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Genetics Home Reference: your guide to understanding genetic conditions
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AIRE

Reviewed August 2007

What is the official name of the AIRE gene?

The official name of this gene is “autoimmune regulator.”

AIRE is the gene's official symbol. The AIRE gene is also known by other names, listed below.

What is the normal function of the AIRE gene?

The AIRE gene provides instructions for making a protein called the autoimmune regulator. This protein is active primarily in the thymus, which is a gland located behind the breastbone that plays an important role in immune system function. Specifically, the thymus produces infection-fighting cells called T cells.

For a person to remain healthy, immune system cells such as T cells must be able to identify and destroy potentially harmful invaders (such as bacteria and viruses) while sparing the body's normal tissues. The autoimmune regulator protein plays an important role in this process by helping T cells distinguish the body's own proteins from those of foreign invaders. When this system is working properly, it prevents the immune system from turning against itself and attacking healthy tissues by mistake. This abnormal reaction is called autoimmunity. In the thymus, the autoimmune regulator protein helps control the activity of certain genes that protect against autoimmunity.

Researchers continue to study the autoimmune regulator protein to clarify its role in autoimmunity and to determine whether it has additional functions.

Does the AIRE gene share characteristics with other genes?

The AIRE gene belongs to a family of genes called PHF (PHD-type zinc fingers).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the AIRE gene related to health conditions?

autoimmune polyglandular syndrome, type 1 - caused by mutations in the AIRE gene

More than 60 mutations in the AIRE gene have been identified in people with autoimmune polyglandular syndrome, type 1. Some of these genetic changes lead to the production of an abnormally short, nonfunctional version of the autoimmune regulator protein. Other mutations change single protein building blocks (amino acids) in critical regions of the protein.

AIRE mutations reduce or eliminate the function of the autoimmune regulator protein. Without enough of this protein, the immune system can malfunction, resulting in autoimmunity. This abnormal reaction leads to inflammation and can damage otherwise healthy cells and tissues. For reasons that are unclear, defects in the autoimmune regulator protein primarily affect hormone-producing (endocrine) glands. Damage to endocrine glands, including the adrenals, parathyroids, and thyroid, underlies many of the major features of autoimmune polyglandular syndrome, type 1.

Where is the AIRE gene located?

Cytogenetic Location: 21q22.3

Molecular Location on chromosome 21: base pairs 44,285,837 to 44,298,218

The AIRE gene is located on the long (q) arm of chromosome 21 at position 22.3.

The AIRE gene is located on the long (q) arm of chromosome 21 at position 22.3.

More precisely, the AIRE gene is located from base pair 44,285,837 to base pair 44,298,218 on chromosome 21.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about AIRE?

You and your healthcare professional may find the following resources about AIRE helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the AIRE gene or gene products?

  • AIRE1
  • AIRE_HUMAN
  • APECED
  • APS1
  • APSI
  • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein
  • PGA1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding AIRE?

acids ; adaptive immunity ; autoimmune ; autoimmune disease ; autoimmunity ; bacteria ; candidiasis ; epithelial ; gene ; hormone ; immune system ; infection ; inflammation ; protein ; syndrome ; thymus ; thyroid ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Cheng MH, Shum AK, Anderson MS. What's new in the Aire? Trends Immunol. 2007 Jul;28(7):321-7. Epub 2007 Jun 7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17556019?dopt=Abstract)
  • DeVoss JJ, Anderson MS. Lessons on immune tolerance from the monogenic disease APS1. Curr Opin Genet Dev. 2007 Jun;17(3):193-200. Epub 2007 Apr 26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17466510?dopt=Abstract)
  • Gavanescu I, Kessler B, Ploegh H, Benoist C, Mathis D. Loss of Aire-dependent thymic expression of a peripheral tissue antigen renders it a target of autoimmunity. Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4583-7. Epub 2007 Mar 6. (http://www.ncbi.nlm.nih.gov/pubmed/17360567?dopt=Abstract)
  • Mathis D, Benoist C. A decade of AIRE. Nat Rev Immunol. 2007 Aug;7(8):645-50. Epub 2007 Jul 20. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17641664?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/326)
  • Peterson P, Peltonen L. Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity. J Autoimmun. 2005;25 Suppl:49-55. Epub 2005 Nov 14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16290093?dopt=Abstract)
  • Rizzi M, Ferrera F, Filaci G, Indiveri F. Disruption of immunological tolerance: role of AIRE gene in autoimmunity. Autoimmun Rev. 2006 Feb;5(2):145-7. Epub 2005 Sep 13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16431348?dopt=Abstract)
  • Ruan QG, She JX. Autoimmune polyglandular syndrome type 1 and the autoimmune regulator. Clin Lab Med. 2004 Mar;24(1):305-17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15157567?dopt=Abstract)
  • Ruan QG, Tung K, Eisenman D, Setiady Y, Eckenrode S, Yi B, Purohit S, Zheng WP, Zhang Y, Peltonen L, She JX. The autoimmune regulator directly controls the expression of genes critical for thymic epithelial function. J Immunol. 2007 Jun 1;178(11):7173-80. (http://www.ncbi.nlm.nih.gov/pubmed/17513766?dopt=Abstract)
  • Villaseñor J, Benoist C, Mathis D. AIRE and APECED: molecular insights into an autoimmune disease. Immunol Rev. 2005 Apr;204:156-64. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15790357?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2007
Published: December 22, 2014