self-antigens, such as insulin, in the thymus.[3] This expression then allows maturing thymocytes to become tolerant towards peripheral organs, thereby suppressing autoimmune disease.[4]
See also
- List of human clusters of differentiation for a list of CD molecules
- Immune system
- Immune tolerance
References
- ↑ OMIM. [1]
- ↑ Ramsey, C. et al. (2002) Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum Mol Genet 11 (4), 397-409.
- ↑ Anderson, M.S. et al. (2002) Projection of an Immunological Self-Shadow Within the Thymus by the Aire Protein. Science 298 (5597), 1395-1401
- ↑ Liston, A. et al. (2003) Aire regulates negative selection of organ-specific T cells. Nat Immunol 4 (4), 350-354
External links
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
