Autoimmune regulator (AIRE) gene on chromosome 21: Implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and more common manifestations of endocrine autoimmunity

Journal of Endocrinological Investigation

Volumn 25, Issue 9, 2002, Pages 804-811

  Meyer, G ^a   Badenhoop, Klaus ^a  

^a UNIVERSITY HOSPITAL FRANKFURT   (Germany)

Author keywords

Autoimmunity; Pluriglandular syndrome; Polyglandular deficiency

Indexed keywords

ADDISON DISEASE; ADRENAL INSUFFICIENCY; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOIMMUNITY; CHROMOSOME 21Q; CLINICAL FEATURE; DISEASE CONTROL; DISEASE MODEL; DYSTROPHY; ENDOCRINE DISEASE; ENDOCRINE FUNCTION; EXON; GENE MUTATION; GENETIC ASSOCIATION; GRAVES DISEASE; HASHIMOTO DISEASE; HETEROZYGOSITY; HUMAN; HYPOGONADISM; HYPOPARATHYROIDISM; IMMUNOPATHOLOGY; INSULIN DEPENDENT DIABETES MELLITUS; KNOCKOUT MOUSE; MONOGENIC DISORDER; MUCOCUTANEOUS CANDIDIASIS; NONHUMAN; PREVALENCE; REGULATOR GENE; REVIEW; SCREENING; THYROID DISEASE;

EID: 0036796106     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03345516     Document Type: Review

References (48)

1. Ahonen P. Autoimmune polyendocrinopathy-candidiosis-ectodermal dystrophy (APECED): autosomal recessive inheritance. Clin. Genet. 1985, 27: 535-542.
2. Ahonen P., Myllärniemi S., 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.
3. Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Horm. Metab. Res. 1996, 28: 353-356.
4. Betterle C., Greggio N.A., Volpato M. Clinical review 93: Autoimmune polyglandular syndrome type 1. J. Clin. Endocrinol. Metab. 1998, 83: 1049-1055.
5. Velloso L.A., Winqvist O., Gustafsson J., Kampe O., Karlsson F.A. Autoantibodies against a novel 51 kDa islet antigen and glutamate decarboxylase isoforms in autoimmune polyendocrine syndrome type I. Diabetologia 1994, 37: 61-69.
6. Tuomi T., Bjorses P., Falorni A., et al. Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I. J. Clin. Endocrinol. Metab. 1996, 81: 1488-1494.
7. Husebye E.S., Gebre-Medhin G., Tuomi T., et al. Auto-antibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. J. Clin. Endocrinol. Metab. 1997, 82: 147-150.
8. Bjorses P., Aaltonen J., Horelli-Kuitunen N., Yaspo M.L., Peltonen L. Gene defect behind APECED: a new clue to autoimmunity. Hum. Mol. Genet. 1998, 7: 1547-1553.
9. Peterson P., Nagamine K., Scott H., et al. APECED: a monogenic autoimmune disease providing new clues to self-tolerance. Immunol. Today 1998, 19: 384-386.
10. Rosatelli M.C., Meloni A., Meloni A., et al. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum. Genet. 1998, 103: 428-434.
11. Scott H.S., Heino M., Peterson P., et al. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Mol. Endocrinol. 1998, 12: 1112-1119.
12. Klemetti P., Bjorses P., Tuomi T., et al. Autoimmunity to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Clin. Exp. Immunol. 2000, 119: 419-425.
13. Uibo R., Aavik E., Peterson P., et al. 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. 1994, 78: 323-328.
14. Ekwall O., Hedstrand H., Grimelius L., et al. Identification of tryptophan hydroxylase as an intestinal autoantigen. Lancet 1998, 352: 279-283.
15. Zlotogora J., Shapiro M.S. Polyglandular autoimmune syndrome type I among Iranian Jews. J. Med. Genet. 1992, 29: 824-826.
16. Bjorses P., Halonen M., Palvimo J.J., et al. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am. J. Hum. Genet. 2000, 66: 378-392.
17. Weetman A.P. Autoimmunity and endocrinology. Exp. Clin. Endocrinol. Diabetes 1999, 107: S63-S66.
18. Meloni A., Perniola R., Faa V., Corvaglia E., Cao A., Rosatelli M.C. Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy. J. Clin. Endocrinol. Metab. 2002, 87: 841-846.
19. Aaltonen J., Horelli-Kuitunen N., Fan J.B., et al. High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH. Genome Res. 1997, 7: 820-829.
20. Chen Q.Y., Lan M.S., She J.X., Maclaren N.K. The gene responsible for autoimmune polyglandular syndrome type 1 maps to chromosome 21q22.3 in US patients. J. Autoimmun. 1998, 11: 177-183.
21. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. The Finnish-German APECED Consortium. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. Nat. Genet. 1997, 17: 399-403.
22. Nagamine K., Peterson P., Scott H.S. et al. Positional cloning of the APECED gene. Nat. Genet. 1997, 17: 393-398.
23. Pitkänen J., Doucas V., Sternsdorf T., et al. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. J. Biol. Chem. 2000, 275: 16802-16809.
24. Heino M., Peterson P., Kudoh J., et al. Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla. Biochem. Biophys. Res. Commun. 1999, 257: 821-825.
25. Pearce S.H., 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: 1675-1684.
26. Wang C.Y., Davoodi-Semiromi A., Huang W., Connor E., Shi J.D., She J.X. Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). Hum. Genet. 1998, 103: 681-685.
27. Gibson T.J., Ramu C., Gemund C., Aasland R. The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor. Trends Biochem. Sci. 1998, 23: 242-244.
28. Ward L., Paquette J., Seidman E., et al. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy. J. Clin. Endocrinol. Metab. 1999, 84: 844-852.
29. Heino M., Scott H.S., Chen Q., et al. Mutation analyses of North American APS-1 patients. Hum. Mutat. 1999, 13: 69-74.
30. Ishii T., Suzuki Y., Ando N., Matsuo N., Ogata T. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J. Clin. Endocrinol. Metab. 2000, 85: 2922-2926.
31. Ahonen P., Koskimies S., Lokki M.L., Tiilikainen 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.
32. Hattori M., Fujiyama A., Taylor T.D., et al. The DNA sequence of human chromosome 21. Nature 2000, 405: 311-319.
33. Nithiyananthan R., Heward J.M., Allahabadia A., Barnett A.H., Franklyn J.A., Gough S.C. A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association. J. Clin. Endocrinol. Metab. 2000, 85: 1320-1322.
34. Vaidya B., Imrie H., Geatch D.R., et al. Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease. J. Clin. Endocrinol. Metab. 2000, 85: 688-691.
35. Meyer G., Donner H., Herwig J., Bohles H., Usadel K.H., Badenhoop K. 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: 335-338.
36. Pastinen T., Raitio M., Lindroos K., Tainola P., Peltonen L., Syvänen A.C. A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays. Genome Res. 2000, 10: 1031-1042.
37. Peltonen L., Jalanko A., Varilo T. Molecular genetics of the Finnish disease heritage. Hum. Mol. Genet. 1999, 8: 1913-1923.
38. Pitkänen J., Vahamurto P., Krohn K., Peterson P. Subcellular localization of the autoimmune regulator protein, characterization of nuclear targeting and transcriptional activation domain. J. Biol. Chem. 2001, 276: 19597-19602.
39. Otonkoski T., Roivainen M., Vaarala O., et al. Neonatal Type I diabetes associated with maternal echovirus 6 infection: a case report. Diabetologia 2000, 43: 1235-1238.
40. Heino M., Peterson P., Sillanpää N., et al. RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse. Eur. J. Immunol. 2000, 30: 1884-1893.
41. Zuklys S., Balciunaite G., Agarwal A., Fasler-Kan E., Palmer E., Hollander G.A. Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). J. Immunol. 2000, 165: 1976-1983.
42. Ramsey C., Winqvist 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.
43. Gylling M., Tuomi T., Bjorses P., et al. ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J. Clin. Endocrinol. Metab. 2000, 85: 4434-4440.
44. Cihakova D., Trebusak K., Heino M., et al. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. Hum. Mutat. 2001, 18: 225-232.
45. Heino M., Peterson P., Kudoh J., et al. APECED mutations in the autoimmune regulator (AIRE) gene. Hum. Mutat. 2001, 18: 205-211.
46. Cetani F., Barbesino G., Borsari S., et al. A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis. J. Clin. Endocrinol. Metab. 2001, 86: 4747-4752.
47. Vogel A., Liermann H., Harms A., Strassburg C.P., Manns M.P., Obermayer-Straub P. Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1. Hepatology 2001, 33: 1047-1052.
48. Saugier-Veber P., Drouot N., Wolf L.M., Kuhn J.M., Frebourg T., Lefebvre H. Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Eur. J. Endocrinol. 2001, 144: 347-351.