Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia / Klinične, Genetske nn Imunološke Značilnosti Otrok In Mladostnikov Z Avtoimunskim Poliglandularnim Sindromom Tipa 1 V Sloveniji

1. Perheentupa J. Autoimmune polyendocrinopathy-candidiasisectodermal dystrophy. J Clin Endocrinol Metab 2006; 91: 2843-50.10.1210/jc.2005-261116684821Search in Google Scholar

2. Podkrajsek KT, Bratanic N, Krzisnik C, Battelino T. Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. J Clin Endocrinol Metab 2005; 90: 4930-5.10.1210/jc.2005-041815886230Search in Google Scholar

3. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M. et al. Positional cloning of the APECED gene. Nat Genet 1997; 17: 393-8.10.1038/ng1297-3939398839Search in Google Scholar

4. Liston A, Lasage S, Wilson J, Peltonen L, Goodnow CC. Aire regulates negative selection of organ-specific T-cells. Nat Immunol 2003; 4: 350-4.10.1038/ni90612612579Search in Google Scholar

5. Peterson P, Peltonen L. Autoimmune polyglandular syndrome type 1 (APS1) and AIRE gene: new views on molecular basis od autoimmunity. J Autoimmun 2005; 25: 49-55.10.1016/j.jaut.2005.09.02216290093Search in Google Scholar

6. Meager A, Visvalingam K, Peterson P, Möll K, Murumägi A, Krohn K. et al. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Med 2006; 3: e289.10.1371/journal.pmed.0030289147565316784312Search in Google Scholar

7. Kisand K, Bøe Wolff AS, Podkrajsek KT, Tserel L, Link M, Kisand KV. et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med 2010; 207: 299-308.10.1084/jem.20091669282260520123959Search in Google Scholar

8. Podkrajsek KT, Milenković T, Odink RJ, Claasen-van der Grinten HL, Bratanic N, Hovnik T. et al. Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1. Eur J Endocrinol 2008; 159: 633-9.10.1530/EJE-08-032818682433Search in Google Scholar

9. 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: 1829-36.10.1056/NEJM1990062832226012348835Search in Google Scholar

10. Kärner J, Meager A, Laan M, Maslovskaja J, Pihlap M, Remm A. et al. Anti-cytokine autoantibodies suggest pathogenetic links with autoimmune regulator deficiency in humans and mice.Clin Exp Immunol 2013; 171: 263-72.10.1111/cei.12024356953323379432Search in Google Scholar

11. Millar S, Carson D. Clinical phenotypes of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy seen in the Northern Ireland paediatric population over the last 30 years. Ulster Med J 2012; 81: 118-22.Search in Google Scholar

12. Betterle C, Greggio NA, Volpato M. Autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1998; 83: 1049-55.10.1210/jcem.83.4.46829543115Search in Google Scholar

13. Wolf ASB, Erichsen MM, Meager A, Magitta NF, Myhre AG, Bollerslev J. et al. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in autoimmune regulator gene. J Clin Endocrinol Metab 2007; 92: 595-603.10.1210/jc.2006-187317118990Search in Google Scholar

14. Zlotogora J, Shapiro MS. Polyglandular autoimmune syndrome type 1 among Iranian Jews. J Med Genet 1992; 29: 824-6.10.1136/jmg.29.11.82410161811453436Search in Google Scholar

15. Husebye ES, Perheentupa J, Rautemaa R, Kampe O. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. J Intern Med 2009; 265: 514-29.10.1111/j.1365-2796.2009.02090.x19382991Search in Google Scholar

16. Ward L, Paquette J, Seidman E, Huot C, Alvarez F, Crock P. 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: 844-52.10.1210/jc.84.3.844Search in Google Scholar

17. Pun T, Chandurkar V. Growth hormone deficiency, short stature, and juvenile rheumatoid arthritis in a patient with autoimmune polyglandular syndrome type 1: case report and brief review of the literature. ISRN Endocrinology 2011: 462759.10.5402/2011/462759326265122363878Search in Google Scholar

18. Högenauer C, Meyer RL, Netto GJ, Bell D, Little KH, Ferries L. et al. Malabsorption due to cholecystokinin deficiency in a patient with autoimmune polyglandular syndrome type I. N Engl J Med 2001; 344: 270-4.10.1056/NEJM20010125344040511172154Search in Google Scholar

19. Scarpa R, Alaggio R, Norberto L, Furmaniak J, Chen S, Smith BR. et al.Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 2013; 98: 704-12.10.1210/jc.2012-273423365130Search in Google Scholar

20. Posovszky C, Lahr G, von Schnurbein J, Buderus S, Findeisen A, Schröder C. et al. Loss of enteroendocrine cells in autoimmunepolyendocrine- candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction. J Clin Endocrinol Metab 2012; 97: E292-300.10.1210/jc.2011-204422162465Search in Google Scholar

21. Padeh S, Theodor R, Jonas A, Passwell JH. Severe malabsorption in autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy syndrome successfully treated with immunosuppression. Arch Dis Child 1997; 76: 532-4.10.1136/adc.76.6.53217172249245854Search in Google Scholar

22. Kluger N, Jokinen M, Krohn K, Rankl A. What is the burden of living with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) in 2012? A health-related quality-of-life assessement in Finnish patients. Clin Endocrinol 2013; 79: 134-41.10.1111/cen.1208723113742Search in Google Scholar

23. Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C. et al. Common mutations in autoimmune polyendocrinopathy-candidiasisectodermal dystrophy patients of different origins. Mol Endocrinol 1998; 12: 1112-9.10.1210/mend.12.8.01439717837Search in Google Scholar

24. Cihakova D, Trebusak K, Heino M, Fadeyev V, Tiulpakov A, Battelino T. et al. Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED. Hum Mutat 2001; 18: 225-32.10.1002/humu.117811524733Search in Google Scholar

25. Myhre AG, Halonen M, Eskelin P, Ekwall O, Hedstrand H, Rorsman F. et al. Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. Clin Endocrinol 2001; 54: 211-7.10.1046/j.1365-2265.2001.01201.x11207636Search in Google Scholar

26. Meloni A, Willcox N, Meager A, Atzeni M, Wolf ASB, Husebye ES. et al. Autoimmune poyglandular syndrome type 1: an extensive longitudinal study in Sardinian patients. J Clin Endocrinol Metab 2012; 97: 1114-24.10.1210/jc.2011-246122344197Search in Google Scholar

27. Wolff AS, Sarkadi AK, Maródi L, Kärner J, Orlova E, Oftedal BE. et al. Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood. J Clin Immunol 2013; 33: 1341-8.10.1007/s10875-013-9938-624158785Search in Google Scholar