메뉴 건너뛰기




Volumn 10, Issue 8, 2009, Pages 667-672

The PTPN22 gain-of-function 1858T() genotypes correlate with low IL-2 expression in thymomas and predispose to myasthenia gravis

Author keywords

CTLA 4; Myasthenia; Negative selection; PTPN22; Thymoma

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; INTERLEUKIN 2; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; T LYMPHOCYTE RECEPTOR; CYTOTOXIC T-LYMPHOCYTE ANTIGEN 4; LEUKOCYTE ANTIGEN; PTPN22 PROTEIN, HUMAN;

EID: 73849107060     PISSN: 14664879     EISSN: 14765470     Source Type: Journal    
DOI: 10.1038/gene.2009.64     Document Type: Article
Times cited : (36)

References (28)
  • 1
    • 0141615844 scopus 로고    scopus 로고
    • The role of thymomas in the development of myasthenia gravis
    • Marx A, Müller-Hermelink HK, Ströbel P. The role of thymomas in the development of myasthenia gravis. Ann N Y Acad Sci 2003; 998: 223-236.
    • (2003) Ann N y Acad Sci , vol.998 , pp. 223-236
    • Marx, A.1    Müller-Hermelink, H.K.2    Ströbel, P.3
  • 3
    • 33947694597 scopus 로고    scopus 로고
    • Deficiency of the autoimmune regulator AIRE in thymomas is insufficient to elicit autoimmune polyendocrino-pathy syndrome type 1 (APS-1)
    • Ströbel P, Murumägi A, Klein R, Luster M, Lahti M, Krohn K et al. Deficiency of the autoimmune regulator AIRE in thymomas is insufficient to elicit autoimmune polyendocrino-pathy syndrome type 1 (APS-1). J Pathol 2007; 211: 563-571.
    • (2007) J Pathol , vol.211 , pp. 563-571
    • Ströbel, P.1    Murumägi, A.2    Klein, R.3    Luster, M.4    Lahti, M.5    Krohn, K.6
  • 5
    • 12144291502 scopus 로고    scopus 로고
    • A functional variant of lymphoid tyrosine phosphatase is associated with type i diabetes
    • Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004; 36: 337-338.
    • (2004) Nat Genet , vol.36 , pp. 337-338
    • Bottini, N.1    Musumeci, L.2    Alonso, A.3    Rahmouni, S.4    Nika, K.5    Rostamkhani, M.6
  • 6
    • 20144387851 scopus 로고    scopus 로고
    • Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: The PTPN22 620W allele associates with multiple autoimmune phenotypes
    • Criswell LA, Pfeiffer KA, Lum RF, Gonzales B, Novitzke J, Kern M et al. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 2005; 76: 561-571.
    • (2005) Am J Hum Genet , vol.76 , pp. 561-571
    • Criswell, L.A.1    Pfeiffer, K.A.2    Lum, R.F.3    Gonzales, B.4    Novitzke, J.5    Kern, M.6
  • 7
    • 7044253358 scopus 로고    scopus 로고
    • Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus
    • Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JM et al. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes 2004; 53: 3020-3023.
    • (2004) Diabetes , vol.53 , pp. 3020-3023
    • Smyth, D.1    Cooper, J.D.2    Collins, J.E.3    Heward, J.M.4    Franklyn, J.A.5    Howson, J.M.6
  • 9
    • 14644445981 scopus 로고    scopus 로고
    • Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes
    • Zheng W, She JX. Genetic association between a lymphoid tyrosine phosphatase (PTPN22) and type 1 diabetes. Diabetes 2005; 54: 906-908.
    • (2005) Diabetes , vol.54 , pp. 906-908
    • Zheng, W.1    She, J.X.2
  • 10
    • 4143105691 scopus 로고    scopus 로고
    • Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE
    • Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004; 75: 504-507.
    • (2004) Am J Hum Genet , vol.75 , pp. 504-507
    • Kyogoku, C.1    Langefeld, C.D.2    Ortmann, W.A.3    Lee, A.4    Selby, S.5    Carlton, V.E.6
  • 11
    • 33846828820 scopus 로고    scopus 로고
    • Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene
    • Michou L, Lasbleiz S, Rat AC, Migliorini P, Balsa A, Westhovens R et al. Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene. Proc Natl Acad Sci USA 2007; 104: 1649-1654.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 1649-1654
    • Michou, L.1    Lasbleiz, S.2    Rat, A.C.3    Migliorini, P.4    Balsa, A.5    Westhovens, R.6
  • 13
  • 14
    • 28444469783 scopus 로고    scopus 로고
    • Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
    • Vang T, Congia M, Macis MD, Musumeci L, Orrú V, Zavattari P et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005; 37: 1317-1319.
    • (2005) Nat Genet , vol.37 , pp. 1317-1319
    • Vang, T.1    Congia, M.2    MacIs, M.D.3    Musumeci, L.4    Orrú, V.5    Zavattari, P.6
  • 15
    • 0035873070 scopus 로고    scopus 로고
    • A requirement for IL-2/IL-2 receptor signaling in intrathymic negative selection
    • Bassiri H, Carding SR. A requirement for IL-2/IL-2 receptor signaling in intrathymic negative selection. J Immunol 2001; 166: 5945-5954.
    • (2001) J Immunol , vol.166 , pp. 5945-5954
    • Bassiri, H.1    Carding, S.R.2
  • 16
    • 46649095805 scopus 로고    scopus 로고
    • PTPN22 R620W promotes production of anti-AChR autoantibodies and IL-2 in myasthenia gravis
    • Lefvert AK, Zhao Y, Ramanujam R, Yu S, Pirskanen R, Hammarström L. PTPN22 R620W promotes production of anti-AChR autoantibodies and IL-2 in myasthenia gravis. J Neuroimmunol 2008; 197: 110-113.
    • (2008) J Neuroimmunol , vol.197 , pp. 110-113
    • Lefvert, A.K.1    Zhao, Y.2    Ramanujam, R.3    Yu, S.4    Pirskanen, R.5    Hammarström, L.6
  • 17
    • 2242465734 scopus 로고    scopus 로고
    • A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele
    • Anjos S, Nguyen A, Ounissi-Benkalha H, Tessier MC, Polychronakos C. A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele. J Biol Chem 2002; 277: 46478-46486.
    • (2002) J Biol Chem , vol.277 , pp. 46478-46486
    • Anjos, S.1    Nguyen, A.2    Ounissi-Benkalha, H.3    Tessier, M.C.4    Polychronakos, C.5
  • 18
    • 0034548720 scopus 로고    scopus 로고
    • CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease
    • Kouki T, Sawai Y, Gardine CA, Fisfalen ME, Alegre ML, DeGroot LJ. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease. J Immunol 2000; 165: 6606-6611.
    • (2000) J Immunol , vol.165 , pp. 6606-6611
    • Kouki, T.1    Sawai, Y.2    Gardine, C.A.3    Fisfalen, M.E.4    Alegre, M.L.5    Degroot, L.J.6
  • 19
    • 0036659920 scopus 로고    scopus 로고
    • Paraneoplastic myasthenia gravis correlates with generation of mature naive CD4(+) T cells in thymomas
    • Ströbel P, Helmreich M, Menioudakis G, Lewin SR, Rüdiger T, Bauer A et al. Paraneoplastic myasthenia gravis correlates with generation of mature naive CD4(+) T cells in thymomas. Blood 2002; 100: 159-166.
    • (2002) Blood , vol.100 , pp. 159-166
    • Ströbel, P.1    Helmreich, M.2    Menioudakis, G.3    Lewin, S.R.4    Rüdiger, T.5    Bauer, A.6
  • 20
    • 0034957184 scopus 로고    scopus 로고
    • Mature, long-lived CD4+ and CD8+ T cells are generated by the thymoma in myasthenia gravis
    • Buckley C, Douek D, Newsom-Davis J, Vincent A, Willcox N. Mature, long-lived CD4+ and CD8+ T cells are generated by the thymoma in myasthenia gravis. Ann Neurol 2001; 50: 64-72.
    • (2001) Ann Neurol , vol.50 , pp. 64-72
    • Buckley, C.1    Douek, D.2    Newsom-Davis, J.3    Vincent, A.4    Willcox, N.5
  • 21
    • 0034551737 scopus 로고    scopus 로고
    • Thymomas alter the T-cell subset composition in the blood: A potential mechanism for thymoma-associated autoimmune disease
    • Hoffacker V, Schultz A, Tiesinga JJ, Gold R, Schalke B, Nix W et al. Thymomas alter the T-cell subset composition in the blood: a potential mechanism for thymoma-associated autoimmune disease. Blood 2000; 96: 3872-3879.
    • (2000) Blood , vol.96 , pp. 3872-3879
    • Hoffacker, V.1    Schultz, A.2    Tiesinga, J.J.3    Gold, R.4    Schalke, B.5    Nix, W.6
  • 22
    • 0037514517 scopus 로고    scopus 로고
    • A role for the B7-1/ B7-2:CD28/CTLA-4 pathway during negative selection
    • Buhlmann JE, Elkin SK, Sharpe AH. A role for the B7-1/ B7-2:CD28/CTLA-4 pathway during negative selection. J Immunol 2003; 170: 5421-5428.
    • (2003) J Immunol , vol.170 , pp. 5421-5428
    • Buhlmann, J.E.1    Elkin, S.K.2    Sharpe, A.H.3
  • 23
    • 9144227496 scopus 로고    scopus 로고
    • Role of CTLA-4 in the activation of single-and double-positive thymocytes
    • Kwon H, Jun HS, Khil LY, Yoon JW. Role of CTLA-4 in the activation of single-and double-positive thymocytes. J Immunol 2004; 173: 6645-6653.
    • (2004) J Immunol , vol.173 , pp. 6645-6653
    • Kwon, H.1    Jun, H.S.2    Khil, L.Y.3    Yoon, J.W.4
  • 24
    • 0026742211 scopus 로고
    • Characterization of hematopoietic intracellular protein tyrosine phosphatases: Description of a phosphatase containing an SH2 domain and another enriched in proline-, glutamic acid-, serine-, and threonine-rich sequences
    • Matthews RJ, Bowne DB, Flores E, Thomas ML. Characterization of hematopoietic intracellular protein tyrosine phosphatases: description of a phosphatase containing an SH2 domain and another enriched in proline-, glutamic acid-, serine-, and threonine-rich sequences. Mol Cell Biol 1992; 12: 2396-2405.
    • (1992) Mol Cell Biol , vol.12 , pp. 2396-2405
    • Matthews, R.J.1    Bowne, D.B.2    Flores, E.3    Thomas, M.L.4
  • 25
    • 0033559313 scopus 로고    scopus 로고
    • Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp
    • Cohen S, Dadi H, Shaoul E, Sharfe N, Roifman CM. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. Blood 1999; 93: 2013-2024.
    • (1999) Blood , vol.93 , pp. 2013-2024
    • Cohen, S.1    Dadi, H.2    Shaoul, E.3    Sharfe, N.4    Roifman, C.M.5
  • 26
    • 33744949634 scopus 로고    scopus 로고
    • Identification of substrates of human protein-tyrosine phosphatase PTPN22
    • Wu J, Katrekar A, Honigberg LA, Smith AM, Conn MT, Tang J et al. Identification of substrates of human protein-tyrosine phosphatase PTPN22. J Biol Chem 2006; 281: 11002-11010.
    • (2006) J Biol Chem , vol.281 , pp. 11002-11010
    • Wu, J.1    Katrekar, A.2    Honigberg, L.A.3    Smith, A.M.4    Conn, M.T.5    Tang, J.6
  • 28
    • 34548151158 scopus 로고    scopus 로고
    • An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus
    • Giraud M, Taubert R, Vandiedonck C, Ke X, Lévi-Strauss M, Pagani F et al. An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. Nature 2007; 448: 934-937.
    • (2007) Nature , vol.448 , pp. 934-937
    • Giraud, M.1    Taubert, R.2    Vandiedonck, C.3    Ke, X.4    Lévi-Strauss, M.5    Pagani, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.