Insights into type 1 diabetes from the autoimmune polyendocrine syndromes

Current Opinion in Endocrinology, Diabetes and Obesity

Volumn 20, Issue 4, 2013, Pages 271-278

  Cheng, Mickie H ^a   Anderson, Mark S ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

and X linked disease; autoimmune regulator gene; enteropathy; immune dysregulation; immune tolerance; polyendocrinopathy; polyglandular autoimmunity

Indexed keywords

ANTIGEN EXPRESSION; DISEASE ASSOCIATION; HUMAN; IMMUNOLOGICAL TOLERANCE; IMMUNOMODULATION; IMMUNOREGULATION; INSULIN DEPENDENT DIABETES MELLITUS; MULTIPLE ENDOCRINE ADENOMATOSIS; NEUROFIBROMATOSIS; NONHUMAN; REGULATORY T LYMPHOCYTE; REVIEW; SIGNAL TRANSDUCTION; T LYMPHOCYTE ACTIVATION; THYMUS;

ANIMALS; DIABETES MELLITUS, TYPE 1; HUMANS; IMMUNE TOLERANCE; POLYENDOCRINOPATHIES, AUTOIMMUNE; T-LYMPHOCYTES, REGULATORY;

EID: 84880294486     PISSN: 1752296X     EISSN: 17522978     Source Type: Journal    
DOI: 10.1097/MED.0b013e32836313eb     Document Type: Review

References (73)

1. Triolo TM, Armstrong TK, McFann K, et al. Additional autoimmune disease found in 33% of patients at type 1 diabetes onset. Diabetes Care 2011; 34:1211-1213.
2. Verge CF, Gianani R, Yu L, et al. Late progression to diabetes and evidence for chronic beta-cell autoimmunity in identical twins of patients with type I diabetes. Diabetes 1995; 44:1176-1179.
3. Hyttinen V, Kaprio J, Kinnunen L, et al. Genetic liability of type 1 diabetes and the onset age among 22650 young Finnish twin pairs: a nationwide follow-up study. Diabetes 2003; 52:1052-1055.
4. Cheng MH, Anderson MS. Monogenic autoimmunity. Annu Rev Immunol 2012; 30:393-427.
5. Walker LSK, Abbas AK. The enemy within: keeping self-reactive T cells at bay in the periphery. Nat Rev Immunol 2002; 2:11-19.
6. Mueller DL. Mechanisms maintaining peripheral tolerance. Nat Immunol 2010; 11:21-27.
7. Betterle C, Greggio NA, Volpato M. Clinical review 93: autoimmune poly-glandular syndrome type 1. J Clin Endocrinol Metab 1998; 83:1049-1055.
8. Perheentupa J. APS-I/APECED: the clinical disease and therapy. Endocrinol Metab Clin North Am 2002; 31:295-320; vi.
9. Popler J, Alimohammadi M, Kämpe O, et al. Autoimmune polyendocrine syn-drome type 1: utility of KCNRG autoantibodiesasa marker of active pulmonary disease and successful treatment with rituximab. Pediatr Pulmonol 2012; 47:84-87.
10. Su MA, Davini D, Cheng P, et al. Defective autoimmune regulator-dependent central tolerance to myelin protein zero is linked to autoimmune peripheral neuropathy. J Immunol (Baltimore, Md:1950) 2012; 188:4906-4912.
11. Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dys trophy. J Clin Endocrinol Metab 2006; 91:2843-2850.
12. Husebye ES, Perheentupa J, Rautemaa R, Kämpe O. Clinical manifestations and managementofpatients with autoimmune polyendocrine syndrome type I. J Intern Med 2009; 265:514-529.
13. Aaltonen J, Björses P, Perheentupa J, et al. Anautoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 1997; 17:399-403.
14. Nagamine K, Peterson P, Scott HS, et al. Positional cloning of the APECED gene. Nat Genet 1997; 17:393-398.
15. Gibson TJ, Ramu C, Gemünd C, Aasland R. The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor. Trends Biochem Sci 1998; 23:242-244.
16. Anderson MS, Venanzi ES, Klein L, et al. Projection of an immunological self shadow within the thymus by the Aire protein. Science 2002; 298:1395-1401.
17. Ramsey C, Winqvist O, Puhakka L, et al. Aire deficient mice develop multiple features of APECED phenotype and show altered immune response. Hum Mol Genet 2002; 11:397-409.
18. Kuroda N, Mitani T, Takeda N, et al. Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Aire-deficient mice. J Immunol (Baltimore Md: 1950) 2005; 174:1862-1870.
19. Gardner JM, Devoss JJ, Friedman RS, et al. Deletional tolerance mediated by extrathymic Aire-expressing cells. Science (New York, NY) 2008; 321:843-847.
20. Gardner JM, Fletcher AL, Anderson MS, Turley SJ. AIRE in the thymus and beyond. Curr Opin Immunol 2009; 21:582-589.
21. Derbinski J, Schulte A, Kyewski B, Klein L. Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self. Nat Immunol 2001; 2:1032-1039.
22. Kyewski B, Klein L. A central role for central tolerance. Annu Rev Immunol 2006; 24:571-606.
23. Derbinski J. Promiscuous gene expression in thymic epithelial cells is regulated at multiple levels. J Exp Med 2005; 202:33-45.
24. Liston A, Lesage S, Wilson J, et al. Aire regulates negative selection of organ-specific T cells. Nat Immunol 2003; 4:350-354.
25. Liston A, Gray DHD, Lesage S, et al. Gene dosage: limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity. J Exp Med 2004; 200:1015-1026.
26. Anderson MS, Venanzi ES, Chen Z, et al. The cellular mechanism of Aire control of T cell tolerance. Immunity 2005; 23:227-239.
27. Bennett ST, Lucassen AM, Gough SC, et al. Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nat Genet 1995; 9:284-292.
28. Vafiadis P, Bennett ST, Todd JA, et al. Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus. Nat Genet 1997; 15:289-292.
29. Redondo MJ, Eisenbarth GS. Autoimmune polyendocrine syndrome type II. In: Eisenbarth GS, editor. Molecular mechanisms of endocrine and organ specific autoimmunity. Austin, Texas: RG Landes; 1999. pp. 41-61.
30. Schatz DA, Winter WE. Autoimmune polyglandular syndrome. II: Clinical syndrome and treatment. Endocrinol Metab Clin North Am 2002; 31:339-352.
31. Donner H, Braun J, Seidl C, et al. Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. J Clin Endocrinol Metab 1997; 82:4130-4132.
32. Donner H, Rau H, Walfish PG, et al. CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. J Clin Endocrinol Metab 1997; 82:143-146.
33. Ueda H, Howson JMM, Esposito L, et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003; 423:506-511.
34. Blomhoff A. Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease. J Clin Endocrinol Metab 2004; 89:3474-3476.
35. Bottini N, Musumeci L, Alonso A, et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004; 36:337-338.
36. Smyth D, Cooper JD, Collins JE, 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.
37. Skinningsrud B, Husebye ES, Gervin K, et al. Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. Eur J Hum Genet 2008; 16:977-982.
38. Zheng J, Ibrahim S, Petersen F, Yu X. Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localiza ion of the affected tissue. Genes and Immunity 2012; 13:641-652.
39. Vella A, Cooper J, Lowe C, et al. Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. Am J Hum Genet 2005; 76:773-779.
40. Lowe CE, Cooper JD, Brusko T, et al. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet 2007; 39:1074-1082.
41. \+regulatory T cell function. J Immunol 2012; 188:4644-4653.
42. Bratland E, Skinningsrud B, Undlien DE, et al. T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency. J Clin Endocrinol Metab 2009; 94:5117-5124.
43. Vang T, Congia M, Macis MD, et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005; 37:1317-1319.
44. Arechiga AF, Habib T, He Y, et al. Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. J Immunol 2009; 182:3343-3347.
45. Menard L, Saadoun D, Isnardi I, et al. The PTPN22 allele encoding an R620W variant interferes with the removal of developing autoreactive B cells in humans. J Clin Invest 2011; 121:3635-3644.
46. Brand OJ, Lowe CE, Heward JM, et al. Association of the interleukin-2 receptor alpha (IL-2Ralpha)/CD25 gene region with Graves' disease using a multilocus test and tag SNPs. Clin Endocrinol 2007; 66:508-512.
47. Malek TR, Yu A, Vincek V, et al. CD4 regulatory T cells prevent lethal autoimmunity in IL-2Rbeta-deficient mice. Implications for the nonredundant function of IL-2. Immunity 2002; 17:167-178.
48. \+regulatory T cells in the absence of interleukin 2 signaling. Nat Immunol 2005; 6:1152-1159.
49. Fontenot JD, Rasmussen JP, Gavin MA, Rudensky AY. A function for inter-leukin 2 in Foxp3-expressing regulatory T cells. Nat Immunol 2005; 6:1142-1151.
50. Tang Q, Adams JY, Penaranda C, et al. Central role of defective interleukin-2 production in the triggering of islet autoimmune destruction. Immunity 2008; 28:687-697.
51. \+regulatory T cells in autoimmune polyglandular syndrome type II. J Exp Med 2004; 199:1285-1291.
52. Vendrame F, Segni M, Grassetti D, et al. Impaired caspase-3 expression by peripheral T cells in chronic autoimmune thyroiditis and in autoimmune polyendocrine syndrome-2. J Clin Endocrinol Metab 2006; 91:5064-5068.
53. Powell B, Buist N, Stenzel P. An X-linked syndrome of diarrhea, polyendo-crinopathy, and fatal infection in infancy. J Pediatr 1982; 100:731-737.
54. Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR, Ochs HD. Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED. J Clin Immunol 2008; 28 (Suppl 1):S11-S19.
55. 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.
56. Bennett C, 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.
57. 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.
58. Brunkow M, Jeffery E, Hjerrild K, 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.
59. Ochs HD, Gambineri E, Torgerson TR. IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity. Immunol Res 2007; 38:112-121.
60. Caudy AA, Reddy ST, Chatila T, et al. CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allerg Clin Immunol 2007; 119:482-487.
61. Owen CJ, Jennings CE, Imrie H, et al. Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, poly-endocrinopathy, enteropathy syndrome. J Clin Endocrinol Metab 2003; 88:6034-6039.
62. \+and nä?ve T lymphopenia in a non-IPEX form of autoimmune enteropathy combined with an immunodeficiency. Gastroenterology 2007; 132:1694-1704.
63. Uzel G, Sampaio EP, Lawrence MG, et al. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy- enteropathy-X-linked-like syndrome. J Allerg Clin Immunol 2013. [Epub ahead of print].
64. Hori S, Nomura T, Sakaguchi S. Control of regulatory T cell developmentby the transcription factor Foxp3. Science (New York, NY) 2003; 299:1057-1061.
65. \+ T regulatory cells. Nat Immunol 2003; 4:337-342.
66. \+ regulatory T cells. Nat Rev Immunol 2011; 11:119-130.
67. Sakaguchi S, Miyara M, Costantino CM, Hafler DA. FOXP3\+ regulatory T cells in the human immune system. Nat Rev Immunol 2010; 10:490-500.
68. Ziegler SF. FOXP3: ofmice and men. Annu Rev Immunol 2006; 24:209-226.
69. Kinnunen T, Chamberlain N, Morbach H, et al. Accumulation of peripheral autoreactive B cells in the absence of functional human regulatory T cells. Blood 2013; 121:1595-1603.
70. Tang Q. In vitro-expanded antigen-specific regulatory T cells suppress autoimmune diabetes. J Exp Med 2004; 199:1455-1465.
71. Tarbell KV, Petit L, Zuo X, et al. Dendritic cell-expanded, islet-specific CD4\+ CD25\+ CD62L\+ regulatory T cells restore normoglycemia in diabetic NOD mice. J Exp Med 2007; 204:191-201.
72. Marek-Trzonkowska N, Mysliwiec M, Dobyszuk A, et al. Administration of CD4\+CD25highCD127-regulatory T cells preserves b-cell function intype 1 diabetes in children. Diabetes Care 2012; 35:1817-1820.
73. Malchow S, Leventhal DS, Nishi S, et al. Aire-dependent thymic development of tumor-associated regulatory T cells. Science (New York, NY) 2013; 339:1219-1224.