메뉴 건너뛰기




Volumn 7, Issue 2, 2009, Pages 15-28

Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy (APECED) - A diagnostic and therapeutic challenge

Author keywords

Adrenal failure; Autoimmune; Candidosis; Hepatitis; Hypoparathyroidism; Polyglandular; Prognosis

Indexed keywords

ALFACALCIDOL; AMPHOTERICIN B; AUTOANTIBODY; AUTOIMMUNE REGULATOR PROTEIN; CALCITRIOL; CALCIUM; CALCIUM ACETATE; CALCIUM CARBONATE; CHLORHEXIDINE; CITRATE CALCIUM; COLECALCIFEROL; DEXAMETHASONE; DIHYDROTACHYSTEROL; ECHINOCANDIN; ERGOCALCIFEROL; FLUCONAZOLE; FLUDROCORTISONE ACETATE; GLUTAMATE DECARBOXYLASE 65 ANTIBODY; HYDROCORTISONE; INTERFERON ANTIBODY; INTERFERON OMEGA ANTIBODY; NATAMYCIN; NYSTATIN; PARATHYROID HORMONE[1-34]; POTASSIUM CHLORIDE; POTASSIUM SPARING DIURETIC AGENT; PREDNISOLONE; PREDNISONE; THIAZIDE DIURETIC AGENT; UNCLASSIFIED DRUG; UNINDEXED DRUG;

EID: 78650021702     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (11)

References (115)
  • 2
    • 0346599403 scopus 로고    scopus 로고
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
    • Finnish-German APECED Consortium
    • Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet. 1997;17(4):399-403
    • (1997) Nat Genet , vol.17 , Issue.4 , pp. 399-403
  • 3
    • 2342458361 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndromes
    • Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. N Engl J Med 2004;350(20):2068-2079
    • (2004) N Engl J Med , vol.350 , Issue.20 , pp. 2068-2079
    • Eisenbarth, G.S.1    Gottlieb, P.A.2
  • 4
    • 0025295238 scopus 로고
    • Clinical variation of autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED) in a series of 68 patients
    • 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(26):1829-1836
    • (1990) N Engl J Med , vol.322 , Issue.26 , pp. 1829-1836
    • Ahonen, P.1    Myllarniemi, S.2    Sipila, I.3    Perheentupa, J.4
  • 5
    • 0036081840 scopus 로고    scopus 로고
    • APS-I/APECED: The clinical disease and therapy
    • Perheentupa J. APS-I/APECED: the clinical disease and therapy. Endocrinol Metab Clin North Am 2002;31(2):295-320
    • (2002) Endocrinol Metab Clin North Am , vol.31 , Issue.2 , pp. 295-320
    • Perheentupa, J.1
  • 6
    • 33747662305 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 2006;91(8):2843-2850
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.8 , pp. 2843-2850
    • Perheentupa, J.1
  • 7
    • 0026481974 scopus 로고
    • Polyglandular autoimmune syndrome type I among Iranian Jews
    • Zlotogora J, Shapiro MS. Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 1992;29(11):824-826
    • (1992) J Med Genet , vol.29 , Issue.11 , pp. 824-826
    • Zlotogora, J.1    Shapiro, M.S.2
  • 11
    • 33748299062 scopus 로고    scopus 로고
    • Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: Novel AIRE mutations and an estimate of disease prevalence
    • DOI 10.1111/j.1399-0004.2006.00690.x
    • Stolarski B, Pronicka E, Korniszewski L, Pollak A, Kostrzewa G, Rowinska E, Wlodarski P, Skorka A, Gremida M, Krajewski P, Ploski R. Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence. Clin Genet 2006;70(4):348-354 (Pubitemid 44323402)
    • (2006) Clinical Genetics , vol.70 , Issue.4 , pp. 348-354
    • Stolarski, B.1    Pronicka, E.2    Korniszewski, L.3    Pollak, A.4    Kostrzewa, G.5    Rowinska, E.6    Wlodarski, P.7    Skorka, A.8    Gremida, M.9    Krajewski, P.10    Ploski, R.11
  • 12
    • 64549115221 scopus 로고    scopus 로고
    • Clinical review 93: Autoimmune polyglandular syndrome type 1
    • Betterle C, Greggio NA, Volpato M. Clinical review 93: autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1998;83(4):1049-1055
    • (1998) J Clin Endocrinol Metab , vol.83 , Issue.4 , pp. 1049-1055
    • Betterle, C.1    Greggio, N.A.2    Volpato, M.3
  • 13
    • 0030931352 scopus 로고    scopus 로고
    • High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH
    • Aaltonen J, Horelli-Kuitunen N, Fan JB, Bjorses P, Perheentupa J, Myers R, Palotie A, Peltonen L. High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH. Genome Res 1997;7(8):820-829
    • (1997) Genome Res , vol.7 , Issue.8 , pp. 820-829
    • Aaltonen, J.1    Horelli-Kuitunen, N.2    Fan, J.B.3    Bjorses, P.4    Perheentupa, J.5    Myers, R.6    Palotie, A.7    Peltonen, L.8
  • 17
    • 0032754773 scopus 로고    scopus 로고
    • Expression and alternative splicing of the mouse autoimmune regulator gene (aire)
    • Ruan QG, Wang CY, Shi JD, She JX. Expression and alternative splicing of the mouse autoimmune regulator gene (aire). J Autoimmun 1999;13(3):307-313
    • (1999) J Autoimmun , vol.13 , Issue.3 , pp. 307-313
    • Ruan, Q.G.1    Wang, C.Y.2    Shi, J.D.3    She, J.X.4
  • 18
    • 0034662906 scopus 로고    scopus 로고
    • Normal thymic architecture and negative selection are associated with Aire expression, the gene defective in the autoimmune-polyendocrinopathy- Candidiasis-ectodermal dystrophy (APECED)
    • Zuklys S, Batciunaite 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(4):1976-1983 (Pubitemid 30648747)
    • (2000) Journal of Immunology , vol.165 , Issue.4 , pp. 1976-1983
    • Zuklys, S.1    Balciunaite, G.2    Agarwal, A.3    Fasler-Kan, E.4    Palmer, E.5    Hollander, G.A.6
  • 20
    • 33646165128 scopus 로고    scopus 로고
    • A central role for central tolerance
    • Kyewski B, Klein L. A central role for central tolerance. Annu Rev Immunol 2006;24:571-606
    • (2006) Annu Rev Immunol , vol.24 , pp. 571-606
    • Kyewski, B.1    Klein, L.2
  • 22
    • 0037383758 scopus 로고    scopus 로고
    • Aire regulates negative selection of organ-specific T cells
    • DOI 10.1038/ni906
    • Liston A, Lesage S, Wilson J, Peltonen L, Goodnow CC. Aire regulates negative selection of organ-specific T cells. Nat Immunol 2003;4(4):350-354 (Pubitemid 36432317)
    • (2003) Nature Immunology , vol.4 , Issue.4 , pp. 350-354
    • Liston, A.1    Lesage, S.2    Wilson, J.3    Peltonen, L.4    Goodnow, C.C.5
  • 31
    • 33746421486 scopus 로고    scopus 로고
    • Anti-interferon auto-antibodies in autoimmune polyendocrinopathy syndrome type 1
    • Levin M. Anti-interferon auto-antibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Med 2006;3(7):e292
    • (2006) PLoS Med , vol.3 , Issue.7
    • Levin, M.1
  • 32
  • 36
    • 0344931627 scopus 로고    scopus 로고
    • Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1
    • Ekwall O, Sjoberg K, Mirakian R, Rorsman F, Kampe O. Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1. Lancet 1999;354(9178):568
    • (1999) Lancet , vol.354 , Issue.9178 , pp. 568
    • Ekwall, O.1    Sjoberg, K.2    Mirakian, R.3    Rorsman, F.4    Kampe, O.5
  • 37
    • 0030837075 scopus 로고    scopus 로고
    • Cytochrome P450IA2 and aromatic L-amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type I
    • DOI 10.1016/S0014-5793(97)00797-7, PII S0014579397007977
    • Gebre-Medhin G, Husebye ES, Gustafsson J, Winqvist O, Goksoyr A, Rorsman F, Kampe O. Cytochrome P450IA2 and aromatic L-amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type I. FEBS Lett 1997;412(3):439-445 (Pubitemid 27337086)
    • (1997) FEBS Letters , vol.412 , Issue.3 , pp. 439-445
    • Gebre-Medhin, G.1    Husebye, E.S.2    Gustafsson, J.3    Winqvist, O.4    Goksoyr, A.5    Rorsman, F.6    Kampe, O.7
  • 41
    • 23844507752 scopus 로고    scopus 로고
    • 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
    • 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(8):4930-4935
    • (2005) J Clin Endocrinol Metab , vol.90 , Issue.8 , pp. 4930-4935
    • Podkrajsek, K.T.1    Bratanic, N.2    Krzisnik, C.3    Battelino, T.4
  • 45
    • 0242536432 scopus 로고    scopus 로고
    • Mutations in the AIRE gene: Effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy protein
    • Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Eltonen 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(2):378-392
    • (2000) Am J Hum Genet , vol.66 , Issue.2 , pp. 378-392
    • Bjorses, P.1    Halonen, M.2    Palvimo, J.J.3    Kolmer, M.4    Aaltonen, J.5    Eltonen, P.6    Perheentupa, J.7    Ulmanen, I.8    Peltonen, L.9
  • 48
    • 0036088348 scopus 로고    scopus 로고
    • Population genetics and functions of the autoimmune regulator (AIRE)
    • DOI 10.1016/S0889-8529(01)00011-1, PII S0889852901000111
    • Kumar PG, Laloraya M, She JX. Population genetics and functions of the autoimmune regulator (AIRE). Endocrinol Metab Clin North Am 2002;31(2):321-338 (Pubitemid 34680180)
    • (2002) Endocrinology and Metabolism Clinics of North America , vol.31 , Issue.2 , pp. 321-338
    • Kumar, P.G.1    Laloraya, M.2    She, J.-X.3
  • 49
    • 0034749749 scopus 로고    scopus 로고
    • 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
    • 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(10):4747-4752
    • (2001) J Clin Endocrinol Metab , vol.86 , Issue.10 , pp. 4747-4752
    • Cetani, F.1    Barbesino, G.2    Borsari, S.3    Pardi, E.4    Cianferotti, L.5    Pinchera, A.6    Marcocci, C.7
  • 50
  • 51
    • 33646591901 scopus 로고    scopus 로고
    • Dermatological manifestations of autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy syndrome
    • Collins SM, Dominguez M, Ilmarinen T, Costigan C, Irvine AD. Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy syndrome. Br J Dermatol 2006;154(6):1088-1093
    • (2006) Br J Dermatol , vol.154 , Issue.6 , pp. 1088-1093
    • Collins, S.M.1    Dominguez, M.2    Ilmarinen, T.3    Costigan, C.4    Irvine, A.D.5
  • 53
    • 34249805682 scopus 로고    scopus 로고
    • Oral and oesophageal squamous cell carcinoma - A complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I)
    • Rautemaa R, Hietanen J, Niissalo S, Pinnen S, Perheentupa J. Oral and oesophageal squamous cell carcinoma - a complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I). Oral Oncol 2007;43(6):607-613
    • (2007) Oral Oncol , vol.43 , Issue.6 , pp. 607-613
    • Rautemaa, R.1    Hietanen, J.2    Niissalo, S.3    Pinnen, S.4    Perheentupa, J.5
  • 54
    • 58149316653 scopus 로고    scopus 로고
    • Chronic candidosis and oral cancer in APECED-patients: Production of carcinogenic acetaldehyde from glucose and ethanol by Candida albicans
    • Uittamo J, Siikala E, Kaihovaara P, Salaspuro M, Rautemaa R. Chronic candidosis and oral cancer in APECED-patients: Production of carcinogenic acetaldehyde from glucose and ethanol by Candida albicans. Int J Cancer 2009;124(3):754-756
    • (2009) Int J Cancer , vol.124 , Issue.3 , pp. 754-756
    • Uittamo, J.1    Siikala, E.2    Kaihovaara, P.3    Salaspuro, M.4    Rautemaa, R.5
  • 55
    • 34548728515 scopus 로고    scopus 로고
    • Decreased susceptibility of Candida albicans to azole antifungals: A complication of long-term treatment in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED) patients
    • Rautemaa R, Richardson M, Pfaller M, Koukita-Kahkota P, Perheentupa J, Saxen H. Decreased susceptibility of Candida albicans to azole antifungals: a complication of long-term treatment in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED) patients. J Antimicrob Chemother 2007;60(4):889-892
    • (2007) J Antimicrob Chemother , vol.60 , Issue.4 , pp. 889-892
    • Rautemaa, R.1    Richardson, M.2    Pfaller, M.3    Koukita-Kahkota, P.4    Perheentupa, J.5    Saxen, H.6
  • 56
    • 57049101467 scopus 로고    scopus 로고
    • Reduction of fluconazole susceptibility of Candida albicans in APECED patients due to long-term use of ketoconazole and miconazole
    • Rautemaa R, Richardson M, Pfaller M, Perheentupa J, Saxen H. Reduction of fluconazole susceptibility of Candida albicans in APECED patients due to long-term use of ketoconazole and miconazole. Scand J Infect Dis 2008;40(11-12):904-907
    • (2008) Scand J Infect Dis , vol.40 , Issue.11-12 , pp. 904-907
    • Rautemaa, R.1    Richardson, M.2    Pfaller, M.3    Perheentupa, J.4    Saxen, H.5
  • 57
    • 51649120783 scopus 로고    scopus 로고
    • Activity of amphotericin B, anidulafungin, caspofungin, micafungin, posaconazole, and voriconazole against Candida albicans with decreased susceptibility to fluconazole from APECED patients on long-term azole treatment of chronic mucocutaneous candidiasis
    • Rautemaa R, Richardson M, Pfaller MA, Perheentupa J, Saxen H. Activity of amphotericin B, anidulafungin, caspofungin, micafungin, posaconazole, and voriconazole against Candida albicans with decreased susceptibility to fluconazole from APECED patients on long-term azole treatment of chronic mucocutaneous candidiasis. Diagn Microbiol Infect Dis 2008;62(2):182-185
    • (2008) Diagn Microbiol Infect Dis , vol.62 , Issue.2 , pp. 182-185
    • Rautemaa, R.1    Richardson, M.2    Pfaller, M.A.3    Perheentupa, J.4    Saxen, H.5
  • 58
    • 47949092540 scopus 로고    scopus 로고
    • Clinical practice. hypoparathyroidism
    • Shoback D. Clinical practice. hypoparathyroidism. N Engl J Med 2008;359(4):391-403
    • (2008) N Engl J Med , vol.359 , Issue.4 , pp. 391-403
    • Shoback, D.1
  • 59
    • 0034700450 scopus 로고    scopus 로고
    • Hyperparathyroid and hypoparathyroid disorders
    • Marx SJ. Hyperparathyroid and hypoparathyroid disorders. N Engl J Med 2000;343(25):1863-1875
    • (2000) N Engl J Med , vol.343 , Issue.25 , pp. 1863-1875
    • Marx, S.J.1
  • 60
    • 0029798867 scopus 로고    scopus 로고
    • Synthetic human parathyroid hormone 1-34 vs calcitriol and calcium in the treatment of hypoparathyroidism
    • Winer KK, Yanovski JA, Cutler GB, Jr. Synthetic human parathyroid hormone 1-34 vs calcitriol and calcium in the treatment of hypoparathyroidism. JAMA 1996;276(8):631-636
    • (1996) JAMA , vol.276 , Issue.8 , pp. 631-636
    • Winer, K.K.1    Yanovski, J.A.2    Cutler Jr., G.B.3
  • 61
    • 0031773242 scopus 로고    scopus 로고
    • A randomized, cross-over trial of once-daily versus twice-daily parathyroid hormone 1-34 in treatment of hypoparathyroidism
    • DOI 10.1210/jc.83.10.3480
    • Winer KK, Yanovski JA, Sarani B, Cutler GB,Jr. A randomized, cross-over trial of once-daily versus twice-daily parathyroid hormone 1-34 in treatment of hypoparathyroidism. J Clin Endocrinol Metab 1998;83(10):3480-3486 (Pubitemid 28500875)
    • (1998) Journal of Clinical Endocrinology and Metabolism , vol.83 , Issue.10 , pp. 3480-3486
    • Winer, K.K.1    Yanovski, J.A.2    Sarani, B.3    Cutler Jr., G.B.4
  • 62
    • 0034830270 scopus 로고    scopus 로고
    • Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34
    • Koch CA. Rapid increase in bone mineral density in a child with osteoporosis and autoimmune hypoparathyroidism treated with PTH 1-34. Exp Clin Endocrinol Diabetes 2001;109(6):350-354
    • (2001) Exp Clin Endocrinol Diabetes , vol.109 , Issue.6 , pp. 350-354
    • Koch, C.A.1
  • 64
    • 36048988750 scopus 로고    scopus 로고
    • Development of PTH Eluting Microspheres for the Treatment of Hypoparathyroidism
    • DOI 10.1016/j.jss.2006.04.009, PII S0022480406001818
    • Fong P, Goyal A, Brennan M, Park J, Moss L, Saltzman WM, Breuer CK. Development of PTH eluting microspheres for the treatment of hypoparathyroidism. J Surg Res 2007;143(2):195-199 (Pubitemid 350101554)
    • (2007) Journal of Surgical Research , vol.143 , Issue.2 , pp. 195-199
    • Fong, P.1    Goyal, A.2    Brennan, M.3    Park, J.4    Moss, L.5    Saltzman, W.M.6    Breuer, C.K.7
  • 65
    • 51649100312 scopus 로고    scopus 로고
    • Effects of once versus twice-daily parathyroid hormone 1-34 therapy in children with hypoparathyroidism
    • Winer KK, Sinaii N, Peterson D, Sainz B,Jr, Cutler GB,Jr. Effects of once versus twice-daily parathyroid hormone 1-34 therapy in children with hypoparathyroidism. J Clin Endocrinol Metab 2008;93(9):3389-3395
    • (2008) J Clin Endocrinol Metab , vol.93 , Issue.9 , pp. 3389-3395
    • Winer, K.K.1    Sinaii, N.2    Peterson, D.3    Sainz Jr., B.4    Cutler Jr., G.B.5
  • 66
    • 84995870568 scopus 로고
    • Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease
    • 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 II and in isolated Addison's disease. J Clin Endocrinol Metab 1994;78(2):323-328
    • (1994) J Clin Endocrinol Metab , vol.78 , Issue.2 , pp. 323-328
    • Uibo, R.1    Aavik, E.2    Peterson, P.3    Perheentupa, J.4    Aranko, S.5    Pelkonen, R.6    Krohn, K.J.7
  • 67
  • 68
    • 0023138282 scopus 로고
    • Adrenal and steroidal cell antibodies in patients with autoimmune polyglandular disease type I and risk of adrenocortical and ovarian failure
    • 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 Metab 1987;64(3):494-500
    • (1987) J Clin Endocrinol Metab , vol.64 , Issue.3 , pp. 494-500
    • Ahonen, P.1    Miettinen, A.2    Perheentupa, J.3
  • 69
    • 0021056840 scopus 로고
    • The diagnosis and staging of hypocortisolism in progressing autoimmune adrenalitis
    • Leisti S, Ahonen P, Perheentupa J. The diagnosis and staging of hypocortisolism in progressing autoimmune adrenalitis. Pediatr Res 1983;17(11):861-867 (Pubitemid 14231111)
    • (1983) Pediatric Research , vol.17 , Issue.11 , pp. 861-867
    • Leisti, S.1    Ahonen, P.2    Perheentupa, J.3
  • 70
    • 29644439025 scopus 로고    scopus 로고
    • Characterization of the humoral immune response to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED) and/or type 1 diabetes
    • Ronkainen MS, Harkonen T, Perheentupa J, Knip M. Characterization of the humoral immune response to glutamic acid decarboxylase in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and/or type 1 diabetes. Eur J Endocrinol 2005;153(6):901-906
    • (2005) Eur J Endocrinol , vol.153 , Issue.6 , pp. 901-906
    • Ronkainen, M.S.1    Harkonen, T.2    Perheentupa, J.3    Knip, M.4
  • 73
    • 0033772333 scopus 로고    scopus 로고
    • Organ-specific and non-organ-specific autoantibodies in children and young adults with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
    • 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(4):497-503
    • (2000) Eur J Endocrinol , vol.143 , Issue.4 , pp. 497-503
    • Perniola, R.1    Falorni, A.2    Clemente, M.G.3    Forini, F.4    Accogli, E.5    Lobreglio, G.6
  • 74
    • 0034252936 scopus 로고    scopus 로고
    • Growth hormone deficiency in autoimmune polyglandular disease type 1
    • Al-Herbish AS, Bailey JD, Kooh SW. Growth hormone deficiency in autoimmune polyglandular disease type 1. Saudi Med J 2000;21(8):765-768
    • (2000) Saudi Med J , vol.21 , Issue.8 , pp. 765-768
    • Al-Herbish, A.S.1    Bailey, J.D.2    Kooh, S.W.3
  • 76
    • 0033368523 scopus 로고    scopus 로고
    • Growth hormone deficiency in APECED
    • Faustini-Fustini M. Growth hormone deficiency in APECED. J Endocrinol Invest 1999;22(11):886
    • (1999) J Endocrinol Invest , vol.22 , Issue.11 , pp. 886
    • Faustini-Fustini, M.1
  • 77
    • 0034906534 scopus 로고    scopus 로고
    • Autoimmune polyglandular endocrinopathy and anterior hypophysitis in a 14 year-old girl presenting with delayed puberty
    • Cemeroglu AP, Bober E, Dundar B, Buyukgebiz A. Autoimmune polyglandular endocrinopathy and anterior hypophysitis in a 14 year-old girl presenting with delayed puberty. J Pediatr Endocrinol Metab 2001;14(7):909-914
    • (2001) J Pediatr Endocrinol Metab , vol.14 , Issue.7 , pp. 909-914
    • Cemeroglu, A.P.1    Bober, E.2    Dundar, B.3    Buyukgebiz, A.4
  • 78
  • 79
    • 0032988183 scopus 로고    scopus 로고
    • Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: Response to immunosuppressive therapy
    • Ward L, Paquette J, Seidman E, Huot C, Alvarez F, Crock P, Delvin E, Kampe O, Deal C. 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(3):844-852
    • (1999) J Clin Endocrinol Metab , vol.84 , Issue.3 , pp. 844-852
    • Ward, L.1    Paquette, J.2    Seidman, E.3    Huot, C.4    Alvarez, F.5    Crock, P.6    Delvin, E.7    Kampe, O.8    Deal, C.9
  • 82
    • 0036252109 scopus 로고    scopus 로고
    • Orthotopic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1
    • Smith D, Stringer MD, Wyatt J, O'Meara M, Davison S, Cheetham TD, McClean P. Orthotopic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1. Pediatr Transplant 2002;6(2):166-170
    • (2002) Pediatr Transplant , vol.6 , Issue.2 , pp. 166-170
    • Smith, D.1    Stringer, M.D.2    Wyatt, J.3    O'Meara, M.4    Davison, S.5    Cheetham, T.D.6    McClean, P.7
  • 84
    • 0029781657 scopus 로고    scopus 로고
    • Liver disease in polyglandular autoimmune disease type one: Clinicopathologic study of three patients and review of the literature
    • DOI 10.1080/107710496175552
    • Goldstein NS, Rosenthal P, Sinatra F, Dehner LP. Liver disease in polyglandular autoimmune disease type one: Clinicopathologic study of three patients and review of the literature. Pediatr Pathol Lab Med 1996;16(4):625-636 (Pubitemid 26268693)
    • (1996) Pediatric Pathology and Laboratory Medicine , vol.16 , Issue.4 , pp. 625-636
    • Goldstein, N.S.1    Rosenthal, P.2    Sinatra, F.3    Dehner, L.P.4
  • 88
    • 0025940829 scopus 로고
    • Autoimmune polyendocrine candidiasis syndrome with associated chronic diarrhea caused by intestinal infection and pancreas insufficiency
    • Scire G, Magliocca FM, Cianfarani S, Scalamandre A, Petrozza V, Bonamico M. Autoimmune polyendocrine candidiasis syndrome with associated chronic diarrhea caused by intestinal infection and pancreas insufficiency. J Pediatr Gastroenterol Nutr 1991;13(2):224-227
    • (1991) J Pediatr Gastroenterol Nutr , vol.13 , Issue.2 , pp. 224-227
    • Scire, G.1    Magliocca, F.M.2    Cianfarani, S.3    Scalamandre, A.4    Petrozza, V.5    Bonamico, M.6
  • 89
    • 2942752294 scopus 로고    scopus 로고
    • A patient with a polyglandular autoimmune syndrome involving the salivary glands, thyroid, intestine, and pancreas
    • Buchman AL, Rao SM. A patient with a polyglandular autoimmune syndrome involving the salivary glands, thyroid, intestine, and pancreas. Dig Dis Sci 2004;49(4):590-593
    • (2004) Dig Dis Sci , vol.49 , Issue.4 , pp. 590-593
    • Buchman, A.L.1    Rao, S.M.2
  • 90
    • 0028962635 scopus 로고
    • Intestinal lymphangiectasia in a patient with autoimmune polyglandular disease type I and steatorrhea
    • Bereket A, Lowenheim M, Blethen SL, Kane P, Wilson TA. Intestinal lymphangiectasia in a patient with autoimmune polyglandular disease type I and steatorrhea. J Clin Endocrinol Metab 1995;80(3):933-935
    • (1995) J Clin Endocrinol Metab , vol.80 , Issue.3 , pp. 933-935
    • Bereket, A.1    Lowenheim, M.2    Blethen, S.L.3    Kane, P.4    Wilson, T.A.5
  • 91
    • 43049096047 scopus 로고    scopus 로고
    • Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: A report of 2 cases
    • Makharia GK, Tandon N, Stephen Nde J, Gupta SD, Tandon RK. Primary intestinal lymphangiectasia as a component of autoimmune polyglandular syndrome type I: a report of 2 cases. Indian J Gastroenterol 2007;26(6):293-295 (Pubitemid 351629635)
    • (2007) Indian Journal of Gastroenterology , vol.26 , Issue.6 , pp. 293-295
    • Makharia, G.K.1    Tandon, N.2    Stephen, N.D.J.R.3    Gupta, S.D.4    Tandon, R.K.5
  • 92
    • 0030841659 scopus 로고    scopus 로고
    • Severe malabsorption in autoimmune polyendocrinopathy-candidosis- Ectodermal dystrophy syndrome successfully treated with immunosuppression
    • 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(6):532-534 (Pubitemid 27334725)
    • (1997) Archives of Disease in Childhood , vol.76 , Issue.6 , pp. 532-534
    • Padeh, S.1    Theodor, R.2    Jonas, A.3    Passwell, J.H.4
  • 94
    • 26444555981 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy presenting with severe keratopathy in an Egyptian patient with a homozygous R139X mutation
    • Tawfik S, Azim MA, Peterson P, Donaldson MD. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy presenting with severe keratopathy in an Egyptian patient with a homozygous R139X mutation. Horm Res 2005;64(2):96-99
    • (2005) Horm Res , vol.64 , Issue.2 , pp. 96-99
    • Tawfik, S.1    Azim, M.A.2    Peterson, P.3    Donaldson, M.D.4
  • 95
    • 0033833151 scopus 로고    scopus 로고
    • Chronic bilateral keratitis in autoimmune polyendocrinopathy-candidiadis- ectodermal dystrophy (APECED). A long-term follow-up and visual prognosis
    • Merenmies L, Tarkkanen A. Chronic bilateral keratitis in autoimmune polyendocrinopathy-candidiadis-ectodermal dystrophy (APECED). A long-term follow-up and visual prognosis. Acta Ophthalmol Scand 2000;78(5):532-535
    • (2000) Acta Ophthalmol Scand , vol.78 , Issue.5 , pp. 532-535
    • Merenmies, L.1    Tarkkanen, A.2
  • 96
    • 0035096545 scopus 로고    scopus 로고
    • Corneal pathology and outcome of keratoplasty in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
    • Tarkkanen A, Merenmies L. Corneal pathology and outcome of keratoplasty in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Acta Ophthalmol Scand 2001;79(2):204-207
    • (2001) Acta Ophthalmol Scand , vol.79 , Issue.2 , pp. 204-207
    • Tarkkanen, A.1    Merenmies, L.2
  • 97
    • 34547458622 scopus 로고    scopus 로고
    • Resolution of autoimmune polyglandular syndrome-associated keratopathy with keratolimbal stem cell transplantation: Case report and historical literature review
    • Shah M, Holland E, Chan CC. Resolution of autoimmune polyglandular syndrome-associated keratopathy with keratolimbal stem cell transplantation: case report and historical literature review. Cornea 2007;26(5):632-635
    • (2007) Cornea , vol.26 , Issue.5 , pp. 632-635
    • Shah, M.1    Holland, E.2    Chan, C.C.3
  • 99
    • 0018191896 scopus 로고
    • Oral findings in the autoimmune polyendocrinopathy-candidosis syndrome (APECS) and other forms of hypoparathyroidism
    • DOI 10.1016/0030-4220(78)90147-0
    • Myllarniemi S, Perheentupa J. Oral findings in the autoimmune polyendocrinopathy-candidosis syndrome (APECS) and other forms of hypoparathyroidism. Oral Surg Oral Med Oral Pathol 1978;45(5):721-729 (Pubitemid 8344425)
    • (1978) Oral Surgery Oral Medicine and Oral Pathology , vol.45 , Issue.5 , pp. 721-729
    • Myllarniemi, S.1    Perheentupa, J.2
  • 100
    • 0032126065 scopus 로고    scopus 로고
    • Assessment of enamel hypoplasia in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy (APECED)
    • Perniola R, Tamborrino G, Marsigliante S, De Rinaldis C. Assessment of enamel hypoplasia in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). J Oral Pathol Med 1998;27(6):278-282
    • (1998) J Oral Pathol Med , vol.27 , Issue.6 , pp. 278-282
    • Perniola, R.1    Tamborrino, G.2    Marsigliante, S.3    De Rinaldis, C.4
  • 104
    • 33645967778 scopus 로고    scopus 로고
    • Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): Findings in 25 adults
    • Oxf
    • Makitie O, Sochett EB, Bondestam S, Sipila I, Perheentupa J. Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): findings in 25 adults. Clin Endocrinol (Oxf) 2006;64(5):489-494
    • (2006) Clin Endocrinol , vol.64 , Issue.5 , pp. 489-494
    • Makitie, O.1    Sochett, E.B.2    Bondestam, S.3    Sipila, I.4    Perheentupa, J.5
  • 105
    • 0242351857 scopus 로고    scopus 로고
    • Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: Clinical and molecular studies
    • Harris M, Kecha O, Deal C, Howlett CR, Deiss D, Tobias V, Simoneau-Roy J, Walker J. Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies. J Clin Endocrinol Metab 2003;88(10):4576-4585
    • (2003) J Clin Endocrinol Metab , vol.88 , Issue.10 , pp. 4576-4585
    • Harris, M.1    Kecha, O.2    Deal, C.3    Howlett, C.R.4    Deiss, D.5    Tobias, V.6    Simoneau-Roy, J.7    Walker, J.8
  • 106
    • 56749169403 scopus 로고    scopus 로고
    • 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
    • Podkrajsek KT, Milenkovic T, Odink RJ, Claasen-van der Grinten HL, Bratanic N, Hovnik T, Battelino T. 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(5):633-639
    • (2008) Eur J Endocrinol , vol.159 , Issue.5 , pp. 633-639
    • Podkrajsek, K.T.1    Milenkovic, T.2    Odink, R.J.3    Claasen-van Der Grinten, H.L.4    Bratanic, N.5    Hovnik, T.6    Battelino, T.7
  • 109
    • 0036962339 scopus 로고    scopus 로고
    • A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: Case report and review of the literature in Japan
    • DOI 10.1507/endocrj.49.625
    • Sato K, Nakajima K, Imamura H, Deguchi T, Horinouchi S, Yamazaki K, Yamada E, Kanaji Y, Takano K. A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan. Endocr J 2002;49(6):625-633 (Pubitemid 36119582)
    • (2002) Endocrine Journal , vol.49 , Issue.6 , pp. 625-633
    • Sato, K.1    Nakajima, K.2    Imamura, H.3    Deguchi, T.4    Horinouchi, S.5    Yamazaki, K.6    Yamada, E.7    Kanaji, Y.8    Takano, K.9
  • 110
    • 58149089555 scopus 로고    scopus 로고
    • Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy
    • Valenzise M, Meloni A, Betterle C, Giometto B, Autunno M, Mazzeo A, Cao A, De Luca F. Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasis-ectodermal dystrophy. Eur J Pediatr 2009;168(2):237-240
    • (2009) Eur J Pediatr , vol.168 , Issue.2 , pp. 237-240
    • Valenzise, M.1    Meloni, A.2    Betterle, C.3    Giometto, B.4    Autunno, M.5    Mazzeo, A.6    Cao, A.7    De Luca, F.8
  • 111
    • 49649114637 scopus 로고    scopus 로고
    • Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE
    • Oxf
    • Capalbo D, Elefante A, Spagnuolo Ml, Mazza C, Betterle C, Pignata C, Salerno M. Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE. Clin Endocrinol (Oxf) 2008;69(3):511-513
    • (2008) Clin Endocrinol , vol.69 , Issue.3 , pp. 511-513
    • Capalbo, D.1    Elefante, A.2    Ml, S.3    Mazza, C.4    Betterle, C.5    Pignata, C.6    Salerno, M.7
  • 112
    • 39749093093 scopus 로고    scopus 로고
    • Chronic mucocutaneous candidiasis and oesophageal cancer
    • Rosa DD, Pasqualotto AC, Denning DW. Chronic mucocutaneous candidiasis and oesophageal cancer. Med Mycol 2008;46(1):85-91
    • (2008) Med Mycol , vol.46 , Issue.1 , pp. 85-91
    • Rosa, D.D.1    Pasqualotto, A.C.2    Denning, D.W.3
  • 114
    • 43149088454 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndrome type I in Slovakia: Relevance of screening patients with autoimmune Addison's disease
    • N FM, Pura M, A SBW, Vanuga P, Meager A, P MK, Husebye ES. Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. Eur J Endocrinol 2008;158(5):705-709
    • (2008) Eur J Endocrinol , vol.158 , Issue.5 , pp. 705-709
    • N, F.M.1    Pura, M.2    A, S.B.W.3    Vanuga, P.4    Meager, A.5    P, M.K.6    Husebye, E.S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.