Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2)

Journal of Internal Medicine

Volumn 265, Issue 5, 2009, Pages 530-540

  Michels, Aaron W ^a,c   Eisenbarth, G S ^b  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF COLORADO   (United States)

^c UNIVERSITY OF COLORADO   (United States)

Author keywords

Autoantibodies; Autoimmune disease; Autoimmunity; Immunology; Pathogenesis; Type 1 diabetes mellitus

Indexed keywords

AUTOANTIBODY; HLA ANTIGEN;

ALLELE; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE 2; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOIMMUNITY; CONFERENCE PAPER; ENZYME ASSAY; GENETIC SUSCEPTIBILITY; HLA SYSTEM; HUMAN; IMMUNOGENETICS; IMMUNOLOGICAL TOLERANCE; IMMUNOPATHOGENESIS; IMMUNOPROPHYLAXIS; INSULIN DEPENDENT DIABETES MELLITUS; MORBIDITY; MORTALITY; MULTIPLE ENDOCRINE ADENOMATOSIS; NONHUMAN; PRIORITY JOURNAL;

ADRENAL INSUFFICIENCY; ANIMALS; AUTOANTIBODIES; AUTOIMMUNITY; GENETIC PREDISPOSITION TO DISEASE; HISTOCOMPATIBILITY ANTIGENS CLASS II; HUMANS; MODELS, IMMUNOLOGICAL; MUTATION; POLYENDOCRINOPATHIES, AUTOIMMUNE; SELF TOLERANCE; SYNDROME; TRANSCRIPTION FACTORS;

EID: 64249105842     PISSN: 09546820     EISSN: 13652796     Source Type: Journal    
DOI: 10.1111/j.1365-2796.2009.02091.x     Document Type: Conference Paper

References (75)

1. Oegle J. On disease of the brain as a result of diabetes mellitus. St George's Hosp Rep 1866 1 : 157 88.
2. Schmidt M. Eine biglandulare Erkrankung (Nebennieren und Schildruse) bei Morbus Addisonii. Verh Dtsch Ges Pathol 1926 21 : 212 21.
3. Bottazzo GF, Florin-Christensen A, Doniach D. Islet-cell antibodies in diabetes mellitus with autoimmune polyendocrine deficiencies. Lancet 1974 2 : 1279 83.
4. Neufeld M, Maclaren NK, Blizzard RM. Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine (Baltimore) 1981 60 : 355 62.
5. Eisenbarth G, Wilson P, Ward F et al. HLA type and occurrence of disease in familial polyglandular failure. N Engl J Med 1978 298 : 92 4.
6. Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 1997 17 : 399 403.
7. 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 401.
8. Kumar PG, Laloraya M, She JX. Population genetics and functions of the autoimmune regulator (AIRE). Endocrinol Metab Clin North Am 2002 31 : 321 38, vi.
9. Pearce SH, Cheetham T, Imrie H et al. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Am J Hum Genet 1998 63 : 1675 84.
10. Scott HS, Heino M, Peterson P et al. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Mol Endocrinol 1998 12 : 1112 9.
11. Barker JM, Eisenbarth GS. Autoimmune polyendocrine syndromes. In : Eisenbarth GS, ed. Type 1 Diabetes: Molecular, Cellular, and Clinical Immunology. Denver : Barbara Davis Center for Chilhood Diabetes, 2003. Available at: http://www.barbaradaviscenter.org/ (accessed on 27 February 2009) [Online edition version 3.0].
12. Friedman TC, Thomas PM, Fleisher TA et al. Frequent occurrence of asplenism and cholelithiasis in patients with autoimmune polyglandular disease type I. Am J Med 1991 91 : 625 30.
13. Meager A, Visvalingam K, Peterson P et al. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Med 2006 3 : e289.
14. Su MA, Giang K, Zumer K et al. Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire. J Clin Invest 2008 118 : 1712 26.
15. Eisenbarth GS, Wilson PW, Ward F et al. The polyglandular failure syndrome: disease inheritance, HLA type, and immune function. Ann Intern Med 1979 91 : 528 33.
16. Devendra D, Liu E, Eisenbarth GS. Type 1 diabetes: recent developments. BMJ 2004 328 : 750 4.
17. Eisenbarth GS. Type I diabetes mellitus. A chronic autoimmune disease. N Engl J Med 1986 314 : 1360 8.
18. Eisenbarth GS. In : Eisenbarth GS, ed. Prediction of Type 1A Diabetes: The Natural History of the Prediabetic Period. Denver : Barbara Davis Center for Childhood Diabetes, 2006. Available at: http://www.barbaradaviscenter.org/ (accessed on 27 February 2009) [Online edition version 3.0].
19. Eisenbarth GS. Autoimmune beta cell insufficiency - diabetes mellitus type 1. Triangle 1984 23 : 111 24.
20. Wenzlau JM, Juhl K, Yu L et al. The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes. Proc Natl Acad Sci USA 2007 104 : 17040 5.
21. Di Lorenzo TP, Peakman M, Roep BO. Translational mini-review series on type 1 diabetes: Systematic analysis of T cell epitopes in autoimmune diabetes. Clin Exp Immunol 2007 148 : 1 16.
22. DiLorenzo TP, Serreze DV. The good turned ugly: immunopathogenic basis for diabetogenic CD8 + T cells in NOD mice. Immunol Rev 2005 204 : 250 63.
23. Lieberman SM, DiLorenzo TP. A comprehensive guide to antibody and T-cell responses in type 1 diabetes. Tissue Antigens 2003 62 : 359 77.
24. Klein J, Sato A. The HLA system. First of two parts. N Engl J Med 2000 343 : 702 9.
25. Kwon OJ, Brautbar C, Weintrob N et al. Immunogenetics of HLA class II in Israeli Ashkenazi Jewish, Israeli non-Ashkenazi Jewish, and in Israeli Arab IDDM patients. Hum Immunol 2001 62 : 85 91.
26. Undlien DE, Lie BA, Thorsby E. HLA complex genes in type 1 diabetes and other autoimmune diseases. Which genes are involved?. Trends Genet 2001 17 : 93 100.
27. Lie BA, Ronningen KS, Akselsen HE et al. Application and interpretation of transmission/disequilibrium tests: transmission of HLA-DQ haplotypes to unaffected siblings in 526 families with type 1 diabetes. Am J Hum Genet 2000 66 : 740 3.
28. Eisenbarth GS. Pathogenesis of Type 1A Diabetes. S. Dartmouth, MA : MDText.com, Inc., 2007. Available at: http://www.endotext.org (accessed on 27 February 2009).
29. Todd JA, Walker NM, Cooper JD et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007 39 : 857 64.
30. Pugliese A, Zeller M, Fernandez A et al. The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. Nat Genet 1997 15 : 293 7.
31. Pugliese A, Brown D, Garza D et al. Self-antigen-presenting cells expressing diabetes-associated autoantigens exist in both thymus and peripheral lymphoid organs. J Clin Invest 2001 107 : 555 64.
32. Vang T, Congia M, Macis MD et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005 37 : 1317 9.
33. Betterle C, Volpato M, Rees Smith B et al. II. Adrenal cortex and steroid 21-hydroxylase autoantibodies in children with organ-specific autoimmune diseases: markers of high progression to clinical Addison's disease. J Clin Endocrinol Metab 1997 82 : 939 42.
34. Winqvist O, Karlsson FA, Kämpe O. 21-hydroxylase, a major autoantigen in idiopathic Addision's disease. Lancet 1992 339 : 1559 62.
35. Yu L, Brewer KW, Gates S et al. DRB1*04 and DQ alleles: expression of 21-hydroxylase autoantibodies and risk of progression to Addison's disease. J Clin Endocrinol Metab 1999 84 : 328 35.
36. Robles DT, Fain PR, Gottlieb PA et al. The genetics of autoimmune polyendocrine syndrome type II. Endocrinol Metab Clin North Am 2002 31 : 353 68, vi-vii.
37. Erlich H, Valdes AM, Noble J et al. HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: analysis of the type 1 diabetes genetics consortium families. Diabetes 2008 57 : 1084 92.
38. Ramsey C, Wingvist 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.
39. Meyer G, Donner H, Herwig J et al. Screening for an AIRE-1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome. Clin Endocrinol (Oxf) 2001 54 : 335 8.
40. Sakaguchi N, Miyai K, Sakaguchi S. Ionizing radiation and autoimmunity. Induction of autoimmune disease in mice by high dose fractionated total lymphoid irradiation and its prevention by inoculating normal T cells. J Immunol 1994 152 : 2586 95.
41. Liu E, Yu L, Moriyama H et al. Animal models of insulin-dependent diabetes. Methods Mol Med 2004 102 : 195 212.
42. Moriyama H, Wen L, Abiru N et al. Induction and acceleration of insulitis/diabetes in mice with a viral mimic (polyinosinic-polycytidylic acid) and an insulin self-peptide. Proc Natl Acad Sci USA 2002 99 : 5539 44.
43. Amrani A, Verdaquer J, Serra P et al. Progression of autoimmune diabetes driven by avidity maturation of a T-cell population. Nature 2000 406 : 739 42.
44. Hutton JC, Eisenbarth GS. A pancreatic beta-cell-specific homolog of glucose-6-phosphatase emerges as a major target of cell-mediated autoimmunity in diabetes. Proc Natl Acad Sci USA 2003 100 : 8626 8.
45. Lieberman SM, Evans AM, Han B et al. Identification of the beta cell antigen targeted by a prevalent population of pathogenic CD8 + T cells in autoimmune diabetes. Proc Natl Acad Sci USA 2003 100 : 8384 8.
46. Martin AM, Maxson MN, Leif J et al. Diabetes-prone and diabetes-resistant BB rats share a common major diabetes susceptibility locus, iddm4: additional evidence for a "universal autoimmunity locus" on rat chromosome 4. Diabetes 1999 48 : 2138 44.
47. Hornum L, Romer J, Markholst H. The diabetes-prone BB rat carries a frameshift mutation in Ian4, a positional candidate of Iddm1. Diabetes 2002 51 : 1972 9.
48. MacMurray AJ, Moralejo DH, Kwitek AE et al. Lymphopenia in the BB rat model of type 1 diabetes is due to a mutation in a novel immune-associated nucleotide (Ian)-related gene. Genome Res 2002 12 : 1029 39.
49. Awata T, Guberski DL, Like AA. Genetics of the BB rat: association of autoimmune disorders (diabetes, insulitis, and thyroiditis) with lymphopenia and major histocompatibility complex class II. Endocrinology 1995 136 : 5731 5.
50. Zipris D, Lien E, Xie JX et al. TLR activation synergizes with Kilham rat virus infection to induce diabetes in BBDR rats. J Immunol 2005 174 : 131 42.
51. Vendrame F et al. Impaired caspase-3 expression by peripheral T cells in chronic autoimmune thyroiditis, in autoimmune polyendocrine syndrome-2. J Clin Endocrinol Metab 2006 91 : 5064 8.
52. Green DR, Droin N. Pinkoski M. Activation-induced cell death in T cells. Rev Immunol 2003 193 : 70 81.
53. Hildeman DA, Zhu Y, Mitchell TC et al. Molecular mechanisms of activated T cell death in vivo. Curr Opin Immunol 2002 14 : 354 9.
54. Krueger A, Fas SC, Baumann S et al. The role of CD95 in the regulation of peripheral T-cell apoptosis. Immunol Rev 2003 193 : 58 69.
55. Vendrame F, Santangelo C, Misasi R et al. Defective lymphocyte caspase-3 expression in type 1 diabetes mellitus. Eur J Endocrinol 2005 152 : 119 25.
56. Kriegel MA, Lohmann T, Gabler C et al. Defective suppressor function of human CD4+ CD25+ regulatory T cells in autoimmune polyglandular syndrome type II. J Exp Med 2004 199 : 1285 91.
57. Roep BO, Atkinson MA, van Endert PM et al. Autoreactive T cell responses in insulin-dependent (Type 1) diabetes mellitus. Report of the first international workshop for standardization of T cell assays. J Autoimmun 1999 13 : 267 82.
58. Falorni A, Laureti S, Santeusanio F. Autoantibodies in autoimmune polyendocrine syndrome type II. Endocrinol Metab Clin North Am 2002 31 : 369 89, vii.
59. Kawasaki E, Eisenbarth GS. High-throughput radioassays for autoantibodies to recombinant autoantigens. Front Biosci 2000 5 : E181 90.
60. Yu L, Eisenbarth GS. In : Eisenbarth GS, ed. Humoral Autoimmunity, in Type 1 Diabetes: Mollecular, Cellular, and Clinical Immunology. Denver : Barbara Davis Center for Childhood Diabetes, 2002. Available at: http://www. barbaradaviscenter.org/ (accessed on 27 February 2009) [Online edition version 3.0].
61. Falorni A, Nikoshkov A, Laureti S et al. High diagnostic accuracy for idiopathic Addison's disease with a sensitive radiobinding assay for autoantibodies against recombinant human 21-hydroxylase. J Clin Endocrinol Metab 1995 80 : 2752 5.
62. Chen S, Sawicka J, Betterle C et al. Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome, Addison's disease, and premature ovarian failure. J Clin Endocrinol Metab 1996 81 : 1871 6.
63. de Carmo Silva R, Kater CE, Dib SA et al. Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17alpha-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III. Eur J Endocrinol 2000 142 : 187 94.
64. Zhang L, Barker JM, Babu S et al. A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1. Clin Immunol 2007 125 : 131 7.
65. Alimohammadi M, Bjorklund P, Hallgren A et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 2008 358 : 1018 28.
66. Perheentupa J. APS-I/APECED: the clinical disease and therapy. Endocrinol Metab Clin North Am 2002 31 : 295 320, vi.
67. Betterle C, Volpato M, Rees Smith B et al. I. Adrenal cortex and steroid 21-hydroxylase autoantibodies in adult patients with organ-specific autoimmune diseases: markers of low progression to clinical Addison's disease. J Clin Endocrinol Metab 1997 82 : 932 8.
68. Betterle C, Spadaccino AC, Presotto F et al. The number of markers of pancreatic autoimmunity is proportional to the risk for type 1 diabetes mellitus in Italian and English patients with organ-specific autoimmune diseases. Ann N Y Acad Sci 2002 958 : 276 80.
69. Hoffenberg EJ, MacKenzie T, Barriga KJ et al. A prospective study of the incidence of childhood celiac disease. J Pediatr 2003 143 : 308 14.
70. Liu E, Li M, Emery L et al. Natural history of antibodies to deamidated gliadin peptides and transglutaminase in early childhood celiac disease. J Pediatr Gastroenterol Nutr 2007 45 : 293 300.
71. Corazza GR, Di Sario A, Cecchetti L et al. Influence of pattern of clinical presentation and of gluten-free diet on bone mass and metabolism in adult coeliac disease. Bone 1996 18 : 525 30.
72. Kannan CR. Diseases of the adrenal cortex. Dis Mon 1988 34 : 601 74.
73. Herold KC, Hagopian W, Auger JA et al. Anti-CD3 monoclonal antibody in new-onset type 1 diabetes mellitus. N Engl J Med 2002 346 : 1692 8.
74. Winter WE, Schatz D. Prevention strategies for type 1 diabetes mellitus: current status and future directions. BioDrugs 2003 17 : 39 64.
75. Skyler JS. Effects of insulin in relatives of patients with type 1 diabetes mellitus. N Engl J Med 2002 346 : 1685 91.