AIRE Protein

A transcriptional regulator primarily expressed in medullary thymic epithelial cells. It plays an important role in immunity by regulating the expression of a wide array of SELF-ANTIGENS and negative selection of autoreactive T-cells in the thymus. Deficiency in this protein induces a rare autosomal-recessive disease called AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY.

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Networked: 30 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Peterson, Pärt: 3 articles (06/2011 - 11/2008)
2.	Musco, Giovanna: 3 articles (05/2009 - 03/2005)
3.	Fierabracci, Alessandra: 2 articles (01/2021 - 01/2011)
4.	Fukui, Yoshinori: 2 articles (01/2017 - 01/2017)
5.	Tomino, Takahiro: 2 articles (01/2017 - 01/2017)
6.	Uruno, Takehito: 2 articles (01/2017 - 01/2017)
7.	Yanagihara, Toyoshi: 2 articles (01/2017 - 01/2017)
8.	Falorni, Alberto: 1 article (01/2021)
9.	Perniola, Roberto: 1 article (01/2021)
10.	Constantine, Gregory M: 1 article (01/2019)

Related Diseases

1.	Autoimmune Polyendocrinopathies (Schmidt Syndrome) 01/01/2017 - "Whole exome sequencing followed by Sanger sequencing revealed that all three affected subjects were compound heterozygous for two previously reported mutations, c.967_979delCTGTCCCCTCCGC:p.(L323SfsX51) and c.995+(3_5)delGAGinsTAT, in AIRE, which encodes the autoimmune regulator protein that is defective in autoimmune polyglandular syndrome type 1 (APS-1). " 03/01/2005 - "We report two novel mutations, c.230T>C (p.F77S) and c.64_69del (p.V22_D23del) within the HSR domain of the AIRE protein in two patients of Italian descent affected by APECED. " 08/01/2000 - "The results imply that the C-terminus of AIRE protein including the third LXXLL motif plays a critical role in the development of APECED, and that the phenotypic spectrum can vary between siblings with the same mutations." 02/01/1999 - "The AIRE protein was also visualized in multiple human tissues: a subset of the cells in thymus, in spleen and in lymph node showed nuclear staining with APECED antiserum. " 01/01/1998 - "In the future, functional analysis of the AIRE protein both in vitro and in vivo will provide valuable insight not only into the molecular pathogenesis of APECED but also into the aetiology of autoimmunity in general."
2.	Candidiasis (Moniliasis) 12/01/2004 - "To review the clinical and molecular features of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy and discuss recent advances in the function of the AIRE protein. " 06/01/2011 - "Much has been learnt about the mechanisms of thymic self-tolerance induction from work on both the rare autosomal recessive disease autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) and the autoimmune regulator (AIRE) protein mutated in this disease. " 05/01/2009 - "Mutations in the autoimmune regulator (AIRE) protein, which harbours two PHD fingers, cause a rare monogenic disease, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). " 11/01/2008 - "Autoimmune regulator (AIRE) protein contains two PHD fingers and mutations in AIRE gene cause the monogenic disease autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). " 04/01/2005 - "Mutations in the autoimmune regulator (AIRE) protein are the causative factor in development of the human disease autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). "
3.	Autoimmune Diseases (Autoimmune Disease) 01/01/2019 - "The discovery of the autoimmune regulator (AIRE) protein and the delineation of its critical contributions in the establishment of central immune tolerance has significantly expanded our understanding of the immunological mechanisms that protect from the development of autoimmune disease. " 01/01/2011 - "In this review recent discoveries are presented into the role and molecular mechanisms of the AIRE protein in APECED and other autoimmune diseases." 06/01/2011 - "Much has been learnt about the mechanisms of thymic self-tolerance induction from work on both the rare autosomal recessive disease autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) and the autoimmune regulator (AIRE) protein mutated in this disease. " 05/01/2009 - "Mutations in the autoimmune regulator (AIRE) protein, which harbours two PHD fingers, cause a rare monogenic disease, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). " 11/01/2008 - "Autoimmune regulator (AIRE) protein contains two PHD fingers and mutations in AIRE gene cause the monogenic disease autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). "
4.	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 01/01/2017 - "Corrigendum to "Thymic epithelial cell-specific deletion of Jmjd6 reduces aire protein expression and exacerbates disease development in a mouse model of autoimmune diabetes" [Biochemical and Biophysical Research Communications 489/1 (2017) 8-13]." 01/01/2017 - "Thymic epithelial cell-specific deletion of Jmjd6 reduces Aire protein expression and exacerbates disease development in a mouse model of autoimmune diabetes." 05/01/2001 - "Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with AIH type 1 carried a R257X mutation, and a patient with AIH type 2, diabetes mellitus type 1 (IDDM), thyroid disease, and atrophic gastritis carried a G305S mutation in the first PHD ring finger domain of the AIRE protein. "
5.	Neoplasms (Cancer) 08/01/2015 - "Further, K17 colocalizes with Aire protein in the nucleus of tumor-prone keratinocytes, and each factor is bound to a specific promoter region featuring an NF-κB consensus sequence in a relevant subset of K17- and Aire-dependent proinflammatory genes. " 08/01/2009 - "Of particular interest, the protein autoimmune regulator was expressed 14-fold higher in tumor tissue, suggesting it may have a role in HCC. "

Related Drugs and Biologics

1.	Proteins (Proteins, Gene)
2.	Transcription Factors (Transcription Factor)
3.	Antigens
4.	Cholinergic Receptors
5.	Tissue Plasminogen Activator (Alteplase)
6.	Chromatin
7.	Autoantibodies