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Volumn 15, Issue 4, 2003, Pages 430-435

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis

Author keywords

Autoimmunity; CD4+CD25+ regulatory T lymphocytes; Enteropathy; FOXP3; Immune dysfunction; IPEX; Polyendocrinopathy; Scurfy mouse

Indexed keywords

CD4 ANTIGEN; INTERLEUKIN 2 RECEPTOR;

EID: 0038434099     PISSN: 10408711     EISSN: None     Source Type: Journal    
DOI: 10.1097/00002281-200307000-00010     Document Type: Review
Times cited : (516)

References (46)
  • 1
    • 0033928382 scopus 로고    scopus 로고
    • X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3
    • Bennett CL, Yoshioka R, Kiyosawa H, et al.: X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. Am J Hum Genet 2000, 66:461-468.
    • (2000) Am J Hum Genet , vol.66 , pp. 461-468
    • Bennett, C.L.1    Yoshioka, R.2    Kiyosawa, H.3
  • 2
    • 0034526617 scopus 로고    scopus 로고
    • JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
    • Chatila TA, Blaeser F, Ho N, et al.: JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. J Clin Invest 2000, 106:R75-R81.
    • (2000) J Clin Invest , vol.106
    • Chatila, T.A.1    Blaeser, F.2    Ho, N.3
  • 3
    • 0020038580 scopus 로고
    • An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy
    • Powell BR, Buist NR, Stenzel P: An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 1982, 100:731-737. First description of the IPEX syndrome in a large family of five generations. Some affected members have late-onset symptoms and a mild phenotype.
    • (1982) J Pediatr , vol.100 , pp. 731-737
    • Powell, B.R.1    Buist, N.R.2    Stenzel, P.3
  • 4
    • 0034723729 scopus 로고    scopus 로고
    • Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome
    • Ferguson PJ, Blanton SH, Saulsbury FT, et al.: Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome. Am J Med Genet 2000, 90:390-397.
    • (2000) Am J Med Genet , vol.90 , pp. 390-397
    • Ferguson, P.J.1    Blanton, S.H.2    Saulsbury, F.T.3
  • 5
    • 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
    • Russell WL, Russell LB, Gower JS: 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 U S A 1959, 45:554-560.
    • (1959) Proc Natl Acad Sci U S A , vol.45 , pp. 554-560
    • Russell, W.L.1    Russell, L.B.2    Gower, J.S.3
  • 6
    • 0025317650 scopus 로고
    • The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome
    • Lyon MF, Peters J, Glenister PH, et al.: The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome. Proc Natl Acad Sci U S A 1990, 87:2433-2437.
    • (1990) Proc Natl Acad Sci U S A , vol.87 , pp. 2433-2437
    • Lyon, M.F.1    Peters, J.2    Glenister, P.H.3
  • 7
    • 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
    • Godfrey VL, Wilkinson JE, Rinchik EM, et al.: 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 U S A 1991, 88:5528-5532.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 5528-5532
    • Godfrey, V.L.1    Wilkinson, J.E.2    Rinchik, E.M.3
  • 8
    • 0030069074 scopus 로고    scopus 로고
    • Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes
    • Kanangat S, Blair P, Reddy R, et al.: Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes. Eur J Immunol 1996, 26:161-165.
    • (1996) Eur J Immunol , vol.26 , pp. 161-165
    • Kanangat, S.1    Blair, P.2    Reddy, R.3
  • 9
    • 0028171297 scopus 로고
    • CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse
    • Blair PJ, Bultman SJ, Haas JC, et al.: CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse. J Immunol 1994, 153:3764-3774.
    • (1994) J Immunol , vol.153 , pp. 3764-3774
    • Blair, P.J.1    Bultman, S.J.2    Haas, J.C.3
  • 10
    • 0033105648 scopus 로고    scopus 로고
    • Cellular and molecular characterization of the scurfy mouse mutant
    • Clark LB, Appleby MW, Brunkow ME, et al.: Cellular and molecular characterization of the scurfy mouse mutant. J Immunol 1999, 162:2546-2554.
    • (1999) J Immunol , vol.162 , pp. 2546-2554
    • Clark, L.B.1    Appleby, M.W.2    Brunkow, M.E.3
  • 11
    • 0028122921 scopus 로고
    • Transplantation of T cell-mediated, lymphoreticular disease from the scurfy (sf) mouse
    • Godfrey VL, Rouse BT, Wilkinson JE: Transplantation of T cell-mediated, lymphoreticular disease from the scurfy (sf) mouse. Am J Pathol 1994, 145:281-286.
    • (1994) Am J Pathol , vol.145 , pp. 281-286
    • Godfrey, V.L.1    Rouse, B.T.2    Wilkinson, J.E.3
  • 12
    • 0035162560 scopus 로고    scopus 로고
    • Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
    • Brunkow ME, Jeffery EW, Hjerrild KA, et al.: Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat Genet 2001, 27:68-73. This report describes the identification by positional cloning of the gene responsible for scurfy, Foxp3, and highlights the key role played by the protein product in the maintenance of normal immune homeostasis.
    • (2001) Nat Genet , vol.27 , pp. 68-73
    • Brunkow, M.E.1    Jeffery, E.W.2    Hjerrild, K.A.3
  • 13
    • 0035167967 scopus 로고    scopus 로고
    • The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
    • Bennett CL, Christie J, Ramsdell F, et al.: The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 2001, 27:20-21.
    • (2001) Nat Genet , vol.27 , pp. 20-21
    • Bennett, C.L.1    Christie, J.2    Ramsdell, F.3
  • 14
    • 0035163909 scopus 로고    scopus 로고
    • X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
    • Wildin RS, Ramsdell F, Peake J, et al.: X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet 2001, 27:18-20.
    • (2001) Nat Genet , vol.27 , pp. 18-20
    • Wildin, R.S.1    Ramsdell, F.2    Peake, J.3
  • 15
    • 0036346861 scopus 로고    scopus 로고
    • Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome
    • Wildin RS, Smyk-Pearson S, Filipovich AH: Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 2002, 39:537-545.
    • (2002) J Med Genet , vol.39 , pp. 537-545
    • Wildin, R.S.1    Smyk-Pearson, S.2    Filipovich, A.H.3
  • 16
    • 0035675798 scopus 로고    scopus 로고
    • IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena
    • Bennett CL, Ochs HD: IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. Curr Opin Pediatr 2001, 13:533-538.
    • (2001) Curr Opin Pediatr , vol.13 , pp. 533-538
    • Bennett, C.L.1    Ochs, H.D.2
  • 17
    • 0022515780 scopus 로고
    • Protracted diarrhoea of infancy: Evidence in support of an autoimmune variant
    • Mirakian R, Richardson A, Milla PJ, et al.: Protracted diarrhoea of infancy: evidence in support of an autoimmune variant. BMJ (Clin Res Ed) 1986, 293:1132-1136.
    • (1986) BMJ (Clin Res Ed) , vol.293 , pp. 1132-1136
    • Mirakian, R.1    Richardson, A.2    Milla, P.J.3
  • 18
    • 0031952153 scopus 로고    scopus 로고
    • Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: A clinicopathological survey of 47 cases
    • Goulet OJ, Brousse N, Canioni D, et al.: Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases. J Pediatr Gastroenterol Nutr 1998, 26:151-161.
    • (1998) J Pediatr Gastroenterol Nutr , vol.26 , pp. 151-161
    • Goulet, O.J.1    Brousse, N.2    Canioni, D.3
  • 20
    • 0017704624 scopus 로고
    • Congenital absence of islets of Langerhans
    • Dodge JA, Laurence KM: Congenital absence of islets of Langerhans. Arch Dis Child 1977, 52:411-413.
    • (1977) Arch Dis Child , vol.52 , pp. 411-413
    • Dodge, J.A.1    Laurence, K.M.2
  • 21
    • 0035053151 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome
    • Levy-Lahad E, Wildin RS: Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: further evidence for an X-linked lethal syndrome. J Pediatr 2001, 138:577-580.
    • (2001) J Pediatr , vol.138 , pp. 577-580
    • Levy-Lahad, E.1    Wildin, R.S.2
  • 22
    • 0029058637 scopus 로고
    • Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans
    • Roberts J, Searle J: Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans. Pediatr Pathol Lab Med 1995, 15:477-483.
    • (1995) Pediatr Pathol Lab Med , vol.15 , pp. 477-483
    • Roberts, J.1    Searle, J.2
  • 23
    • 0032869933 scopus 로고    scopus 로고
    • Identification of an autoimmune enteropathy-related 75-kilodalton antigen
    • Kobayashi I, Imamura K, Kubota M, et al.: Identification of an autoimmune enteropathy-related 75-kilodalton antigen. Gastroenterology 1999, 117:823-830.
    • (1999) Gastroenterology , vol.117 , pp. 823-830
    • Kobayashi, I.1    Imamura, K.2    Kubota, M.3
  • 24
    • 0025889086 scopus 로고
    • Congenital diabetes mellitus and fatal secretory diarrhea in two infants
    • Jonas MM, Bell MD, Eidson MS, et al.: Congenital diabetes mellitus and fatal secretory diarrhea in two infants. J Pediatr Gastroenterol Nutr 1991, 13:415-425.
    • (1991) J Pediatr Gastroenterol Nutr , vol.13 , pp. 415-425
    • Jonas, M.M.1    Bell, M.D.2    Eidson, M.S.3
  • 25
    • 0029894371 scopus 로고    scopus 로고
    • X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea
    • Peake JE, McCrossin RB, Byrne G, et al.: X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. Arch Dis Child Fetal Neonatal Ed 1996, 74:F195-F199.
    • (1996) Arch Dis Child Fetal Neonatal Ed , vol.74
    • Peake, J.E.1    McCrossin, R.B.2    Byrne, G.3
  • 26
    • 0027467983 scopus 로고
    • A Japanese family of X-linked autoimmune enteropathy with haemolytic anaemia and polyendocrinopathy
    • Satake N, Nakanishi M, Okano M, et al.: A Japanese family of X-linked autoimmune enteropathy with haemolytic anaemia and polyendocrinopathy. Eur J Pediatr 1993, 152:313-315.
    • (1993) Eur J Pediatr , vol.152 , pp. 313-315
    • Satake, N.1    Nakanishi, M.2    Okano, M.3
  • 27
    • 0036379775 scopus 로고    scopus 로고
    • X-chromosome inactivation analysis in a female carrier of FOXP3 mutation
    • Tommasini A, Ferrari S, Moratto D, et al.: X-chromosome inactivation analysis in a female carrier of FOXP3 mutation. Clin Exp Immunol 2002, 130:127-130. X-chromosome inactivation analysis performed in one female carrier shows no preferential inactivation
    • (2002) Clin Exp Immunol , vol.130 , pp. 127-130
    • Tommasini, A.1    Ferrari, S.2    Moratto, D.3
  • 28
    • 0031948477 scopus 로고    scopus 로고
    • A 75-kD autoantigen recognized by sera from patients with X-linked autoimmune enteropathy associated with nephropathy
    • Kobayashi I, Imamura K, Yamada M, et al.: A 75-kD autoantigen recognized by sera from patients with X-linked autoimmune enteropathy associated with nephropathy. Clin Exp Immunol 1998, 111:527-531.
    • (1998) Clin Exp Immunol , vol.111 , pp. 527-531
    • Kobayashi, I.1    Imamura, K.2    Yamada, M.3
  • 29
    • 0029791833 scopus 로고    scopus 로고
    • X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea
    • Di Rocco M, Marta R: X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. Arch Dis Child Fetal Neonatal Ed 1996, 75:F144.
    • (1996) Arch Dis Child Fetal Neonatal Ed , vol.75
    • Di Rocco, M.1    Marta, R.2
  • 30
    • 0035821985 scopus 로고    scopus 로고
    • Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation
    • Baud O, Goulet O, Canioni D, et al.: Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med 2001, 344:1758-1762. Report of the first IPEX patient treated with BMT. BMT was followed by a complete remission. The patient died of hemophagocytic syndrome 29 months posttransplant.
    • (2001) N Engl J Med , vol.344 , pp. 1758-1762
    • Baud, O.1    Goulet, O.2    Canioni, D.3
  • 31
    • 0009995893 scopus 로고
    • An X-linked T cell activation syndrome and response to cyclosporin A in one affected infant
    • Shigeoka A, Araneo B, Carey J, et al.: An X-linked T cell activation syndrome and response to cyclosporin A in one affected infant. Pediatr Res 1991, 29:163A.
    • (1991) Pediatr Res , vol.29
    • Shigeoka, A.1    Araneo, B.2    Carey, J.3
  • 32
    • 0035960124 scopus 로고    scopus 로고
    • A long-term survivor with the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
    • Kobayashi I, Kawamura N, Okano M: A long-term survivor with the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. N Engl J Med 2001, 345:999-1000.
    • (2001) N Engl J Med , vol.345 , pp. 999-1000
    • Kobayashi, I.1    Kawamura, N.2    Okano, M.3
  • 33
    • 0029055709 scopus 로고
    • Combination therapy with tacrolimus and betamethasone for a patient with X-linked autoimmune enteropathy
    • Kobayashi I, Nakanishi M, Okano M, et al.: Combination therapy with tacrolimus and betamethasone for a patient with X-linked autoimmune enteropathy. Eur J Pediatr 1995, 154:594-595.
    • (1995) Eur J Pediatr , vol.154 , pp. 594-595
    • Kobayashi, I.1    Nakanishi, M.2    Okano, M.3
  • 35
    • 0027270989 scopus 로고
    • Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5
    • Clark KL, Halay ED, Lai E, et al.: Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5. Nature 1993, 364:412-420.
    • (1993) Nature , vol.364 , pp. 412-420
    • Clark, K.L.1    Halay, E.D.2    Lai, E.3
  • 36
    • 0342614209 scopus 로고    scopus 로고
    • Unified nomenclature for the winged helix/forkhead transcription factors
    • Kaestner KH, Knochel W, Martinez DE: Unified nomenclature for the winged helix/forkhead transcription factors. Genes Dev 2000, 14:142-146.
    • (2000) Genes Dev , vol.14 , pp. 142-146
    • Kaestner, K.H.1    Knochel, W.2    Martinez, D.E.3
  • 37
    • 0028920898 scopus 로고
    • Analysis of hepatocyte nuclear factor-3 beta protein domains required for transcriptional activation and nuclear targeting
    • Qian X, Costa RH: Analysis of hepatocyte nuclear factor-3 beta protein domains required for transcriptional activation and nuclear targeting. Nucleic Acids Res 1995, 23:1184-1191.
    • (1995) Nucleic Acids Res , vol.23 , pp. 1184-1191
    • Qian, X.1    Costa, R.H.2
  • 38
    • 17344379513 scopus 로고    scopus 로고
    • Five years on the wings of fork head
    • Kaufmann E, Knochel W: Five years on the wings of fork head. Mech Dev 1996, 57:3-20.
    • (1996) Mech Dev , vol.57 , pp. 3-20
    • Kaufmann, E.1    Knochel, W.2
  • 39
    • 0035813231 scopus 로고    scopus 로고
    • Scurfin (foxp3) acts as a repressor of transcription and regulates T cell activation
    • +T cells reduces cytokine production and cell proliferation. Identification of forkhead-binding sequences next to critical nuclear factor of activated T-cell sites in many cytokine promoters.
    • (2001) J Biol Chem , vol.276 , pp. 37672-37679
    • Schubert, L.A.1    Jeffery, E.2    Zhang, Y.3
  • 40
    • 0035576221 scopus 로고    scopus 로고
    • The amount of scurfin protein determines peripheral T cell number and responsiveness
    • Khattri R, Kasprowicz D, Cox T, et al.: The amount of scurfin protein determines peripheral T cell number and responsiveness. J Immunol 2001, 167:6312-6320. Overexpression of Foxp3 in transgenic mice shows that these animals have a strongly depressed immune system.
    • (2001) J Immunol , vol.167 , pp. 6312-6320
    • Khattri, R.1    Kasprowicz, D.2    Cox, T.3
  • 41
    • 0035920153 scopus 로고    scopus 로고
    • Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors
    • Shu W, Yang H, Zhang L, et al.: Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors. J Biol Chem 2001, 276:27488-27497.
    • (2001) J Biol Chem , vol.276 , pp. 27488-27497
    • Shu, W.1    Yang, H.2    Zhang, L.3
  • 42
    • 18244378309 scopus 로고    scopus 로고
    • Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)
    • Kobayashi I, Shiari R, Yamada M, et al.: Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). J Med Genet 2001, 38:874-876.
    • (2001) J Med Genet , vol.38 , pp. 874-876
    • Kobayashi, I.1    Shiari, R.2    Yamada, M.3
  • 43
    • 0034812349 scopus 로고    scopus 로고
    • A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome
    • Bennett CL, Brunkow ME, Ramsdell F, et al.: A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome. Immunogenetics 2001, 53:435-439. Description of an unusual FOXP3 mutation within the first polyadenylation signal that results in a nonspecific degradation of FOXP3 mRNA.
    • (2001) Immunogenetics , vol.53 , pp. 435-439
    • Bennett, C.L.1    Brunkow, M.E.2    Ramsdell, F.3
  • 44
    • 0035136980 scopus 로고    scopus 로고
    • The murine mutation scurfy (sf) results in an antigen-dependent lymphoproliferative disease with altered T cell sensitivity
    • Zahorsky-Reeves JL, Wilkinson JE: The murine mutation scurfy (sf) results in an antigen-dependent lymphoproliferative disease with altered T cell sensitivity. Eur J Immunol 2001, 31:196-204.
    • (2001) Eur J Immunol , vol.31 , pp. 196-204
    • Zahorsky-Reeves, J.L.1    Wilkinson, J.E.2
  • 45
    • 0035316363 scopus 로고    scopus 로고
    • Policing the regulators
    • Sakaguchi S: Policing the regulators. Nat Immunol 2001, 2:283-284.
    • (2001) Nat Immunol , vol.2 , pp. 283-284
    • Sakaguchi, S.1
  • 46
    • 0035180065 scopus 로고    scopus 로고
    • Immunologic tolerance maintained by CD25+ CD4+ regulatory T cells: Their common role in controlling autoimmunity, tumor immunity, and transplantation tolerance
    • Sakaguchi S, Sakaguchi N, Shimizu J, et al.: Immunologic tolerance maintained by CD25+ CD4+ regulatory T cells: their common role in controlling autoimmunity, tumor immunity, and transplantation tolerance. Immunol Rev 2001, 182:18-32. Detailed review of regulatory T cells.
    • (2001) Immunol Rev , vol.182 , pp. 18-32
    • Sakaguchi, S.1    Sakaguchi, N.2    Shimizu, J.3


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