Disruption of immunological tolerance: Role of AIRE gene in autoimmunity

Autoimmunity Reviews

Volumn 5, Issue 2 SPEC. ISS., 2006, Pages 145-147

  Rizzi, M ^a,c   Ferrera, F ^a   Filaci, G ^a,b   Indiveri, F ^a,b  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c Center of Excellence for Biomedical Research   (Italy)

Author keywords

AIRE; Autoimmunity

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN;

AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOIMMUNITY; AUTOSOMAL RECESSIVE INHERITANCE; CELL CLONE; CONFERENCE PAPER; DISEASE PREDISPOSITION; EPITHELIUM CELL; GENE MUTATION; HUMAN; IMMUNOLOGICAL TOLERANCE; MISSENSE MUTATION; MONOGENIC DISORDER; PATHOPHYSIOLOGY; PROTEIN EXPRESSION; REGULATORY MECHANISM; T LYMPHOCYTE; THYMUS; TRANSCRIPTION INITIATION;

EID: 31144448140     PISSN: 15689972     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.autrev.2005.09.001     Document Type: Conference Paper

References (12)

1. K. Nagamine, P. Peterson, K.S. Scott, J. Kudoh, S. Minoshima, and M. Heino Positional cloning of the APECED gene Nat Genet 17 4 1997 393 398
2. T.F.-G.A. Consortium An autoimmune disease, APECED, caused by mutations in a nvel gene featuring the PHD-type zinc-finger domains Nat Genet 17 4 1997 399 403
3. D. Uchida, S. Hatakeyama, A. Matsushima, H. Han, S. Ishido, and H. Hotta AIRE functions as an E3 ubiquitin ligase J Exp Med 199 2 2004 167 172
4. K. Kogawa, S. Nagafuchi, H. Katsuta, J. Kudoh, S. Tamiya, and Y. Sakai Expression of AIRE gene in peripheral monocyte/dendritic cell lineage Immunol Lett 80 2002 195 198
5. N. Kuroda, T. Mitani, N. Takeda, N. Ishimaru, R. Arakaki, and Y. Hayashi Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Aire-deficient mice J Immunol 174 4 2005 1862 1870
6. M.S. Anderson, E.S. Venanzi, L. Klein, Z. Chen, S.P. Berzins, and S.J. Turley Projection of an immunological self shadow within the thymus by the AIRE protein Science 298 2002 1395 1401
7. A. Liston, D.H. Gray, S. Lesage, A.L. Fletcher, J. Wilson, and K.E. Webster Gene dosage-limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity J Exp Med 200 8 2004 1015 1026
8. K.F. Tait, and S.C. Gough The genetics of autoimmune endocrine disease Clin Endocrinol (Oxf) 59 1 2003 1 11
9. H.P. Torok, L. Tonenchi, J. Glas, U. Schiemann, and C. Folwaczny No significant association between mutations in exons 6 and 8 of the autoimmune regulator (AIRE) gene and inflammatory bowel disease Eur J Immunogenet 31 2 2004 83 86
10. P. Cavadini, W. Vermi, F. Facchetti, S. Fontana, S. Nagafuchi, and E. Mazzolari AIRE deficiency in thymus of 2 patients with Omenn syndrome J Clin Invest 115 3 2005 728 732
11. R. Tazi-Ahnini, M.J. Cork, D.J. Gawkrodger, M.P. Birch, D. Wengraf, and A.J. McDonagh Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis Tissue Antigens 60 6 2002 489 495
12. M. Fuchtenbusch, A. Vogel, P. Achenbach, M. Gummer, A.G. Ziegler, and E. Albert Lupus-like panniculitis in a patient with autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED) Exp Clin Endocrinol Diabetes 111 5 2003 288 293