Skip to main content

The Polyglandular Autoimmune Syndromes

  • Chapter
  • 162 Accesses

Part of the book series: Contemporary Endocrinology ((COE,volume 15))

Abstract

The polyglandular autoimmune syndromes are a rare constellation of autoimmune disorders characterized by more than one endocrine gland failure occurring in individuals and their families. In addition to endocrine glands, other nonendocrine organs may be targeted by the immune system, resulting in hypofunction as well as hyperfunction of the affected organs.

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Muir A, Schatz DA, Maclaren NK. Polyglandular failure syndromes. In: DeGroot LJ, Besser M, Burger HG, Jameson JL, eds. Endocrinology. W.B. Saunders, Philadelphia, 1995, pp. 3013–3024.

    Google Scholar 

  2. Garg SK, Kligensmith GJ, Eisenbarth GS. Autoimmune polyendocrine syndromes. In: Eisenbarth GS, Lafferty KG, eds. Type 1 Diabetes Mellitus: Molecular, Cellular, and Clinical Immunology. Oxford University Press, Oxford, 1996, pp. 153–171.

    Google Scholar 

  3. Brosman P, Riley WJ. Autoimmune polyglandular syndromes. In: Sperling MA, ed. Pediatric Endocrinology. W.B. Saunders, Phiadelphia, 1996, pp. 509–522.

    Google Scholar 

  4. Verge CF, Eisenbarth GS. Immunoendocrinopathy syndromes. In: Wilson JD, Foster DW, eds. Williams Textbook of Endocrinology, 9th ed. W. B. Saunders, Philadelphia, 1997, pp. 1651–1662.

    Google Scholar 

  5. Neufeld M, Maclaren NK, Blizzard RM. Two types of autoimmune Addison’s disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine 1981;60:355–362.

    Article  PubMed  CAS  Google Scholar 

  6. Ahonen P, Myllarniemi S, Sipila I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 1990;322: 1829–1836.

    Article  PubMed  CAS  Google Scholar 

  7. Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Horm Metab Res 1996;28:353–356.

    Article  PubMed  CAS  Google Scholar 

  8. Aaltonen J, Bjorses P, Sandkuijl L, Perheentupa J, Peltonen L. An autosomal locus causing autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet 1994;8:83–87.

    Article  PubMed  CAS  Google Scholar 

  9. Nagamine K, Peterson P, Scott H, et al. Positional cloning of the APECED gene. Nat Genet 1997;17: 393–398.

    Article  PubMed  CAS  Google Scholar 

  10. The 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.

    Article  Google Scholar 

  11. Theofilopoulos AN. The basis of autoimmunity: part I: Mechanisms of aberrant self-recognition. Immunol Today 1995;16:90–98.

    Article  PubMed  CAS  Google Scholar 

  12. Theofilopoulos AN. The basis of autoimmunity: part II: Genetic predisposition. Immunol Today 1995; 16:150–159.

    Article  PubMed  CAS  Google Scholar 

  13. Zlotogora J, Shapiro MS. Polyglandular autoimmune syndrome type I among Iranian jews. J Med Genet 1992;29:824–826.

    Article  PubMed  CAS  Google Scholar 

  14. Belvisi L, Bombelli F, Sironi L, Doldi N. Organ specific autoimmunity in patients with premature ovarian failure. J Endocrinol Invest 1993;16:889–892.

    PubMed  CAS  Google Scholar 

  15. Ahonen P, Koskimies M, Lokki M-L, Tilikainen A, Perheentupa J. The expression of autoimmune polyglandular disease type I appears associated with several HLA-A antigens but not with HLA-DR. J Clin Endocrinol Metab 1988;66:1152–1157.

    Article  PubMed  CAS  Google Scholar 

  16. Bjorses P, Aaltonen J, Vikman A, et al. Genetic homogeneity of autoimmune polyglanddular disease type I. Am J Med Genet 1996;879–886.

    Google Scholar 

  17. Como JA, Dismukes WE. Oral azole drugs as systemic antifungal therapy. N Engl J Med 1994;330: 263–272.

    Article  PubMed  CAS  Google Scholar 

  18. Ahonen P, Myllarniemi S, Kahanpaa A, et al. Ketoconazole is effective against the chronic mucocutaneous candidiasis of the autoimmune polyendocrinopahy-candidiasis-ectodermal dystrophy (APECED). Acta Med Scand 1986;220:333–339.

    Article  PubMed  CAS  Google Scholar 

  19. Schmidt MB. Eine biglandulare erkrankung (nebennieren und schilddrusse) bei morbus Addisonii. Verh Dtsch Ges Pathol Ges 1926;21:212–221.

    Google Scholar 

  20. Carpenter CCJ, Solomon N, Silverberg SG, et al. Schmidt’s syndrome (thyroid and adrenal insufficiency): a review of the litterature and a report of fifteen new cases inckuding 10 instances of coexistent diabetes mellitus. Medicine 1964;43:153–180.

    PubMed  CAS  Google Scholar 

  21. Roitt IM, Doniach D, Campbell PN, et al. Autoantibodies in Hashimoto’ s disease (lymphadenoid goitre). Lancet 1956;2:820–821.

    Article  Google Scholar 

  22. Turkington RW, Lebowitz HE. Extra-adrenal endocrine deficiencies in Addison’s disease. Am J Med 1967;43:499–507.

    Article  PubMed  CAS  Google Scholar 

  23. Zelissen PM, Bast EJEG, Croughs RJM. Associated autoimmunity in Addison’s disease. J Autoimmunity 1995;8:121–130.

    Article  CAS  Google Scholar 

  24. Dumas P, Archambeaud-Mouveroux F, Vallat JM. Myasthenia gravis associated with adrenocortical insufficiency. Report of two cases. J Neurol 1985;232:354–356.

    Article  PubMed  CAS  Google Scholar 

  25. Okada T, Kawamura T, Tamura T, et al. Myasthenia gravis associated with Addison’s disease. Intern Med 1994;33:686–688.

    Article  PubMed  CAS  Google Scholar 

  26. Hooft C, Roels H, Devos E. Diabetes and coeliac disease. Lancet 1969;ii:1192.

    Google Scholar 

  27. Peserico A, Rigon F, Semsenzato G, et al. Vitiligo and polyglandular autoimmune disease with autoantibodies to melanin-producing cells. A new syndrome? Arch Dermatol 1981;117:751–752.

    Article  PubMed  CAS  Google Scholar 

  28. Tucker WS, Niblack GD, McLean RH, Alspaugh MA, Wyatt RJ, Jordan SC, et al. Serositis with autoimmune endocrinopathy: clinical and immunogenetic features. Medicine 1987;66:138–147.

    Article  PubMed  Google Scholar 

  29. Irvine WJ, Davies SH, Delamore IW, et al. Immunological relationship between pernicious anemia and thyroid disease. Br Med J 1962;5302:454–456.

    Article  Google Scholar 

  30. Verge CF, Howard NJ, Rowley MJ, et al. Anti-glutamate decarboxylase and other antibodies at the onset of childhood IDDM: a population-based study. Diabetologia 1994;37:1113–1120.

    Article  PubMed  CAS  Google Scholar 

  31. Savilahti E, Simell O, Koskimies K, et al. Celiac disease in inslulin-dependent diabetes mellitus. J Pediatr 1986;108:690–693.

    Article  PubMed  CAS  Google Scholar 

  32. Barera G, Bianchi C, Calisti L, et al. Screening of diabetic children for coeliac disease with antigliadin antibodies and HLA typing. Arch Dis Child 1991;66:491–494.

    Article  PubMed  CAS  Google Scholar 

  33. Ferreira M, Davies SL, Buttler M, et al. Endomysial antibody: is it the best screening test for coeliac disease? Gut 1992;33:1633–1637.

    Article  PubMed  CAS  Google Scholar 

  34. Mora S, Weber G, Barera G, et al. Effect of a gluten-free diet on bone mineral content in growing patients with coeliac disease. Am J Clin Nutr 1993;57:224–228.

    PubMed  CAS  Google Scholar 

  35. Holmes GKT, Prior P, Lane MR, et al. Malignancy in coeliac disease-effect of a gluten-free diet. Gut 1989;30:333–338.

    Article  PubMed  CAS  Google Scholar 

  36. Posillico JT, Worstman J, Srikanta S, et al. Parathyroid cell surface autoantibodies that inhibit parathyroid hormone secretion from dispersed human parathyroid cells. Bone Miner Res 1986;5:475–485.

    Google Scholar 

  37. Eisenbarth GS, Wilson P, Ward F, et al. HLA type and disease occurence in familial polyglandular failure. N Engl J Med 1978;298:92–94.

    Article  PubMed  CAS  Google Scholar 

  38. Partanen J, Peterson P, Westman P, et al. Major Histocompatibilty Complex Class I and II in Addison’s disease. Hum Immunol 1994;41:135–140.

    Article  PubMed  CAS  Google Scholar 

  39. Badenhoop K, Walfish PG, Rau H, et al. Susceptibility and resistance alleles of human lucocyte antigen (HLA) DQA1 and HLA DQB1 are shared in autoimmune disease. J Clin Endocrinol Metab 1995; 80:2112–2117.

    Article  PubMed  CAS  Google Scholar 

  40. Maclaren NK, Riley WJ. Inherited susceptibility to autoimmune Addison’s disease is linked to human leucocyte antigens DR3 and/or DR4 except whe associated with type I autoimmune polyglandular syndrome. J Clin Endocrinol Metab 1986;62:455–459.

    Article  PubMed  CAS  Google Scholar 

  41. Yu L, Brewer K, Gates S, et al. Immunogenetic determinants of Addison’s disease among patients with 21-hydroxylase autoantiodies. J Clin Endocrinol Metab 1999Jan;84(1):328–335.

    Google Scholar 

  42. Faas S, Trucco M. Major Histocompatibility Locus and other genes that determine the risk of development of insulin-dependent diabetes mellitus. In: Leroith D, Taylor SI, Olefsky JM, eds. Diabetes Mellitus. Lippincott-Raven, Philadelphia, 1996, pp. 326–333.

    Google Scholar 

  43. Fisfalen M-E, DeGroot LJ. Graves’ disease and autoimmune thyroiditis. In: Weintraub B, ed. Molecular Endocrinology. Raven Press, New York, 1995, pp. 319–370.

    Google Scholar 

  44. Volonakis JE, Zhu Z, Schaffer FM, et al. Major Histocompatibilty Class II genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency. J Clin Invest 1992;89: 1914–1922.

    Article  Google Scholar 

  45. Reijonen H, Ilonen J, Knip M, et al. Insulin-dependent diabetes mellitus associated with dermatitis herpetiformis: evidence for heterogeneity of HLA-associated genes. Tissue Antigens 1991;37:94–96.

    Article  PubMed  CAS  Google Scholar 

  46. Baisch JM, Weeks T, Gilles R, et al. Analysis of HLA-DQ genotypes and susceptibility in insulindependent diabetes mellitus. N Engl J Med 1990;322:1836–1841.

    Article  PubMed  CAS  Google Scholar 

  47. Thomson G, Robinson WP, Kuhner MK, et al. Genetic heterogeneity, modes of inheritance, and risk of estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus. Am J Hum Genet 1988;43:799–816.

    PubMed  CAS  Google Scholar 

  48. Santamaria P, Barbosa JJ, Lindstrom AL, et al. HLA-DQB 1-associated susceptibility that distinguishes Hashimoto’s thyroiditis from Graves’ disease in Type 1 diabetic patients. J Clin Endocrinol Metab 1994;878–883.

    Google Scholar 

  49. Inoue D, Sato K, Sugawa H, et al. Apparent genetic difference between hypothyroid patients with blocking type thyrtropin receptor antibody and those without, as shown by restriction fragment length polymorphism analyses of HLA-DP loci [see comments]. J Clin Endocrinol Metab 1993;77:606–610.

    Article  PubMed  CAS  Google Scholar 

  50. Bennett ST, Lucassen AM, Gough SCL, et al. Susceptibilty to human type I diabetes mellitus at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nat Genet 1995;9:284–292.

    Article  PubMed  CAS  Google Scholar 

  51. McLachlan SM. The genetic basis of autoimmune thyroid disease: time to focus on chromosomal loci other than the histocompatibity complex (HLA in man) [editorial]. J Clin Endocrinol Metab 1995;77:605a–605c.

    Google Scholar 

  52. Hershman JM. Does thyroxine therapy prevent recurrence of Graves’ hyperthyroidism [editorial]? J Clin Endocrinol Metab 1995;80:1479–1480.

    Article  PubMed  CAS  Google Scholar 

  53. McGregor AM. Autoantibodies to the TSH receptor in patients with autoimmune thyroid disease. Clin Endocrinol 1990;33:683–685.

    Article  CAS  Google Scholar 

  54. Valente WA, Vitti P, Yavin Z, Yavin E, Rotella CM, Grollman EF, et al. Monoclonal antibodies to the thyrotropin receptor: stimulating and blocking antibodies derived from lymphocytes of patients with Graves’ disease. Proc Natl Acad Sci USA 1982;79:6680–6684.

    Article  PubMed  CAS  Google Scholar 

  55. Uibo R, Perheentupa J, Ovod V, Krohn KJE. Characterization of adrenal autoantigens recognized by sera from patients with autoimmune polyglandular syndrome type I. J Autoimmun 1994;7:399–441.

    Article  PubMed  CAS  Google Scholar 

  56. Betterle C, Volpato M, Smith BR, et al. 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;82:939–942.

    Article  PubMed  CAS  Google Scholar 

  57. Falorni A, Laureti S, Nikoshkov A, et al. 21-hydroxylase autontibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison’s disease. Clin Exp Immuno11997;107:341–346.

    Google Scholar 

  58. Tanaka H, Perez MS, Powell M, et al. Steroid 21-hydroxylase autoantibodies: measurements with a new immunoprecipitation assay. J Clin Endocrinol Metab 1997;82:1440–1446.

    Article  PubMed  CAS  Google Scholar 

  59. Chen S, Sawicka J, Betterle C, et al. Autoantibodies to steroidogenic enzymes in autoimmune polyglandular symdrome, Addsion’s disease, and premature ovarian failure. J Clin Endocrinol Metab 1996;81:1871–1876.

    Article  PubMed  CAS  Google Scholar 

  60. Anderson JR, Goudie RB, Gray K, et al. Immunological features of idiopathic Addison’s disease: an antibody to cells producing steroid hormones. Clin Exp Immunol 1968;3:107–117.

    PubMed  CAS  Google Scholar 

  61. Uibo R, Aavik E, Peterson P, Perheentupa J, Aranko S, Pelkonen P, et al. Autoantibodies to cyochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease type I and II and in isolated Addison’s disease. J Clin Endocrinol Metab 1994;78:323–328.

    Article  PubMed  CAS  Google Scholar 

  62. Betterle C, Rossi A, Dalla Pria S, et al. Premature ovarian failure: autoimmunity and natural history. Clin Endocrinol 1993 ; 39: 35 –4 3.

    Google Scholar 

  63. Verge CF, Giannani R, Kawasaki E, et al. Prediction of Type 1 diabetes mellitus in first degree relatives using a combination of insulin, glutamic acid decarboxylase and ICA512bdc/IA2 autoantibodies. Diabetes 1996;45:926–933.

    Article  PubMed  CAS  Google Scholar 

  64. Wagner R, Genovese S, Bosi E, et al. Slow metabolic deterioration towards diabetes in islet cell antibody positive patients with autoimmune polyendocrine disease. Diabetologia 1994;37:365–371.

    Article  PubMed  CAS  Google Scholar 

  65. Gianani R, Pugliese A, Bonner-Weir S, et al. Prognostically significant heterogeneity of cytoplasmic islet cell antibodies in relatives of patients with Type 1 diabetes. Diabetes 1992;41:347–353.

    Article  PubMed  CAS  Google Scholar 

  66. Genovese S, Bonifacio E, McNally JM, et al. Distinct cytoplasmic islet cell antibodies with different risks for type I (insulin-dependent) diabetes mellitus. Diabetologia 1992;35:385–388.

    Article  PubMed  CAS  Google Scholar 

  67. Christie MR, Genovese S, Cassidy D, et al. Antibodies to islet 37k antigen, but not to glutamate decarboxylase, discriminate rapid progression to IDDM in endocrine autoimmunity. Diabetes Metab Rev 1994;43:1254–1259.

    CAS  Google Scholar 

  68. Rabin DU, Peasic SM, Shapiro JA, et al. Islet cell antigen 512 is a diabetes-specific islet autoantigen related to protin tyrosine phosphatases. J Immunol 1994;152:3183

    PubMed  CAS  Google Scholar 

  69. Wasmeier C, Hutton J. Molecular cloning of phogrin, a homologue localized to insulin secretory granule membranes. J Biol Chem 1996;71:18,161–18,170.

    Google Scholar 

  70. Kawasaki E, Eisenbarth GS, Wasmeier C, Hutton JC. Autoantibodies to protein tyrosine phosphataselike proteins in type I diabetes: overlapping specificities to phogrin and ICA512/IA-2. Diabetes Metab Rev 1996;45:1344–1349.

    CAS  Google Scholar 

  71. Berger R, Schmidt G. Evaluation of six anti-gliadin antibody assays. J Immunol Methods 1996;191:77–86.

    Article  PubMed  CAS  Google Scholar 

  72. Chan KN, Phillips AD, Mirakian R, Walker-Smith JA. Endomysial antibody screening in children. J Pediatr Gastroenterol Nutr 1994;18:316–320.

    Article  PubMed  CAS  Google Scholar 

  73. Karsaka K, Tuckova L, Steiner L, Tlaskalova-Hogenova H, Michalak M. Calreticulin-he potential autoantigen in celiac disease. Biochem Biophys Res Commun 1995;209:597–605.

    Article  Google Scholar 

  74. Dietrich W, Ehnis T, Bauer M, Donner P, Volta U, Riecken EO, et al. Identification of tissue transglutaminase as the autoantigen of celiac disease. Nature Med 1997;3:797–801.

    Article  Google Scholar 

  75. Li Y, Song YH, Rais N, Connor E, Schatz D, Muir A, et al. Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism. J Clin Invest 1996;97:910–914.

    Article  PubMed  CAS  Google Scholar 

  76. Toh B-H, Van Driel IR, Gleeson PA. Pernicious anemia. N Engl J Med 1997;337:1441–1448.

    Article  PubMed  CAS  Google Scholar 

  77. Clemente MG, Obermayerstraub P, Meloni A, Strassburg CP, Arangino V, Tukey RH, et al. Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome Type 1. J Clin Endocrinol Metab 1997;82:1353–1361.

    Article  PubMed  CAS  Google Scholar 

  78. Fairchild RS, Schimke RN, Abdou NI. Immunoregulation abnormalities in familial Addison’s disease. J Clin Endocrinol Metab 1980;51:1074–1077.

    Article  PubMed  CAS  Google Scholar 

  79. Kaffe S, Petigrow CS, Cahill LT, et al. Variable cell-mediated immune defects in a family with “Candida endocrinopathy syndrome.” Exp Clin Immunogenetics 1975;20:397–401.

    Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1999 Springer Science+Business Media New York

About this chapter

Cite this chapter

Maes, M., Eisenbarth, G.S. (1999). The Polyglandular Autoimmune Syndromes. In: Volpé, R. (eds) Autoimmune Endocrinopathies. Contemporary Endocrinology, vol 15. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-704-8_15

Download citation

  • DOI: https://doi.org/10.1007/978-1-59259-704-8_15

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-4757-4572-6

  • Online ISBN: 978-1-59259-704-8

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics