autoimmune regulator
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L AIRE gene provides instructions for making a protein called the autoimmune regulator. This protein is active primarily in the thymus, which is an organ located behind the breastbone that plays an important role in immune system function. The thymus prepares immune cells called T cells for their role in fighting infection; this process is called thymic education.
Normal function
L AIRE gene provides instructions for making a protein called the autoimmune regulator. This protein is active primarily in the thymus, which is an organ located behind the breastbone that plays an important role in immune system function. The thymus prepares immune cells called T cells for their role in fighting infection; this process is called thymic education.
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, fungi, 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 malfunctions, the immune system's ability to distinguish between the body's proteins and foreign invaders is impaired, and it may attack the body's own tissues and organs. This abnormal reaction is called autoimmunity. In the thymus, the autoimmune regulator protein destroys T cells that otherwise would cause autoimmune damage.
Conditions referring to this gene or chromosome
Altri nomi
AIRE1
AIRE_HUMAN
APECED
APS1
APSI
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein
PGA1
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Ulteriori letture e riferimenti
- autoimmune regulator; MedlinePlus, National Library of Medicine.
- Anderson MS, Su MA. AIRE expands: new roles in immune tolerance and beyond. Nat Rev Immunol. 2016 Apr;16(4):247-58. doi: 10.1038/nri.2016.9. Epub 2016 Mar 14.
- De Martino L, Capalbo D, Improda N, D'Elia F, Di Mase R, D'Assante R, D'Acunzo I, Pignata C, Salerno M. APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors. Front Immunol. 2013 Oct 23;4:331. doi: 10.3389/fimmu.2013.00331.
- De Martino L, Capalbo D, Improda N, Lorello P, Ungaro C, Di Mase R, Cirillo E, Pignata C, Salerno M. Novel Findings into AIRE Genetics and Functioning: Clinical Implications. Front Pediatr. 2016 Aug 22;4:86. doi: 10.3389/fped.2016.00086. eCollection 2016.
- Ferre EM, Rose SR, Rosenzweig SD, Burbelo PD, Romito KR, Niemela JE, Rosen LB, Break TJ, Gu W, Hunsberger S, Browne SK, Hsu AP, Rampertaap S, Swamydas M, Collar AL, Kong HH, Lee CR, Chascsa D, Simcox T, Pham A, Bondici A, Natarajan M, Monsale J, Kleiner DE, Quezado M, Alevizos I, Moutsopoulos NM, Yockey L, Frein C, Soldatos A, Calvo KR, Adjemian J, Similuk MN, Lang DM, Stone KD, Uzel G, Kopp JB, Bishop RJ, Holland SM, Olivier KN, Fleisher TA, Heller T, Winer KK, Lionakis MS. Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. JCI Insight. 2016 Aug 18;1(13):e88782. doi: 10.1172/jci.insight.88782.
- Gallo V, Giardino G, Capalbo D, Palamaro L, Romano R, Santamaria F, Maio F, Salerno M, Vajro P, Pignata C. Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model. Expert Rev Clin Immunol. 2013 Jan;9(1):43-51. doi: 10.1586/eci.12.88.
- Kisand K, Boe Wolff AS, Podkrajsek KT, Tserel L, Link M, Kisand KV, Ersvaer E, Perheentupa J, Erichsen MM, Bratanic N, Meloni A, Cetani F, Perniola R, Ergun-Longmire B, Maclaren N, Krohn KJ, Pura M, Schalke B, Strobel P, Leite MI, Battelino T, Husebye ES, Peterson P, Willcox N, Meager A. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med. 2010 Feb 15;207(2):299-308. doi: 10.1084/jem.20091669. Epub 2010 Feb 1.
- Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. J Clin Immunol. 2015 Jul;35(5):463-78. doi: 10.1007/s10875-015-0176-y. Epub 2015 Jul 5.
- Laan M, Peterson P. The many faces of aire in central tolerance. Front Immunol. 2013 Oct 11;4:326. doi: 10.3389/fimmu.2013.00326.
- Puel A, Doffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, Cobat A, Ouachee-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Al-Owain M, Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougneres PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010 Feb 15;207(2):291-7. doi: 10.1084/jem.20091983. Epub 2010 Feb 1.
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