Navigation Links
Autoimmune regulator


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]

References

  1. ^ OMIM. [1]
  2. ^ 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.
  3. ^ Anderson, M.S. et al. (2002) Projection of an Immunological Self-Shadow Within the Thymus by the Aire Protein. Science 298 (5597), 1395-1401
  4. ^ Liston, A. et al. (2003) Aire regulates negative selection of organ-specific T cells. Nat Immunol 4 (4), 350-354

External links


'"/>


(Date:8/18/2017)... ... August 18, 2017 , ... Mediaplanet today ... for active, healthy lifestyles and highlighting the importance of proactive eye and ear ... and shares the latest innovations in hearing aid technology. , In this ...
(Date:8/18/2017)... ... August 18, 2017 , ... Radabaugh & ... assistance to communities in North-Central West Virginia, is embarking on a cooperative charity ... in the area. , The Chestnut Mountain Ranch (CMR) is a Christ-centered boarding ...
(Date:8/18/2017)... Humble, TX (PRWEB) , ... August 18, 2017 ... ... insurance management and financial planning firm that serves residential and commercial clients in ... a charity drive to raise community support for the fight against cancer. , ...
(Date:8/18/2017)... ... ... Yisrayl Hawkins, Pastor and Overseer at The House of Yahweh in Abilene, Texas, has released ... pertaining to the mother of the Savior whom the world calls “Mother Mary”. Yisrayl says ... the role of this historical woman. , “The world bows, kisses the feet of, ...
(Date:8/18/2017)... ... , ... “Our Mountains to Climb: A Journey of Love and Faith Through ... through the faith they shared to overcome struggles in life. “Our Mountains to Climb: ... Barbara J. Corcoran, a retired teacher and happily married since 1999; the author’s personal ...
Breaking Medicine News(10 mins):
Other medicine definition