Skip to main content
Log in

Autoimmune polyglandular syndrome type 1

  • Published:
Clinical Reviews in Allergy & Immunology Aims and scope Submit manuscript

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

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. Neufeld M, Maclaren NK, Blizzard RM. Two types of autoimmune Addison's Disease associated with different Polyglandular Autoimmune (PGA) Syndromes. Medicine 1980; 60:355–362.

    Google Scholar 

  2. Ahonen, P.S.M., Sipilä 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 

  3. Riley WJ. Autoimmune polyglandular syndromes. Horm Res 38 1992; (suppl. 2): 9–15.

    PubMed  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  5. Betterle C, Greggio NA, Volpato M. Autoimmune Polyglandular Syndrome Type 1. J Clin Endocrinol Metab 1998; 83:1049–1055.

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  7. Aaltonen J, Bjoerses P, Perheentupa J, Horelli-Kuitunen N, Paloti A, Peltonen L, et al. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc finger domains. Nature Genet 1997; 17:399–403.

    Article  Google Scholar 

  8. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, et al. Positional cloning of the APECED gene. Nature Genet 1997; 17:393–398.

    Article  PubMed  CAS  Google Scholar 

  9. Zlotogora J, Shapiro MS. Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 1992; 20:824–826.

    Google Scholar 

  10. Zlotogora J. Hereditary disorders among Iranian Jews. Am J Med Genet 1995; 58:32–37.

    Article  PubMed  CAS  Google Scholar 

  11. Bjorses P, Aaltonen J, Vikman A, Perheentupa J, Ben-Zion G, Chiumello G, et al. Genetic homogeneity of autoimmune polyglandular disease type 1. Am J Hum Genet 1996; 59:879–886.

    PubMed  CAS  Google Scholar 

  12. Aaltonen J, Komulainen J, Vikman A, Palotie A, Wadelius C, Perheentupa J, Peltonen L. Autoimmune polyglandular disease type 1. Exclusion map using amplifiable multiallelic markers in a microtiter well format. Eur J Hum Genet 1993; 1:164–171.

    PubMed  CAS  Google Scholar 

  13. Kozak M. Compilation and analysis of sequences upstream from the translation start site in eukaryotic mRNAs. Nucleic Acids Res 1984; 12:857–872.

    Article  PubMed  CAS  Google Scholar 

  14. Ge Q, Nilasena DS, O'Brien CA, Frank MB, Targoff I. Molecular analysis of a major antigenic region of the 240-kD protein of Mi-2 autoantigen. J Clin Invest 1995; 96:1730–1737.

    PubMed  CAS  Google Scholar 

  15. Seelig HP, Moosbrugger I, Fink T, Renz M, Genth E. The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation. Arthritis Rheum 1995; 38:1389–1399.

    Article  PubMed  CAS  Google Scholar 

  16. Le Douarin B, Nielsen AL, Gamier JM, Ichinose H, Jeanmougin F, Losson R, Chambon P. The N-terminal part of TIF1, a putative mediator of ligand-dependent activation function (AF-2) of nuclear receptors is fused to B-raf in the oncogenic protein T18. EMBO J 1995; 14:2020–2033.

    PubMed  Google Scholar 

  17. Thenot S, Henriquet C, Rochefort H, Cavailles V. Differential interaction of nuclear receptors with the putative human transcriptional coactivator hTIF1. J Biol Chem 1997; 272:12,062–12,068.

    Article  CAS  Google Scholar 

  18. Kim SS, Chen YM, O'Leary E, Witzgali R, Vidal M., Bonventre JV. A novel member if the RING finger family, KRIP-q, associates with the KRAB-A transcriptional repressor domain of zinc finger proteins. Proc Natl Acad Sci USA 1996; 19:15,299–15,304.

    Google Scholar 

  19. Aasland R, Gibson TJ, Stewart AF. The PHD finger: implications for chromatin-mediated transcriptional regulation. Trends Biochem Sci 1995; 20:56–59.

    Article  PubMed  CAS  Google Scholar 

  20. Ahonen P, Koskimies S, Lokki ML, Tiilikainen A, Perheentupa J. The expression of autoimmune polyglandular disease type I appeard associated with several H LA-A antigens but not with HLA-DR. J Clin Endocrinol Metabol 1988; 66:1152–1157.

    CAS  Google Scholar 

  21. Neufeld M, Maclaren N, Blizzard R. Autoimmune polyglandular syndromes. Pediatr Ann 1980; 9:154–162.

    PubMed  CAS  Google Scholar 

  22. Henrod HG. Chronic mucocutaneous candidiasis and complications of noncandida infection: a report of the Pediatric Immunodeficiency Collaborative Study Group. J Pediatr 1990; 116:377–382.

    Article  Google Scholar 

  23. Li Y, Song YH, Rais N, Connor E, Schak D, Mui A, Maclaren N. 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 

  24. Brown EM, Gamba G, Riccardi D, Lombardi M, Butters R, Kifor O, et al. Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid. Nature 1993; 366:575–580.

    Article  PubMed  CAS  Google Scholar 

  25. Ahonen P, Miettinen A, Perheentupa J. Adrenal and steroidal cell antibodies in patients with Autoimmune Polyglandular Disease Type I and risk of adrenocortical and ovarian failure. J Clin Endocrinol Metabol 1987; 64:494–500.

    Article  CAS  Google Scholar 

  26. Peterson P, Krohn JE. Mapping of B cell epitopes on steroid 17a-hydroxylase, an autoantigen in autoimmune polyglandular syndrome type 1. Clin Exp Immunol 1994; 989:104–110.

    Google Scholar 

  27. Krohn K, Uibo R, Aavik E, Peterson P, Savilahti K. Identification by molecular cloning of an auto antigen associated with Addison's Disease as steroid 17alpha-hydroxylase. Lancet 1992; 339:770–773.

    Article  PubMed  CAS  Google Scholar 

  28. Song Y-H, Li Y, Maclaren NK. The nature of autoantigen targets in autoimmune endocrine diseases. Immunology Today 1996; 17:232–238.

    Article  PubMed  CAS  Google Scholar 

  29. Winqvist O, Gebre-Mehedin G, Gustafsson J, Riken EM, Lundquist O, Karlsson FA, Kampe O. Identification of the main gonadal autoantigens in patients with adrenal insufficiency and associated ovarian failure. J Clin Endocrinol Metabol 1995; 80:1717–1723.

    Article  CAS  Google Scholar 

  30. Winqvist O, Gustafsson J, Rorsman F, Karlsson F, Kampe O. Two different cytochrome P450 enzymes are the adrenal antigens in Autoimmune Polyendocrine Symptome Type 1 and Addison's disease. J Clin Invest 1994; 92:2377–2385.

    Google Scholar 

  31. Winqvist O, Karlsson FA, Kampe O. 21-Hydroxylase, a major autoantigen in idiopathic Addison's disease. Lancet 1992; 339:1559–1562.

    Article  PubMed  CAS  Google Scholar 

  32. Uibo R, Aavik E, Peterson P, Perheentupa J, Aranko S, Pelkonen R, Krohn KJ. Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and 11 and in isolated Addison's disease. J Clin Endocrinol Metabol 1994; 78:323–328.

    Article  CAS  Google Scholar 

  33. Uibo R, Perheentupa J, Ovod V, Krohn KJ. Characterization of adrenal autoantigens recognized by sera from patients with autoimmune polyglandular syndrome (APS) type 1. J Autoimmunity 1994; 7:399–411.

    Article  CAS  Google Scholar 

  34. Nebert DW, Gonzalez FJ. Cytochrome P450 genes, structure, evolution and regulation. Ann Rev Biochem 1987; 56:945–993.

    Article  PubMed  CAS  Google Scholar 

  35. Peterson P, Uibo R, Peranen J, Krohn K. Immunoprecipitation of steroidogenic enzyme antigens with autoimmune polyglandular syndrome type I (APSI) sera; further evidence for independent humoral immunity to P450c17 and P450 c21. Clin Exp Immunol 1997; 107:335–340.

    Article  PubMed  CAS  Google Scholar 

  36. Söderbergh A, Winqvist O, Norheim I, Rorsman F, Husebye ES, Dolva O, et al. Adrenal autoantibodies and organ-specific autoimmunity in patients with Addison's disease. Clin Endocrinol 1996; 45:453–460.

    Article  Google Scholar 

  37. Betterle C, Volpato M, Smith BR, Fumaraniak J, Chen S, Zanchetta R, 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 Metabol 1997; 82:939–942.

    Article  CAS  Google Scholar 

  38. Colls J, Betterle C, Volpato M, Prentice L, Smith BR, Furmaniak J. Immunoprecipitation assay for autoantibodies to steroid 21-hydroxylase in autoimmune adrenal diseases. Clin Chem 1995; 41:375–380.

    PubMed  CAS  Google Scholar 

  39. 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 Met 1996; 81:1871–1876.

    Article  CAS  Google Scholar 

  40. Tsatsoulis A, Shalet S.M., Antisperm antibodies in the polyglandular autoimmune (PGA) syndrome type 1: response to cyclical steroid therapy. Clin. Endocrinol. Oxf. 1991; 35:299–303.

    PubMed  CAS  Google Scholar 

  41. Gorsuch AN, Spencer KM, Lister J, McNally JM, Dean BM, Bottazo GF, Cudworth AG. Evidence for a long prediabetic period in type I (insulin-dependent) diabetes mellitus. Lancet 1981; ii: 1363–1365.

    Article  Google Scholar 

  42. Rossini M, Greiner DL, Friedman HP, Mordes JP. Immunopathogenesis of diabetes mellitus. Diabetes Rev 1993; 1:43–75.

    Google Scholar 

  43. Baekkeskov S, Aanstoot HJ, Christgau S, Reetz A, Solimera M, Cascalho M, et al. Identification of the 64K autoantigen in insulin-dependent diabetes mellitus as the GABA-synthesizing enzyme glutamic acid decarboxylase. Nature 1990; 347:151–156.

    Article  PubMed  CAS  Google Scholar 

  44. Palmer JP. Insulin autoantibodies: their role in the pathogenesis of IDDM. Diabetes Metab Rev 1987; 3:1005–1015.

    Article  PubMed  CAS  Google Scholar 

  45. Bruining GJ, Molenaar JL, Grobbee DE, Hofman A, Scheffer GJ, Bruining HA, et al. Ten-year follow-up study pf islet-cell antibodies and childhood diabetes mellitus. Lancet 1989; I:1100–1103.

    Article  Google Scholar 

  46. Greenbaum CJ, Brooks-Worrell BM, Palmer JP, Lermark A. Autoimmunity and prediction of insulin-dependent diabetes mellitus. In: Marshall SM, Home PD (eds.) The Diabetes Annual. Amsterdam: Elsevier, 1994, pp 21–52.

    Google Scholar 

  47. Tuomi T, Bjorses P, Falorni A, Partanen J, Perheentupa J, Lernmark A, Miettinen A. Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 1996; 81:1488–1494.

    Article  PubMed  CAS  Google Scholar 

  48. Bjork E, Velloso LA, Kampe O, Karlsson FA. GAD Autoantibodies in IDDM, Stiff-man syndrome, and autoimmune polyendocrine syndrome type 1 recognize different epitopes. Diabetes 1994; 43:161–165.

    Article  PubMed  CAS  Google Scholar 

  49. Paronen J, Klemetti P, Kantele JM, Savilahti E, Perheentupa J, Akerblom HK, Vaarala O. Glutamate decarboxylase-reactive peripheral blood lymphocytes from patients with IDDM express gut-specific homing receptor alpha4beta7-integrin. Diabetes 1997; 46:583–588.

    Article  PubMed  CAS  Google Scholar 

  50. Rorsman F, Husebye ES, Winquist O, Bjork E, Karlsson FA, Kampe O. Aromatic-L aminoacid decarboxylase, a pyridoxal phosphate-dependent enzyme, is a beta-cell autoantigen. Proc Natl Acad Sci USA 1995; 92:8626–8629.

    Article  PubMed  CAS  Google Scholar 

  51. Christenson JG, Dairman W, Udenfried S. On the identity of DOPA decarboxylase and 5hydroxytryptophan decarboxylase (immunological titration-aromatic L-aminoacid decarboxylase-serotonin-dopamine-norepinephrine). Proc Natl Acad Sci USA 1972; 69:343–347.

    Article  PubMed  CAS  Google Scholar 

  52. Kang UJ, Joh TH. Deduced amino acid sequence of bovine aromatic L-amino acid decarboxylase: homology to other decarboxylases. Mol Brain Res 1990; 8:83–87.

    Article  PubMed  CAS  Google Scholar 

  53. Husebye ES, Gebre-Mehedin G, Tuomi T, Perheentupa J, Landin-Olsson M, Gustafsson J, et al. Autoantibodies against aroma/iv-L-amino acid decarboxylase in autoimmune polyendocrine syndrome type 1. J Clin Endocrini Metabol 1997; 82:147–150.

    Article  CAS  Google Scholar 

  54. Michele TM, Fleckenstein J, Sgrignoli AR, Tuluvath PJ. Chronic active hepatitis in the type I polyglandular autoimmune syndrome. J Postgrad Med 1994; 70:128–131.

    Article  CAS  Google Scholar 

  55. Clemente MG, Obermayer-Straub P, Meloni A, Tukey RH, Cao A, DeVirgiliis S, Manns MP. Cytochrome P450 1A2 as the hepatocellular autoantigen in autoimmune polyendocrine syndrome type 1. J Hepatol 1995; 23 (Suppl.1):126.

    Google Scholar 

  56. Sacher M, Blumel P, Thaler H, Manns M. Chronic active hepatitis associated with vitiligo, nail dystrophy, alopecia and a new variant of LKM antibodies. J Hepatol 1990; 10:364–369.

    Article  PubMed  CAS  Google Scholar 

  57. Clemente MG, Obermayer-Straub 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 Metabol 1997; 82:1353–1361.

    Article  CAS  Google Scholar 

  58. Manns MP, Grifffin KJ, Quattrochi L, Sacher M, Thaler H, Tukey R, Johnson EF. Identification of cytochrome P450 IA2 as a human autoantigen. Arch Biochem Biophys 1990; 280:229–232.

    Article  PubMed  CAS  Google Scholar 

  59. Gebre-Medhin G, Husebye ES, Gustafsson J, Winqvist O, Goksoyr A, Rorsman F, Kampe O. Cytochrome P4501A2 and aromatic L-amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type 1. FEBS Lett. 1997; 412:439–445.

    Article  PubMed  CAS  Google Scholar 

  60. Clemente M.G, Meloni A, Obermayer-Straub P, Frau F, Manns MP, DeVirgillis S. Two Cytochromes P450 are major hepatocellular autoantigens in autoimmune polyglandular syndrome type 1. Gastroenterology 1998; 114:324–328.

    Article  PubMed  CAS  Google Scholar 

  61. Obermayer-Straub P, Braun S, Loges S, Clemente MG, Dalekos G, Lüttig B, et al. Cytochromes P4501A2 and P4502A6 are hepatic autoantigens in the autoimmune polyglandular syndrome type 1 (APS-1). Proceedings of the 12th International Symposium on Microsomes and Drug Oxidations in Montpellier. 1998: A 416.

  62. Obermayer-Straub P, Braun S, Grams B, Loges S, Clemente MG, Lüttig B, et al. Different liver cytochromes P450s are autoantigens in patients with autoimmune hepatitis and with autoimmune polyglandular syndrome type 1 (APS1). Hepatol. 1996; 24 (Suppl. 4):429.

    Google Scholar 

  63. Dalekos GN, Obermayer-Straub P, Maeda T, Tsianos EV, Manns MP. Antibodies against cytochrome P4502A6 (CYP2A6) in patients with chronic viral hepatitis are mainly linked to hepatitis C virus infection. Digestion 1998; 59 (S3):36.

    Google Scholar 

  64. Ekwall O, Hedstrand H, Grimelius L, Haavik J, Perheentupa J, Gustafsson J, et al. Identification of tryptophan hydroxylase as an intestinal autoantigen. Lancet 1998; 352:255, 256.

    Article  Google Scholar 

  65. McGregor BC, Katz Hl, Doe RP. Vitiligo and multiple glandular insufficiencies. JAMA 1972; 219:724, 725.

    Article  PubMed  CAS  Google Scholar 

  66. Bronstoff J. Autoantibodies in patients with vitiligo. Lancet 1969; ii:177, 178.

    Article  Google Scholar 

  67. Betterle CA, Pesserico A, Bersani G. Vitiligo and autoimmune polyendocrine deficiencies with autoantibodies to melanin-producing cells. Arch Dermatol 1979; 115:364.

    Article  PubMed  CAS  Google Scholar 

  68. Betterle C, Caretto A, Pedini B, Rigon F, Bertoli P, Peserico A. Complement-fixing activity to melanin-producing cells preceding the onset of vitiligo in a patient with type 1 polyglandular failure [letter]. Arch Dermatol 1992; 128:123, 124.

    Article  PubMed  CAS  Google Scholar 

  69. Herk KL, Gazze C, Kirkpattrick C, Katz S. Autoimmune vitiligo. N Engl J Med 1977; 297:634–637.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Michael P. Manns.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Obermayer-Straub, P., Strassburg, C.P. & Manns, M.P. Autoimmune polyglandular syndrome type 1. Clinic Rev Allerg Immunol 18, 167–183 (2000). https://doi.org/10.1385/CRIAI:18:2:167

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1385/CRIAI:18:2:167

Keywords

Navigation