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Polyglandular Autoimmune Diseases

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Endocrine Pathology:

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Abstract

Autoimmune polyendocrine syndromes constitute a wide variety of disorders associated with the hypofunction of various endocrine organs, candidiasis and immunological abnormalities. Antibodies directed against various endocrine organs may be present. They have been subdivided into two major groups.

The majority of autoimmune polyendocrine syndromes belong to the APS II group. Although the gene for APS I have been cloned and characterized, this has not yet been accomplished for APS II, but various HLA loci have been implicated in susceptibility to APS II.

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References

  1. Eisenbarth GS, Verge CF (1998) Immunoendocrinopathy syndromes. In: Wilson JD, Foster DW, Kronenberg HM, Larsen PR (eds) Williams textbook of endocrinology, 9th edn. WB Saunders, Philadelphia, pp 1651–1662

    Google Scholar 

  2. Orth DN, Kovacs WJ (1998) The adrenal cortex. In: Wilson JD, Foster DW, Kronenberg HM, Larsen PR (eds) Williams textbook of endocrinology, 9th edn. WB Saunders, Philadelphia, pp 517–664

    Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  Google Scholar 

  5. Anderson MS (2008) Update in endocrine autoimmunity. J Clin Endocrinol Metab 93:3663–3670

    Article  CAS  PubMed  Google Scholar 

  6. Blizzard RM, Chee D, Davis W (1966) The incidence of parathyroid and other antibodies in the sera of patients with idiopathic hypoparathyroidism. Clin Exp Immunol 1:119–128

    CAS  PubMed  Google Scholar 

  7. Krohn K, Uibo R, Aavik E, Peterson P, Savilahti K (1992) Identification by molecular cloning of an autoantigen associated with Addison’s disease as steroid 17 alpha-hydroxylase. Lancet 339:770–773

    Article  CAS  PubMed  Google Scholar 

  8. Uibo R, Aavik E, Peterson P et al (1994) Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison’s disease. J Clin Endocrinol Metab 78:323–328

    Article  CAS  PubMed  Google Scholar 

  9. Tuomi T, Bjorses P, Falorni A et al (1996) Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 81:1488–1494

    Article  CAS  PubMed  Google Scholar 

  10. Ahonen P (1985) Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED): autosomal recessive inheritance. Clin Genet 27:535–542

    Article  CAS  PubMed  Google Scholar 

  11. Zlotogora J, Shapiro MS (1992) Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 29:824–826

    Article  CAS  PubMed  Google Scholar 

  12. Kumar PG, Laloraya M, She JX (2002) Population genetics and functions of the autoimmune regulator (AIRE). Endocrinol Metab Clin North Am 2:321–338

    Article  Google Scholar 

  13. Mathis D, Benoist C (2007) A decade of AIRE. Nat Rev Immunol 7:645–650

    Article  CAS  PubMed  Google Scholar 

  14. Vogel A, Strassburg CP, Obermayer-Straub P, Brabant G, Manns MP (2002) The genetic background of autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy and its autoimmune disease components. J Mol Med 80:201–211

    Article  CAS  PubMed  Google Scholar 

  15. Chen QY, Lan MS, She JX, Maclaren NK (1998) The gene responsible for autoimmune polyglandular syndrome type 1 maps to chromosome 21q22.3 in US patients. J Autoimmun 11:177–183

    Article  CAS  PubMed  Google Scholar 

  16. Meyer G, Donner H, Herwig J, Bohles H, Usadel KH, Badenhoop K (2001) Screening for an AIRE-1 mutation in patients with Addison’s disease, type I diabetes, Graves’ disease and Hashimoto’s thyroiditis as well as in APECED syndrome. Clin Endocrinol (Oxf) 54:335–338

    Article  CAS  Google Scholar 

  17. Su MA, Giang K, Zumer K et al (2008) Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire. J Clin Invest 18:1712–1726

    Article  Google Scholar 

  18. Alimohammadi M, Bjorklund P, Hallgren A et al (2008) Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 358:1018–1028

    Article  CAS  PubMed  Google Scholar 

  19. Boe Wolff AS, Oftedal B, Johansson S et al (2008) AIRE variations in Addison’s disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. Genes Immun 9:130–136

    Article  CAS  PubMed  Google Scholar 

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

    CAS  PubMed  Google Scholar 

  21. Baisch JM, Weeks T, Giles R, Hoover M, Stastny P, Capra JD (1990) Analysis of HLA-DQ genotypes and susceptibility in insulin-dependent diabetes mellitus. N Engl J Med 332:1836–1841

    Article  Google Scholar 

  22. Santamaria P, Barbosa JJ, Lindstrom AL, Lemke TA, Goetz FC, Rich SS (1994) HLA-DQB I-associated susceptibility that distinguishes Hashimoto’s thyroiditis from Graves’ disease in type I diabetic patients. J Clin Endocrinol Metab 78:878–883

    Article  CAS  PubMed  Google Scholar 

  23. McDermid HE, Morrow BE (2002) Genomic disorders on 22q11. Am J Hum Genet 70:1077–1088

    Article  CAS  PubMed  Google Scholar 

  24. Iascone MR, Vittorini S, Sacchelli M, Spadoni I, Simi P, Giusti S (2002) Molecular characterization of 22q I I deletion in a three-generation family with maternal transmission. Am J Med Genet 108:319–321

    Article  PubMed  Google Scholar 

  25. Rabinowe SL, Rubin IL, George KL, Adri MN, Eisenbarth GS (1989) Trisomy 21 (Down’s syndrome): autoimmunity, aging and monoclonal antibody-defined T-cell abnormalities. J Autoimmun 2:25–30

    Article  CAS  PubMed  Google Scholar 

  26. Imawari M, Akatsuka N, Ishibashi M, Beppu H, Suzuki H (1974) Syndrome of plasma cell dyscrasia, polyneuropathy, and endocrine disturbances. Report of a case. Ann Intern Med 81:490–493

    CAS  PubMed  Google Scholar 

  27. Amiel JL, Machover D, Droz JP (1975) Dyscrasie plasmocytaire avec arteriopathie, polyneuropathie, syndrome endocrinien. Ann Med Intern 126:745–749

    CAS  Google Scholar 

  28. Iwashita H, Ohnishi A, Asada M, Kanazawa Y, Kuroiwa Y (1977) Polyneuropathy, skin hyperpigmentation, edema, and hypertrichosis in localized osteosclerotic myeloma. Neurology 27:675–681

    CAS  PubMed  Google Scholar 

  29. Ballarini A, Lee-Kirsch MA (2007) Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes. Ann NY Acad Sci 1110:159–165

    Article  CAS  PubMed  Google Scholar 

  30. Menser MA, Forrest JM, Bransby RD (1978) Rubella infection and diabetes mellitus. Lancet 1:57–60

    Article  CAS  PubMed  Google Scholar 

  31. Rabinowe SL, George KL, Loughlin R, Soeldner JS, Eisenbarth GS (1986) Congenital rubella. Monoclonal antibody-defined T cell abnormalities in young adults. Am J Med 81:779–782

    Article  CAS  PubMed  Google Scholar 

  32. Kahn CR, Flier JS, Bar RS et al (1976) The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man. N Engl J Med 294:739–745

    Article  CAS  PubMed  Google Scholar 

  33. Flier JS, Bar RS, Muggeo M et al (1978) The evolving clinical course of patients with insulin receptor autoantibodies: spontaneous remission or receptor proliferation with hypoglycemia. J Clin Endocrinol Metab 47:985–995

    Article  CAS  PubMed  Google Scholar 

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  1. Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA

    Ricardo V. Lloyd

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  1. Ricardo V. Lloyd
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Correspondence to Ricardo V. Lloyd .

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  1. Dept. Laboratory Medicine & Pathology, Mayo Clinic, First Street SW 200, Rochester, 55905, U.S.A.

    Ricardo V. Lloyd

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Lloyd, R.V. (2010). Polyglandular Autoimmune Diseases. In: Lloyd, R. (eds) Endocrine Pathology:. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1069-1_25

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  • DOI: https://doi.org/10.1007/978-1-4419-1069-1_25

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4419-1068-4

  • Online ISBN: 978-1-4419-1069-1

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