Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome, Journal of Medical Genetics, vol.39, issue.8, pp.537-582, 2002. ,
DOI : 10.1136/jmg.39.8.537
An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy, The Journal of Pediatrics, vol.100, issue.5, pp.731-738, 1982. ,
DOI : 10.1016/S0022-3476(82)80573-8
Regional localization of a novel X-linked immunodeficiency with autoimmune disease and endocrinopathies to the Wiskott-Aldrich locus xp11.2, Pediatr Res, vol.33, p.158, 1993. ,
X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3, The American Journal of Human Genetics, vol.66, issue.2, pp.461-469, 2000. ,
DOI : 10.1086/302761
Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome, American Journal of Medical Genetics, vol.102, issue.5, pp.390-397, 2000. ,
DOI : 10.1002/(SICI)1096-8628(20000228)90:5<390::AID-AJMG9>3.0.CO;2-M
EXCEPTIONAL INHERITANCE OF A SEX-LINKED GENE IN THE MOUSE EXPLAINED ON THE BASIS THAT THE X/O SEX-CHROMOSOME CONSTITUTION IS FEMALE, Proceedings of the National Academy of Sciences, vol.45, issue.4, pp.554-60, 1959. ,
DOI : 10.1073/pnas.45.4.554
X-linked lymphoreticular disease in the scurfy (sf) mutant mouse, Am J Pathol, vol.138, issue.6, pp.1379-87, 1991. ,
Fatal lymphoreticular disease in the scurfy (sf) mouse requires T cells that mature in a sf thymic environment: potential model for thymic education., Proceedings of the National Academy of Sciences, vol.88, issue.13, pp.5528-5560, 1991. ,
DOI : 10.1073/pnas.88.13.5528
CD4CCD8ÿ T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse, J Immunol, vol.153, issue.8, pp.3764-74, 1994. ,
Transplantation of T cell-mediated , lymphoreticular disease from the scurfy (sf) mouse, Am J Pathol, vol.145, issue.2, pp.281-287, 1994. ,
Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes, European Journal of Immunology, vol.167, issue.1, pp.161-166, 1996. ,
DOI : 10.1002/eji.1830260125
Cellular and molecular characterization of the scurfy mouse mutant, J Immunol, vol.162, issue.5, pp.2546-54, 1999. ,
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, vol.29, issue.2, pp.471-478, 1995. ,
DOI : 10.1006/geno.1995.9979
The mouse scurfy (sf) mutation is tightly linked to Gata1 and Tfe3 on the proximal X Chromosome, Mammalian Genome, vol.237, issue.10, pp.652-656, 1994. ,
DOI : 10.1007/BF00411464
Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse, Nature Genetics, vol.27, issue.1, pp.68-73, 2001. ,
DOI : 10.1038/83784
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy, Nature Genetics, vol.27, issue.1, pp.18-20, 2001. ,
DOI : 10.1038/83707
The immune dysregulation, polyendocrinopathy, enteropathy , X-linked syndrome (IPEX) is caused by mutations of foxp3, Nat Genet, vol.27, issue.1, pp.20-21, 2001. ,
JM2, encoding a fork head???related protein, is mutated in X-linked autoimmunity???allergic disregulation syndrome, Journal of Clinical Investigation, vol.106, issue.12, pp.75-81, 2000. ,
DOI : 10.1172/JCI11679
Prospective immunological profiling in a case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), Clinical & Experimental Immunology, vol.15, issue.2, pp.373-381, 2004. ,
DOI : 10.1111/j.1365-2249.2004.02537.x
Dermatologic and Immunologic Findings in the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome, Archives of Dermatology, vol.140, issue.4, pp.466-72, 2004. ,
DOI : 10.1001/archderm.140.4.466
X-chromosome inactivation analysis in a female carrier of FOXP3 mutation, Clinical and Experimental Immunology, vol.88, issue.1, pp.127-157, 2002. ,
DOI : 10.1038/86302
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA???AAUGAA) leads to the IPEX syndrome, Immunogenetics, vol.53, issue.6, pp.435-444, 2001. ,
DOI : 10.1007/s002510100358
The rate of spontaneous mutation of a human gene, Journal of Genetics, vol.15, issue.3, pp.317-344, 1935. ,
DOI : 10.1007/BF02982403
Foxp3 programs the development and function of CD4+CD25+ regulatory T cells, Nature Immunology, vol.4, issue.4, pp.330-336, 2003. ,
DOI : 10.1038/ni904
Control of Regulatory T Cell Development by the Transcription Factor Foxp3, Science, vol.299, issue.5609, pp.1057-61, 2003. ,
DOI : 10.1126/science.1079490
An essential role for Scurfin in CD4+CD25+ T regulatory cells, Nature Immunology, vol.4, issue.4, pp.337-379, 2003. ,
DOI : 10.1038/ni909
Scurfin (FoxP3) Controls T-Dependent Immune Responses In Vivo Through Regulation of CD4+ T Cell Effector Function, The Journal of Immunology, vol.171, issue.3, pp.1216-1239, 2003. ,
DOI : 10.4049/jimmunol.171.3.1216
Scurfin (FOXP3) Acts as a Repressor of Transcription and Regulates T Cell Activation, Journal of Biological Chemistry, vol.276, issue.40, pp.37672-37681, 2001. ,
DOI : 10.1074/jbc.M104521200
T-regulatory 1 cells: A novel subset of CD4+ T cells with immunoregulatory properties, Journal of Allergy and Clinical Immunology, vol.106, issue.1, pp.109-121, 2000. ,
DOI : 10.1067/mai.2000.106635
Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation, New England Journal of Medicine, vol.344, issue.23, pp.1758-62, 2001. ,
DOI : 10.1056/NEJM200106073442304
Neil Buist has argued that prenatal bone marrow transplant might prevent early-onset disease. Personal communication to R, S.W, 2000. ,
Rescue of the autoimmune scurfy mouse by partial bone marrow transplantation or by injection with T-enriched splenocytes, Clinical and Experimental Immunology, vol.167, issue.2, pp.193-202, 2003. ,
DOI : 10.1038/ni909
Crucial role of FOXP3 in the development and function of human CD25+CD4+ regulatory T cells, International Immunology, vol.16, issue.11, pp.1643-56, 2004. ,
DOI : 10.1093/intimm/dxh165
A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type???1 diabetes, Immunogenetics, vol.55, issue.3, pp.149-56, 2003. ,
DOI : 10.1007/s00251-003-0559-8
No association between variation of the foxp3 gene and common type 1 diabetes in the Sardinian population Glucocorticoids upregulate foxp3 expression and regulatory T cells in asthma, Diabetes J Allergy Clin Immunol, vol.53114, issue.76, pp.1425-1458, 2004. ,
Gene and Evidence for Genetic Heterogeneity in the Immunodysregulation, Polyendocrinopathy, Enteropathy Syndrome, The Journal of Clinical Endocrinology & Metabolism, vol.88, issue.12, pp.6034-6043, 2003. ,
DOI : 10.1210/jc.2003-031080
Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain., Proceedings of the National Academy of Sciences, vol.92, issue.2, pp.377-81, 1995. ,
DOI : 10.1073/pnas.92.2.377
X-inactivation profile reveals extensive variability in X-linked gene expression in females, Nature, vol.211, issue.7031, pp.400-404, 2005. ,
DOI : 10.1006/geno.1997.4797