메뉴 건너뛰기




Volumn 25, Issue SUPPL., 2005, Pages 56-62

IPEX and FOXP3: Clinical and research perspectives

Author keywords

Cell based therapy; Gene therapy; Imprinting; T regulatory cells; X inactivation

Indexed keywords

CD4 ANTIGEN; CYCLOSPORIN A; GENE PRODUCT; GLUCOCORTICOID; INSULIN; INTERLEUKIN 2 RECEPTOR ALPHA; TACROLIMUS; TRANSCRIPTION FACTOR FOXP3;

EID: 28444434811     PISSN: 08968411     EISSN: 10959157     Source Type: Journal    
DOI: 10.1016/j.jaut.2005.04.008     Document Type: Review
Times cited : (133)

References (39)
  • 1
    • 0036346861 scopus 로고    scopus 로고
    • Clinical and molecular features of the immuno-dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
    • R.S. Wildin, S.K. Smyk-Pearson, and A.H. Filipovich Clinical and molecular features of the immuno-dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome J Med Genet 39 8 2002 537 545
    • (2002) J Med Genet , vol.39 , Issue.8 , pp. 537-545
    • Wildin, R.S.1    Smyk-Pearson, S.K.2    Filipovich, A.H.3
  • 2
    • 0020038580 scopus 로고
    • An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy
    • B. Powell, N. Buist, and P. Stenzel An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy J Pediatr 100 5 1982 731 737
    • (1982) J Pediatr , vol.100 , Issue.5 , pp. 731-737
    • Powell, B.1    Buist, N.2    Stenzel, P.3
  • 3
    • 4243289494 scopus 로고
    • Regional localization of a novel X-linked immunodeficiency with autoimmune disease and endocrinopathies to the Wiskott-Aldrich locus xp11.2
    • A.O. Shigeoka, P.F. Chance, P.R. Fain, D.F. Barker, L.S. Book, and M.L. Rallison Regional localization of a novel X-linked immunodeficiency with autoimmune disease and endocrinopathies to the Wiskott-Aldrich locus xp11.2 Pediatr Res 33 4 pt 2 1993 158A
    • (1993) Pediatr Res , vol.33 , Issue.4 PART 2
    • Shigeoka, A.O.1    Chance, P.F.2    Fain, P.R.3    Barker, D.F.4    Book, L.S.5    Rallison, M.L.6
  • 4
    • 0033928382 scopus 로고    scopus 로고
    • X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to xp11.23-xq13.3
    • C.L. Bennett, R. Yoshioka, H. Kiyosawa, D.F. Barker, P.R. Fain, and A.O. Shigeoka X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to xp11.23-xq13.3 Am J Hum Genet 66 2000 461 468
    • (2000) Am J Hum Genet , vol.66 , pp. 461-468
    • Bennett, C.L.1    Yoshioka, R.2    Kiyosawa, H.3    Barker, D.F.4    Fain, P.R.5    Shigeoka, A.O.6
  • 6
    • 0001166375 scopus 로고
    • Exceptional inheritance of a sex-linked gene in the mouse explained on the basis that the x/o sex-chromosome constitution is female
    • W.L. Russell, L.B. Russell, and J.S. Gower Exceptional inheritance of a sex-linked gene in the mouse explained on the basis that the x/o sex-chromosome constitution is female Proc Natl Acad Sci USA 45 1959 554 560
    • (1959) Proc Natl Acad Sci USA , vol.45 , pp. 554-560
    • Russell, W.L.1    Russell, L.B.2    Gower, J.S.3
  • 7
    • 0026178213 scopus 로고
    • X-linked lymphoreticular disease in the scurfy (sf) mutant mouse
    • V.L. Godfrey, J.E. Wilkinson, and L.B. Russell X-linked lymphoreticular disease in the scurfy (sf) mutant mouse Am J Pathol 138 6 1991 1379 1387
    • (1991) Am J Pathol , vol.138 , Issue.6 , pp. 1379-1387
    • Godfrey, V.L.1    Wilkinson, J.E.2    Russell, L.B.3
  • 8
    • 0026043866 scopus 로고
    • Fatal lymphoreticular disease in the scurfy (sf) mouse requires T cells that mature in a sf thymic environment: Potential model for thymic education
    • V.L. Godfrey, J.E. Wilkinson, E.M. Rinchik, and L.B. Russell Fatal lymphoreticular disease in the scurfy (sf) mouse requires T cells that mature in a sf thymic environment: Potential model for thymic education Proc Natl Acad Sci USA 88 13 1991 5528 5532
    • (1991) Proc Natl Acad Sci USA , vol.88 , Issue.13 , pp. 5528-5532
    • Godfrey, V.L.1    Wilkinson, J.E.2    Rinchik, E.M.3    Russell, L.B.4
  • 9
    • 0028171297 scopus 로고
    • CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse
    • P.J. Blair, S.J. Bultman, J.C. Haas, B.T. Rouse, J.E. Wilkinson, and V.L. Godfrey CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse J Immunol 153 8 1994 3764 3774
    • (1994) J Immunol , vol.153 , Issue.8 , pp. 3764-3774
    • Blair, P.J.1    Bultman, S.J.2    Haas, J.C.3    Rouse, B.T.4    Wilkinson, J.E.5    Godfrey, V.L.6
  • 10
    • 0028122921 scopus 로고
    • Transplantation of T cell-mediated, lymphoreticular disease from the scurfy (sf) mouse
    • V.L. Godfrey, B.T. Rouse, and J.E. Wilkinson Transplantation of T cell-mediated, lymphoreticular disease from the scurfy (sf) mouse Am J Pathol 145 2 1994 281 286
    • (1994) Am J Pathol , vol.145 , Issue.2 , pp. 281-286
    • Godfrey, V.L.1    Rouse, B.T.2    Wilkinson, J.E.3
  • 11
    • 0030069074 scopus 로고    scopus 로고
    • Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes
    • S. Kanangat, P. Blair, R. Reddy, M. Deheshia, V. Godfrey, and B.T. Rouse Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes Eur J Immunol 26 1 1996 161 165
    • (1996) Eur J Immunol , vol.26 , Issue.1 , pp. 161-165
    • Kanangat, S.1    Blair, P.2    Reddy, R.3    Deheshia, M.4    Godfrey, V.5    Rouse, B.T.6
  • 13
    • 0029112720 scopus 로고
    • The mouse homolog of the Wiskott-Aldrich syndrome protein (wasp) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome
    • J.M. Derry, P. Wiedemann, P. Blair, Y. Wang, J.A. Kerns, and V. Lemahieu The mouse homolog of the Wiskott-Aldrich syndrome protein (wasp) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome Genomics 29 2 1995 471 477
    • (1995) Genomics , vol.29 , Issue.2 , pp. 471-477
    • Derry, J.M.1    Wiedemann, P.2    Blair, P.3    Wang, Y.4    Kerns, J.A.5    Lemahieu, V.6
  • 14
    • 0028518539 scopus 로고
    • The mouse scurfy (sf) mutation is tightly linked to gata1 and tfe3 on the proximal X chromosome
    • P.J. Blair, D.A. Carpenter, V.L. Godfrey, L.B. Russell, J.E. Wilkinson, and E.M. Rinchik The mouse scurfy (sf) mutation is tightly linked to gata1 and tfe3 on the proximal X chromosome Mamm Genome 5 10 1994 652 654
    • (1994) Mamm Genome , vol.5 , Issue.10 , pp. 652-654
    • Blair, P.J.1    Carpenter, D.A.2    Godfrey, V.L.3    Russell, L.B.4    Wilkinson, J.E.5    Rinchik, E.M.6
  • 15
    • 0035162560 scopus 로고    scopus 로고
    • Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
    • M.E. Brunkow, E.W. Jeffery, K.A. Hjerrild, B. Paeper, L.B. Clark, and S.A. Yasayko Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse Nat Genet 27 1 2001 68 73
    • (2001) Nat Genet , vol.27 , Issue.1 , pp. 68-73
    • Brunkow, M.E.1    Jeffery, E.W.2    Hjerrild, K.A.3    Paeper, B.4    Clark, L.B.5    Yasayko, S.A.6
  • 16
    • 0035163909 scopus 로고    scopus 로고
    • X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
    • R.S. Wildin, F. Ramsdell, J. Peake, F. Faravelli, J.L. Casanova, and N. Buist X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy Nat Genet 27 1 2001 18 20
    • (2001) Nat Genet , vol.27 , Issue.1 , pp. 18-20
    • Wildin, R.S.1    Ramsdell, F.2    Peake, J.3    Faravelli, F.4    Casanova, J.L.5    Buist, N.6
  • 17
    • 0035167967 scopus 로고    scopus 로고
    • The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of foxp3
    • C.L. Bennett, J. Christie, F. Ramsdell, M.E. Brunkow, P.J. Ferguson, and L. Whitesell The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of foxp3 Nat Genet 27 1 2001 20 21
    • (2001) Nat Genet , vol.27 , Issue.1 , pp. 20-21
    • Bennett, C.L.1    Christie, J.2    Ramsdell, F.3    Brunkow, M.E.4    Ferguson, P.J.5    Whitesell, L.6
  • 18
    • 0034526617 scopus 로고    scopus 로고
    • Jm2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
    • T.A. Chatila, F. Blaeser, N. Ho, H.M. Lederman, C. Voulgaropoulos, and C. Helms Jm2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome J Clin Invest 106 12 2000 R75 R81
    • (2000) J Clin Invest , vol.106 , Issue.12
    • Chatila, T.A.1    Blaeser, F.2    Ho, N.3    Lederman, H.M.4    Voulgaropoulos, C.5    Helms, C.6
  • 19
    • 3543045638 scopus 로고    scopus 로고
    • Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX)
    • A.C. Bakke, M.Z. Purtzer, and R.S. Wildin Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) Clin Exp Immunol 137 2 2004 373 378
    • (2004) Clin Exp Immunol , vol.137 , Issue.2 , pp. 373-378
    • Bakke, A.C.1    Purtzer, M.Z.2    Wildin, R.S.3
  • 20
    • 11144355358 scopus 로고    scopus 로고
    • Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
    • D.S. Nieves, R.P. Phipps, S.J. Pollock, H.D. Ochs, Q. Zhu, and G.A. Scott Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome Arch Dermatol 140 4 2004 466 472
    • (2004) Arch Dermatol , vol.140 , Issue.4 , pp. 466-472
    • Nieves, D.S.1    Phipps, R.P.2    Pollock, S.J.3    Ochs, H.D.4    Zhu, Q.5    Scott, G.A.6
  • 22
    • 0034812349 scopus 로고    scopus 로고
    • A rare polyadenylation signal mutation of the foxp3 gene (aauaaaaaugaa) leads to the IPEX syndrome
    • C.L. Bennett, M.E. Brunkow, F. Ramsdell, K.C. O'Briant, Q. Zhu, and R.L. Fuleihan A rare polyadenylation signal mutation of the foxp3 gene (aauaaaaaugaa) leads to the IPEX syndrome Immunogenetics 53 2001 435 439
    • (2001) Immunogenetics , vol.53 , pp. 435-439
    • Bennett, C.L.1    Brunkow, M.E.2    Ramsdell, F.3    O'Briant, K.C.4    Zhu, Q.5    Fuleihan, R.L.6
  • 23
    • 77951509701 scopus 로고
    • The rate of spontaneous mutation of a human gene
    • J. Haldane The rate of spontaneous mutation of a human gene J Genet 31 1935 317 327
    • (1935) J Genet , vol.31 , pp. 317-327
    • Haldane, J.1
  • 24
    • 0037385330 scopus 로고    scopus 로고
    • Foxp3 programs the development and function of CD4+CD25+ regulatory T cells
    • J.D. Fontenot, M.A. Gavin, and A.Y. Rudensky Foxp3 programs the development and function of CD4+CD25+ regulatory T cells Nat Immunol 4 4 2003 330 336
    • (2003) Nat Immunol , vol.4 , Issue.4 , pp. 330-336
    • Fontenot, J.D.1    Gavin, M.A.2    Rudensky, A.Y.3
  • 25
    • 0347785480 scopus 로고    scopus 로고
    • Control of regulatory T-cell development by the transcription factor foxp3
    • S. Hori, T. Nomura, and S. Sakaguchi Control of regulatory T-cell development by the transcription factor foxp3 Science 299 5609 2003 1057 1061
    • (2003) Science , vol.299 , Issue.5609 , pp. 1057-1061
    • Hori, S.1    Nomura, T.2    Sakaguchi, S.3
  • 26
    • 0037385314 scopus 로고    scopus 로고
    • An essential role for scurfin in CD4+CD25+ T regulatory cells
    • R. Khattri, T. Cox, S.A. Yasayko, and F. Ramsdell An essential role for scurfin in CD4+CD25+ T regulatory cells Nat Immunol 4 4 2003 337 342
    • (2003) Nat Immunol , vol.4 , Issue.4 , pp. 337-342
    • Khattri, R.1    Cox, T.2    Yasayko, S.A.3    Ramsdell, F.4
  • 27
    • 0042346231 scopus 로고    scopus 로고
    • Scurfin (foxp3) controls T-dependent immune responses in vivo through regulation of CD4(+) T cell effector function
    • D.J. Kasprowicz, P.S. Smallwood, A.J. Tyznik, and S.F. Ziegler Scurfin (foxp3) controls T-dependent immune responses in vivo through regulation of CD4(+) T cell effector function J Immunol 171 3 2003 1216 1223
    • (2003) J Immunol , vol.171 , Issue.3 , pp. 1216-1223
    • Kasprowicz, D.J.1    Smallwood, P.S.2    Tyznik, A.J.3    Ziegler, S.F.4
  • 28
    • 0035813231 scopus 로고    scopus 로고
    • Scurfin (foxp3) acts as a repressor of transcription and regulates T cell activation
    • L.A. Schubert, E. Jeffery, Y. Zhang, F. Ramsdell, and S.F. Ziegler Scurfin (foxp3) acts as a repressor of transcription and regulates T cell activation J Biol Chem 276 40 2001 37672 37679
    • (2001) J Biol Chem , vol.276 , Issue.40 , pp. 37672-37679
    • Schubert, L.A.1    Jeffery, E.2    Zhang, Y.3    Ramsdell, F.4    Ziegler, S.F.5
  • 29
    • 0033928257 scopus 로고    scopus 로고
    • T-regulatory 1 cells: A novel subset of CD4 T cells with immunoregulatory properties
    • M.K. Levings, and M.G. Roncarolo T-regulatory 1 cells: A novel subset of CD4 T cells with immunoregulatory properties J Allergy Clin Immunol 106 1 Pt 2 2000 S109 S112
    • (2000) J Allergy Clin Immunol , vol.106 , Issue.1 PART 2
    • Levings, M.K.1    Roncarolo, M.G.2
  • 30
    • 0035821985 scopus 로고    scopus 로고
    • Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX) by allogeneic bone marrow transplantation
    • O. Baud, O. Goulet, D. Canioni, F. Le Deist, I. Radford, and D. Rieu Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX) by allogeneic bone marrow transplantation N Engl J Med 344 23 2001 1758 1762
    • (2001) N Engl J Med , vol.344 , Issue.23 , pp. 1758-1762
    • Baud, O.1    Goulet, O.2    Canioni, D.3    Le Deist, F.4    Radford, I.5    Rieu, D.6
  • 32
    • 0043246615 scopus 로고    scopus 로고
    • Rescue of the autoimmune scurfy mouse by partial bone marrow transplantation or by injection with T-enriched splenocytes
    • S.K. Smyk-Pearson, A.C. Bakke, P.K. Held, and R.S. Wildin Rescue of the autoimmune scurfy mouse by partial bone marrow transplantation or by injection with T-enriched splenocytes Clin Exp Immunol 133 2 2003 193 199
    • (2003) Clin Exp Immunol , vol.133 , Issue.2 , pp. 193-199
    • Smyk-Pearson, S.K.1    Bakke, A.C.2    Held, P.K.3    Wildin, R.S.4
  • 33
    • 8344275995 scopus 로고    scopus 로고
    • Crucial role of foxp3 in the development and function of human CD25+CD4+ regulatory T cells
    • H. Yagi, T. Nomura, K. Nakamura, S. Yamazaki, T. Kitawaki, and S. Hori Crucial role of foxp3 in the development and function of human CD25+CD4+ regulatory T cells Int Immunol 16 11 2004 1643 1656
    • (2004) Int Immunol , vol.16 , Issue.11 , pp. 1643-1656
    • Yagi, H.1    Nomura, T.2    Nakamura, K.3    Yamazaki, S.4    Kitawaki, T.5    Hori, S.6
  • 34
    • 0038345163 scopus 로고    scopus 로고
    • A functional polymorphism in the promoter/enhancer region of the foxp3/scurfin gene associated with type 1 diabetes
    • W.M. Bassuny, K. Ihara, Y. Sasaki, R. Kuromaru, H. Kohno, and N. Matsuura A functional polymorphism in the promoter/enhancer region of the foxp3/scurfin gene associated with type 1 diabetes Immunogenetics 55 3 2003 149 156
    • (2003) Immunogenetics , vol.55 , Issue.3 , pp. 149-156
    • Bassuny, W.M.1    Ihara, K.2    Sasaki, Y.3    Kuromaru, R.4    Kohno, H.5    Matsuura, N.6
  • 35
    • 3042779888 scopus 로고    scopus 로고
    • No association between variation of the foxp3 gene and common type 1 diabetes in the Sardinian population
    • P. Zavattari, E. Deidda, M. Pitzalis, B. Zoa, L. Moi, and R. Lampis No association between variation of the foxp3 gene and common type 1 diabetes in the Sardinian population Diabetes 53 7 2004 1911 1914
    • (2004) Diabetes , vol.53 , Issue.7 , pp. 1911-1914
    • Zavattari, P.1    Deidda, E.2    Pitzalis, M.3    Zoa, B.4    Moi, L.5    Lampis, R.6
  • 37
    • 0347993107 scopus 로고    scopus 로고
    • Mutational analysis of the foxp3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome
    • C.J. Owen, C.E. Jennings, H. Imrie, A. Lachaux, N.A. Bridges, and T.D. Cheetham Mutational analysis of the foxp3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome J Clin Endocrinol Metab 88 12 2003 6034 6039
    • (2003) J Clin Endocrinol Metab , vol.88 , Issue.12 , pp. 6034-6039
    • Owen, C.J.1    Jennings, C.E.2    Imrie, H.3    Lachaux, A.4    Bridges, N.A.5    Cheetham, T.D.6
  • 38
    • 0028878330 scopus 로고
    • Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain
    • J.P. DiSanto, W. Muller, D. Guy-Grand, A. Fischer, and K. Rajewsky Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain Proc Natl Acad Sci USA 92 2 1995 377 381
    • (1995) Proc Natl Acad Sci USA , vol.92 , Issue.2 , pp. 377-381
    • Disanto, J.P.1    Muller, W.2    Guy-Grand, D.3    Fischer, A.4    Rajewsky, K.5
  • 39
    • 15244353967 scopus 로고    scopus 로고
    • X-inactivation profile reveals extensive variability in X-linked gene expression in females
    • L. Carrel, and H.F. Willard X-inactivation profile reveals extensive variability in X-linked gene expression in females Nature 434 7031 2005 400 404
    • (2005) Nature , vol.434 , Issue.7031 , pp. 400-404
    • Carrel, L.1    Willard, H.F.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.