Aire-dependent thymic expression of desmoglein 3, the autoantigen in pemphigus vulgaris, and its role in T-Cell tolerance

Journal of Investigative Dermatology

Volumn 131, Issue 2, 2011, Pages 410-417

  Wada, Naoko ^a   Nishifuji, Koji ^a   Yamada, Taketo ^a   Kudoh, Jun ^a,b   Shimizu, Nobuyoshi ^b   Matsumoto, Mitsuru ^c   Peltonen, Leena ^d,e   Nagafuchi, Seiho ^f   Amagai, Masayuki ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KEIO UNIVERSITY   (Japan)

^c UNIVERSITY OF TOKUSHIMA   (Japan)

^d NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^e UNIVERSITY OF HELSINKI   (Finland)

^f KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; DESMOGLEIN 3; DESMOGLEIN 3 ANTIBODY; IMMUNOGLOBULIN G;

ADOPTIVE TRANSFER; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ANTIGEN EXPRESSION; ARTICLE; CD4+ T LYMPHOCYTE; IMMUNOFLUORESCENCE; IMMUNOGLOBULIN PRODUCTION; IMMUNOLOGICAL TOLERANCE; IN SITU HYBRIDIZATION; MOUSE; NONHUMAN; PEMPHIGUS VULGARIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; THYMUS;

EID: 78651386390     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.330     Document Type: Article

References (35)

1. Aaltonen J, Björses P, Perheentupa J et al. (1997) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 17:399-403
2. Aaltonen J, Bjorses P, Sandkuijl L et al. (1994) An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet 8:83-7
3. Ahonen P, Myllarniemi S, Sipila I et al. (1990) Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 322:1829-36
4. Amagai M, Klaus-Kovtun V, Stanley JR (1991) Autoantibodies against a novel epithelial cadherin in pemphigus vulgaris, a disease of cell adhesion. Cell 67:869-77
5. Amagai M, Tsunoda K, Suzuki H et al. (2000) Use of autoantigen-knockout mice in developing an active autoimmune disease model for pemphigus. J Clin Invest 105:625-31
6. Anderson MS, Venanzi ES, Chen Z et al. (2005) The cellular mechanism of Aire control of T cell tolerance. Immunity 23:227-39
7. Anderson MS, Venanzi ES, Klein L et al. (2002) Projection of an immunological self shadow within the thymus by the aire protein. Science 298:1395-401
8. + medullary thymic epithelial cells. Nat Immunol 8:351-8
9. Blau JN, Veall N (1967) The uptake and localization of proteins, Evans blue and carbon black in the normal and pathological thymus of the guinea-pig. Immunology 12:363-72
10. Derbinski J, Schulte A, Kyewski B et al. (2001) Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self. Nat Immunol 2:1032-9
11. Gardner JM, Devoss JJ, Friedman RS et al. (2008) Deletional tolerance mediated by extrathymic Aire-expressing cells. Science 321:843-7
12. Gillard GO, Farr AG (2006) Features of medullary thymic epithelium implicate postnatal development in maintaining epithelial heterogeneity and tissue-restricted antigen expression. J Immunol 176:5815-24
13. Gotter J, Brors B, Hergenhahn M et al. (2004) Medullary epithelial cells of the human thymus express a highly diverse selection of tissue-specific genes colocalized in chromosomal clusters. J Exp Med 199: 155-66
14. Greenwald RJ, Boussiotis VA, Lorsbach RB et al. (2001) CTLA-4 regulates induction of anergy in vivo. Immunity 14:145-55
15. Hanahan D (1998) Peripheral-antigen-expressing cells in thymic medulla: factors in self-tolerance and autoimmunity. Curr Opin Immunol 10:656-62
16. Hubert FX, Kinkel SA, Crewther PE et al. (2009) Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype. J Immunol 182:3902-18
17. Kekalainen E, Tuovinen H, Joensuu J et al. (2007) A defect of regulatory T cells in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Immunol 178:1208-15
18. Klamp T, Sahin U, Kyewski B et al. (2006) Expression profiling of autoimmune regulator AIRE mRNA in a comprehensive set of human normal and neoplastic tissues. Immunol Lett 106:172-9
19. Klug DB, Carter C, Gimenez-Conti IB et al. (2002) Cutting edge: thymocyte-independent and thymocyte-dependent phases of epithelial patterning in the fetal thymus. J Immunol 169:2842-5
20. Kuroda N, Mitani T, Takeda N et al. (2005) Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Aire-deficient mice. J Immunol 174:1862-70
21. Kyewski B, Klein L (2006) A central role for central tolerance. Annu Rev Immunol 24:571-606
22. Liston A, Lesage S, Wilson J et al. (2003) Aire regulates negative selection of organ-specific T cells. Nat Immunol 4:350-4
23. Nagamine K, Peterson P, Scott HS et al. (1997) Positional cloning of the APECED gene. Nat Genet 17:393-8
24. Ramsey C, Winqvist O, Puhakka L et al. (2002) Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum Mol Genet 11:397-409
25. Sakaguchi S, Sakaguchi N, Asano M et al. (1995) Immunologic self-tolerance maintained by activated T cells expressing IL-2 receptor alpha-chains (CD25). Breakdown of a single mechanism of self-tolerance causes various autoimmune diseases. J Immunol 155:1151-64
26. Schafer S, Koch PJ, Franke WW (1994) Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins. Exp Cell Res 211:391-9
27. Senelar R, Escola MJ, Escola R et al. (1976) Relationship between Hassall's corpuscles and thymocytes fate in guinea-pig foetus. Biomedicine 24:112-22
28. Starr TK, Jameson SC, Hogquist KA (2003) Positive and negative selection of T cells. Annu Rev Immunol 21:139-76
29. Tsunoda K, Ota T, Aoki M et al. (2003) Induction of pemphigus phenotype by a mouse monoclonal antibody against the amino-terminal adhesive interface of desmoglein 3. J Immunol 170:2170-8
30. Tsunoda K, Ota T, Suzuki H et al. (2002) Pathogenic autoantibody production requires loss of tolerance against desmoglein 3 in both T and B cells in experimental pemphigus vulgaris. Eur J Immunol 32:627-33
31. Van De Wijngaert FP, Kendall MD, Schuurman HJ et al. (1984) Heterogeneity of epithelial cells in the human thymus. An ultrastructural study. Cell Tissue Res 237:227-37
32. Villasenor J, Besse W, Benoist C et al. (2008) Ectopic expression of peripheral-tissue antigens in the thymic epithelium: probabilistic, monoallelic, misinitiated. Proc Natl Acad Sci USA 105:15854-9
33. + regulatory T cells in human thymus. Nature 436:1181-5
34. Yano M, Kuroda N, Han H et al. (2008) Aire controls the differentiation program of thymic epithelial cells in the medulla for the establishment of self-tolerance. J Exp Med 205:2827-38
35. Yuspa SH, Hawley-Nelson P, Koehler B et al. (1980) A survey of transformation markers in differentiating epidermal cell lines in culture. Cancer Res 40:4694-703