Immunological findings in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and their family members: Are heterozygotes subclinically affected?

Journal of Pediatric Endocrinology and Metabolism

Volumn 15, Issue 9, 2002, Pages 1491-1496

  Šedivá, Anna ^a   Čihǎkovǎ, Daniela ^a   Lebl, Jan ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED); Autoimmunity; Immune tolerance; Interferon gamma

Indexed keywords

AUTOANTIBODY; CD3 ANTIGEN; CD4 ANTIGEN; CYTOKINE; GAMMA INTERFERON; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN M; INTERLEUKIN 10; INTERLEUKIN 4; REGULATOR PROTEIN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELLULAR IMMUNITY; CONTROLLED STUDY; CYTOKINE PRODUCTION; FEMALE; FREQUENCY ANALYSIS; GENE ACTIVITY; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERIMMUNOGLOBULINEMIA; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOLOGICAL PARAMETERS; IMMUNOLOGICAL TOLERANCE; PROTEIN BLOOD LEVEL; REGULATOR GENE; SCHOOL CHILD; SMOOTH MUSCLE; STOMACH PARIETAL CELL; T LYMPHOCYTE; T LYMPHOCYTE ACTIVATION;

EID: 0036914217     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2002.15.9.1491     Document Type: Article

References (23)

1. Perheentupa J, Miettinen A. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. In: Eisenbarth GS, ed. Endocrine and Organ Specific Autoimmunity. Austin, TX: RG Landes Co., 1999; 19-40.
2. 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.
3. Obermayer-Straub P, Manns MP. Autoimmune polyglandular syndromes. Baillières Clin Gastroenterol 1998; 12: 293-315.
4. Muir A, She JX. Advances in the genetics and immunology of autoimmune polyglandular syndrome II/III and their clinical applications. Ann Med Intern (Paris) 1999; 150: 301-312.
5. Peterson P, Uibo R, Krohn KJ. Adrenal autoimmunity: results and developments. Trends Endocrinol Metab 2000; 11: 285-290.
6. Graber MA, Freed HA. Polyglandular autoimmune syndrome: a cause of multiple and sequential endocrine emergencies. Am J Emerg Med 1992; 10: 130-132.
7. Baker JR Jr. Autoimmune endocrine disease. JAMA 1997; 278: 1931-1937.
8. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N. Positional cloning of the APECED gene. Nat Genet 1997; 17: 393-398.
9. The Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Nat Genet 1997; 17: 399-403.
10. Peterson P, Nagamine K, Scott H, Heino M, Kudoh J, Shimizu N, Antonarakis SE, Krohn KJ. APECED: a monogenic autoimmune disease providing new clues to self-tolerance. Immunol Today 1998; 19: 384-386.
11. Pitkanen J, Doucas V, Sternsdorf T, Nakajima T, Aratani S, Jensen K, Will H, Vahamurto P, Ollila J, Vihinen M, Scott HS, Antonarakis SE, Kudoh J, Shimizu N, Krohn K, Peterson P. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. J Biol Chem 2000; 275: 16802-16809.
12. Heino M, Peterson P, Kudoh J, Nagamine K, Lagerstedt A, Ovod V, Ranki A, Rantala I, Nieminen M, Tuukkanen J, Scott HS, Antonarakis SE, Shimizu N, Krohn K. Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla. Biochem Biophys Res Commun 1999; 257: 821-825.
13. Bjorses P, Pelto-Huikko M, Kaukonen J, Aaltonen J, Peltonen L, Ulmanen I. Localization of the APECED protein in distinct nuclear structures. Hum Mol Genet 1999; 8: 259-266.
14. Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, Perheentupa J, Ulmanen I, Peltonen L. 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.
15. Wang CY, Davoodi-Semiromi A, Huang W, Connor E, Shi JD, She JX. Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1). Hum Genet 1998; 103: 681-685.
16. Zuklys S, Balciunaite G, Agarwal A, Fasler-Kan E, Palmer E, Hollander GA. 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.
17. Cihakova D, Trebusak K, Heino M, Fadeyev V, Tiulpakov A, Battelino T, Tar A, Halász Z, Blümel P, Tawfik S, Krohn K, Lebl J, Peterson P and the MEWPE-APECED study group. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. Hum Mutat 2001; 18: 225-232.
18. Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C, Cohen A, Seri M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas M, Rossier C, Nagamine K, Kudoh J, Shimizu N, Antonarakis SE. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patients of different origins. Mol Endocrinol 1998; 12: 1112-1119.
19. Perniola R, Falorni A, Clemente MG, Forini F, Accogli E, Lobreglio G. Organ-specific and non-organ-specific autoantibodies in children and young adults with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Eur J Endocrinol 2000; 143: 497-503.
20. Clemente MG, Meloni A, Obermayer-Straub P, Frau F, Manns MP, De Virgiliis S. Two cytochromes P450 are major hepatocellular autoantigens in autoimmune polyglandular syndrome type 1. Gastroenterology 1998; 114: 324-328.
21. Clemente MG, Obermayer-Straub P, Meloni A, Strassburg CP, Arangino V, Tukey RH, De Virgiliis S, Manns MP. Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1997; 82: 1353-1361.
22. Uibo R, Aavik E, Peterson P, Perheentupa J, Aranko S, Pelkonen R, Krohn K. Autoantibodies to cytochrome P450scc, P450c17 and P450c21 in autoimmune polyglandular disease type I and II and in isolated Addison's disease. J Clin Endocrin Metab 1994; 78: 323-328.
23. Cetani F, Barbesino G, Borsari S, Pardi E, Cianferotti L, Pinchera A, Marcocci C. 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.