Polyglandular Autoimmune Syndrome Type II

Presse Medicale

Volumn 41, Issue 12 PART2, 2012, Pages

  Kahaly, George J ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBODY; CORTISONE ACETATE; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; ESTRADIOL; GLUTAMATE DECARBOXYLASE 65; HLA ANTIGEN; HYDROCORTISONE; LEVOTHYROXINE; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; PARATHYROID HORMONE; STEROID 17ALPHA MONOOXYGENASE; STEROID 21 MONOOXYGENASE ANTIBODY; TESTOSTERONE; THYROGLOBULIN; THYROID PEROXIDASE; UNCLASSIFIED DRUG;

ADDISON DISEASE; AGE DISTRIBUTION; ANTIBODY DETECTION; AUTOIMMUNE DISEASE; AUTOIMMUNITY; CHROMOSOME 2; CLINICAL FEATURE; CROSS REACTION; CTLA 4 GENE; DISEASE ASSOCIATION; DISEASE MARKER; DNA POLYMORPHISM; ENVIRONMENTAL FACTOR; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE FUNCTION; GENE LOCATION; GENE LOCUS; GENOTYPE ENVIRONMENT INTERACTION; GRAVES DISEASE; HAPLOTYPE; HASHIMOTO DISEASE; HETEROZYGOSITY; HLA GENE; HORMONE DETERMINATION; HORMONE SUBSTITUTION; HUMAN; IMMUNE RESPONSE; INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PATIENT COUNSELING; POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE II; PREDICTIVE VALUE; PREVALENCE; PTPN22 GENE; SHORT SURVEY; T LYMPHOCYTE ACTIVATION;

EID: 84870659277     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.lpm.2012.09.011     Document Type: Short Survey

References (69)

1. Neufeld M., MacLaren N., Blizzard R. Autoimmune polyglandular syndromes. Pediatr Ann 1980, 9:154-162.
2. Betterle C., Greggio N.A., Volpato M. Clinical review 93: autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1998, 83:1049-1055.
3. Eisenbarth G.S., Gottlieb P.A. Autoimmune polyendocrine syndromes. New Engl J Med 2004, 350:2068-2079.
4. Neufeld M., MacLaren N.K., Blizzard R.M. Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine 1981, 60:355-362.
5. Betterle C., Dal Pra C., Mantero F., Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocrinol Rev 2002, 23:327-364.
6. Betterle C., Lazzarotto F., Presotto F. Autoimmune polyglandular syndrome 2: the tip of an iceberg?. Clin Exp Immunol 2004, 137:225-233.
7. Betterle C., Volpato M., Greggio A.N., Presotto F. Type 2 polyglandular autoimmune disease (Schmidt's syndrome). J Pediat Endocrinol Metabol 1996, 9:113-123.
8. Dittmar M., Kahaly G.J. Genetics of autoimmune hypoparathyroidism. Clin Cases Min Bone Metab 2004, 1:113-116.
9. Kahaly G.J., Dittmar M. Polyglandular failure syndromes. Harrison's online updates. Disorders affecting multiple endocrine systems 2004, McGraw-Hill, chapter 330. L. Jamieson (Ed.).
10. Kahaly G.J., Dittmar M. Autoimmune polyglandular syndrome type 2. Autoimmune diseases in endocrinology 2007, 377-391. Humana Press, Totowa, NJ. A.P. Weetman (Ed.).
11. Ten S., New M., MacLaren N. Clinical review 130: Addison's disease 2001. J Clin Endocrinol Metab 2000, 86:2909-2922.
12. Meyerson J., Lechuga-Gomez E.E., Bigazzi P.E., Walfish P.G. Polyglandular autoimmune syndrome: current concepts. Canad Med Assoc J 1988, 138:605-612.
13. Dittmar M., Kahaly G.J. Polyglandular autoimmune syndromes - immunogenetics and long-term follow-up. J Clin Endocrinol Metabl 2003, 88:2983-2992.
14. Chen S., Sawicka J., Betterle C., Powell M., Prentice L., Volpato M., et al. Autoantibodies to steroidogenic enzymes in autoimmune polyglandular syndrome. Addison's disease, and premature ovarian failure. J Clin Endocrinol Metab 1996, 81:1871-1876.
15. Hrdá P., Sterzl I., Matucha P., Korioth F., Kromminga A. HLA antigen expression in autoimmune endocrinopathies. Physiol Res 2004, 53:191-197.
16. Huang W., Connor E., Rosa T.D., Muir A., Schatz D., Silverstein J., et al. Although DR3-DQB1*0201 may be associated with multiple component diseases of the autoimmune polyglandular syndromes, the human leukocyte antigen DR4-DQB1*0302 haplotype is implicated only in betacell autoimmunity. J Clin Endocrinol Metab 1996, 81:2559-2563.
17. Maclaren N.K., Riley W.J. Inherited susceptibility to autoimmune Addison's disease is linked to human leukocyte antigens-DR3 and/or DR4, except when associated with type I autoimmune polyglandular syndrome. J Clin Endocrinol Metab 1986, 62:455-459.
18. Robles D.T., Fain P.R., Gottlieb P.A., Eisenbarth G.S. The genetics of autoimmune polyendocrine syndrome type II. Endocrinol Metab Clin North Am 2002, 31:353-368.
19. Tisch R., McDevitt H. Insulin-dependent diabetes mellitus. Cell 1996, 85:291-297.
20. Sanjeevi C.B., Lybrand T.P., DeWeese C., Landin-Olsson M., Kockum I., Dahlquist G., et al. Polymorphic amino acid variations in HLA-DQ are associated with systematic physical property changes and occurrence of IDDM, Members of the Swedish Childhood Diabetes Study. Diabetes 1995, 44:125-131.
21. Petrone A., Giorgi G., Mesturino C.A., Capizzi M., Cascino I., Nistico L., et al. Association of DRB1*04-DQB1*0301 haplotype and lack of association of two polymorphic sites at CTLA-4 gene with Hashimoto's thyroiditis in an Italian population. Thyroid 2001, 11:171-175.
22. Donner H., Rau H., Walfish P.G., Braun J., Siegmund T., Finke R., et al. CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. J Clin Endocrinol Metabol 1997, 82:143-146.
23. Yanagawa T., Hidaka Y., Guimaraes V., Soliman M., DeGroot L.J. CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population. J Clinical Endocrinol Metabol 1995, 80:41-45.
24. Yanagawa T., Taniyama M., Enomoto S., Gomi K., Maruyama H., Ban Y., et al. CTLA4 gene polymorphism confers susceptibility to Graves' disease in Japanese. Thyroid 1997, 7:843-846.
25. Heward J.M., Brand O.J., Barrett J.C., Carr-Smith J.D., Franklyn J.A., Gough S.C. Association of PTPN22 haplotypes with Graves' disease. J Clinl Endocrinol Metabol 2007, 92:685-690.
26. Kouki T., Gardine C.A., Yanagawa T., Degroot L.J. Relation of three polymorphisms of the CTLA-4 gene in patients with Graves' disease. J Endocrinol Invest 2002, 25:208-213.
27. Bednarczuk T., Hiromatsu Y., Fukutani T., Jazdzewski K., Miskiewicz P., Osikowska M., et al. Association of cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene polymorphism and non-genetic factors with Graves' ophthalmopathy in European and Japanese populations. Eur J Endocrinol / Eur Fed Endocrinol Soc 2003, 148:13-18.
28. Donner H., Braun J., Seidl C., Rau H., Finke R., Ventz M., 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.
29. Heward J.M., Allahabadia A., Armitage M., Hattersley A., Dodson P.M., Macleod K., et al. The development of Graves' disease and the CTLA-4 gene on chromosome 2q33. J Clin Endocrinol Metab 1999, 84:2398-2401.
30. Chikuba N., Akazawa S., Yamaguchi Y., Kawasaki E., Takino H., Yoshimoto M., et al. Immunogenetic heterogeneity in type 1 (insulin-dependent) diabetes among Japanese--class II antigen and autoimmune thyroid disease. Diabetes Res Clin Pract 1995, 27:31-37.
31. Chuang L.M., Wu H.P., Chang C.C., Tsai W.Y., Chang H.M., Tai T.Y., et al. HLA DRB1/DQA1/DQB1 haplotype determines thyroid autoimmunity in patients with insulin-dependent diabetes mellitus. Clin Endocrinol 1996, 45:631-636.
32. Kim E.Y., Shin C.H., Yang S.W. Polymorphisms of HLA class II predispose children and adolescents with type 1 diabetes mellitus to autoimmune thyroid disease. Autoimmunity 2003, 36:177-181.
33. Levin L., Ban Y., Concepcion E., Davies T.F., Greenberg D.A., Tomer Y. Analysis of HLA genes in families with autoimmune diabetes and thyroiditis. Human Immunol 2004, 65:640-647.
34. Golden B., Levin L., Ban Y., Concepcion E., Greenberg D.A., Tomer Y. Genetic analysis of families with autoimmune diabetes and thyroiditis: evidence for common and unique genes. J Clin Endocrinol Metab 2005, 90:4904-4911.
35. Hashimoto K., Maruyama H., Nishiyama M., Asaba K., Ikeda Y., Takao T., et al. Susceptibility alleles and haplotypes of human leukocyte antigen DRB1, DQA1, and DQB1 in autoimmune polyglandular syndrome type III in Japanese population. Horm Res 2005, 64:253-260.
36. Holl R.W., Bohm B., Loos U., Grabert M., Heinze E., Homoki J. Thyroid autoimmunity in children and adolescents with type 1 diabetes mellitus. Effect of age, gender and HLA type. Horm Res 1999, 52:113-118.
37. Dittmar M., Ide M., Wurm M., Kahaly G.J. Early onset of polyglandular failure is associated with HLA-DRB1*03. Eur J Endocrinol / Eur Fed Endocrinol Soc 2008, 159:55-60.
38. Faas S., Trucco M. The genes influencing the susceptibility to IDDM in humans. J Endocrinol Invest 1994, 17:477-495.
39. Ueda H., Howson J.M., Esposito L., Heward J., Snook H., Chamberlain G., et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003, 423:506-511.
40. Takara M., Kouki T., DeGroot L.J. CTLA-4 AT-repeat polymorphism reduces the inhibitory function of CTLA-4 in Graves' disease. Thyroid 2003, 13:1083-1089.
41. Wang X.B., Kakoulidou M., Giscombe R., Qiu Q., Huang D., Pirskanen R., et al. Abnormal expression of CTLA-4 by T-cells from patients with myasthenia gravis: effect of an AT-rich gene sequence. J Neuroimmunol 2002, 130:224-232.
42. Teft W.A., Kirchhof M.G., Madrenas J. A molecular perspective of CTLA-4 function. Ann Rev Immunol 2006, 24:65-97.
43. Brunner M.C., Chambers C.A., Chan F.K., Hanke J., Winoto A., Allison J.P. CTLA-4-Mediated inhibition of early events of T cell proliferation. J Immunol 1999, 162:5813-5820.
44. Jacobson E.M., Tomer Y. The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the future. J Autoimmun 2007, 28:85-98.
45. Kavvoura F.K., Akamizu T., Awata T., Ban Y., Chistiakov D.A., Frydecka I., et al. Cytotoxic T-lymphocyte associated antigen 4 gene polymorphisms and autoimmune thyroid disease: a meta-analysis. J Clin Endocrinol Metabol 2007, 92:3162-3170.
46. Ban Y., Taniyama M., Tozaki T., Yanagawa T., Yamada S., Maruyama T., et al. No association of type 1 diabetes with a microsatellite marker for CTLA-4 in a Japanese population. Autoimmunity 2001, 34:39-43.
47. Cinek O., Drevinek P., Sumnik Z., Bendlova B., Kolouskova S., Snajderova M., et al. The CTLA4 +49 A/G dimorphism is not associated with type 1 diabetes in Czech children. Eur J Immunogen 2002, 29:219-222.
48. Cohen S., Dadi H., Shaoul E., Sharfe N., Roifman C.M. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. Blood 1999, 93:2013-2024.
49. Bottini N., Musumeci L., Alonso A., Rahmouni S., Nika K., Rostamkhani M., et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Gen 2004, 36:337-338.
50. Smyth D., Cooper J.D., Collins J.E., Heward J.M., Franklyn J.A., Howson J.M., 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.
51. Kawasaki E., Awata T., Ikegami H., Kobayashi T., Maruyama T., Nakanishi K., et al. Japanese Study Group on Type 1 Diabetes Genetics. Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. Am J Med Gen 2006, 140A:586-593.
52. Dittmar M., Kahaly G.J. Immunoregulatory and susceptibility genes in thyroid and polyglandular autoimmunity. Thyroid 2005, 15:239-250.
53. Cloutier J.F., Veillette A. Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med 1999, 189:111-121.
54. Vang T., Miletic A.V., Bottini N., Mustelin T. Protein tyrosine phosphatase PTPN22 in human autoimmunity. Autoimmunity 2007, 40:453-461.
55. Bottini N., Vang T., Cucca F., Mustelin T. Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Sem Immunol 2006, 18:207-213.
56. Kahles H., Ramos-Lopez E., Lange B., Zwermann O., Reincke M., Badenhoop K. Sex-specific association of PTPN22 1858T with type 1 diabetes but not with Hashimoto's thyroiditis or Addison's disease in the German population. Eur J Endocrinol / Eur Fed Endocrinol Soc 2005, 153:895-899.
57. Velaga M.R., Wilson V., Jennings C.E., Owen C.J., Herington S., Donaldson P.T., et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metabol 2004, 89:5862-5865.
58. Rose N.R. Pathogenic mechanisms in autoimmune diseases. Clin Immunol Immunopathol 1989, 53:7-13.
59. Sakaguschi S. Regulatory T-cells: key controllers of immunologic self-tolerance. Cell 2000, 101:455-458.
60. Kriegel M.A., Lohmann T., Gabler C. Defective suppressor function of human CD4+ CD25+ regulatory T cells in autoimmune polyglandular syndrome type II. J Exp Med 2004, 199:1285-1291.
61. Haspel M.V. Virus-induced autoimmunity: monoclonal antibodies that react with endocrine tissues. Science 1983, 220:304.
62. Onodera T. Virus-induced diabetes mellitus. Polyendocrinopathy and autoimmunity. J Exp Med 1981, 153:1457.
63. Sakaguchi S. Organ-specific autoimmune disease induced in mice by elimination of T cell subsets. Neonatal administration of cyclosporin causes autoimmune disease. J Immunol 1989, 42:471-475.
64. Kahaly G.J. Polyglandular autoimmune syndromes. Eur J Endocrinol / Eur Fed Endocrinol Soc 2009, 161:11-20.
65. Storz S.M., Wylenzek S.A., Matheis N., Weber M.M., Kahaly G.J. Impaired psychometric testing in polyglandular autoimmunity. Clin Endocrinol 2011, 74:394-403.
66. Dittmar M., Libich C., Brenzel T., Kahaly G.J. Increased familial clustering of autoimmune thyroid diseases. Horm Metab Res 2011, 43:200-204.
67. Dittmar M., Kahaly G.J. Genetics of the autoimmune polyglandular syndrome type 3 variant. Thyroid 2010, 20:737-743.
68. Weinstock C., Matheis N., Barkia S., Haager M.C., Janson A., Marković A., et al. Autoimmune polyglandular syndrome type 2 shows the same HLA class II pattern as type 1 diabetes. Tissue Antigens 2011, 77:317-324.
69. Gianani R., Sarvetnick N. Viruses, cytokines, antigens, and autoimmunity. Proc Natl Acad Sci U S A 1996, 93:2257-2259.