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Volumn 19, Issue 11, 2006, Pages 1343-1352

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population

Author keywords

Adrenal insufficiency; AIRE gene; APECED; Chronic mucocutaneous candidiasis; Hypoparathyroidism

Indexed keywords

1ALPHA VITAMIN D; ANTIFUNGAL AGENT; CALCIUM; MINERALOCORTICOID; PARATHYROID HORMONE; VITAMIN D DERIVATIVE;

EID: 33845706149     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2006.19.11.1343     Document Type: Article
Times cited : (55)

References (40)
  • 1
    • 0028064998 scopus 로고
    • An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21
    • Aaltonen J, Björses P, Sandkuijl L, Perheentupa J, Peltonen L. An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet 1994; 8: 83-87.
    • (1994) Nat Genet , vol.8 , pp. 83-87
    • Aaltonen, J.1    Björses, P.2    Sandkuijl, L.3    Perheentupa, J.4    Peltonen, L.5
  • 2
    • 0030583302 scopus 로고    scopus 로고
    • Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular syndrome type I (APECED) region of chromosome 21q22.3
    • Nagamine K, Kudoh J, Minishima S, Kawasaki K, Asakawa S, Ito F, Shimizu N. Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular syndrome type I (APECED) region of chromosome 21q22.3. Biochem Biophys Res Commun 1996; 225: 608-616.
    • (1996) Biochem Biophys Res Commun , vol.225 , pp. 608-616
    • Nagamine, K.1    Kudoh, J.2    Minishima, S.3    Kawasaki, K.4    Asakawa, S.5    Ito, F.6    Shimizu, N.7
  • 3
    • 0021807826 scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): Autosomal recessive inheritance
    • Ahonen P. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): autosomal recessive inheritance. Clin Genet 1985; 27: 535-542.
    • (1985) Clin Genet , vol.27 , pp. 535-542
    • Ahonen, P.1
  • 4
    • 0036236464 scopus 로고    scopus 로고
    • The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components
    • Vogel A, Strassburg CP, Obermayer-Straub P, Brabant G, Manns MP. The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components. J Mol Med 2002; 80: 201-211.
    • (2002) J Mol Med , vol.80 , pp. 201-211
    • Vogel, A.1    Strassburg, C.P.2    Obermayer-Straub, P.3    Brabant, G.4    Manns, M.P.5
  • 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 N Am 2002; 31: 295-320.
    • (2002) Endocrinol Metab Clin N Am , vol.31 , pp. 295-320
    • Perheentupa, J.1
  • 6
    • 0025295238 scopus 로고
    • Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
    • 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.
    • (1990) N Engl J Med , vol.322 , pp. 1829-1836
    • Ahonen, P.1    Myllärniemi, S.2    Sipilä, I.3    Perheentupa, J.4
  • 8
    • 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: 824-826.
    • (1992) J Med Genet , vol.29 , pp. 824-826
    • Zlotogora, J.1    Shapiro, M.S.2
  • 9
    • 0025650533 scopus 로고
    • A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E
    • Syvänen AC, Aalto-Setälä K, Harju L, Kontula K, Söderlund H. A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 1990; 8: 684-692.
    • (1990) Genomics , vol.8 , pp. 684-692
    • Syvänen, A.C.1    Aalto-Setälä, K.2    Harju, L.3    Kontula, K.4    Söderlund, H.5
  • 12
    • 0032421986 scopus 로고    scopus 로고
    • Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)
    • 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.
    • (1998) Hum Genet , vol.103 , pp. 681-685
    • Wang, C.Y.1    Davoodi-Semiromi, A.2    Huang, W.3    Connor, E.4    Shi, J.D.5    She, J.X.6
  • 13
    • 17544385823 scopus 로고    scopus 로고
    • Characterization of regulatory elements and methylation pattern of the autoimmune regulator (AIRE) promoter
    • Murumägi A, Vähämurto P, Peterson P. Characterization of regulatory elements and methylation pattern of the autoimmune regulator (AIRE) promoter. J Biol Chem 2003; 278: 19784-19790.
    • (2003) J Biol Chem , vol.278 , pp. 19784-19790
    • Murumägi, A.1    Vähämurto, P.2    Peterson, P.3
  • 18
    • 1942506727 scopus 로고    scopus 로고
    • AIRE-1 (autoimmune regulator type 1) as a regulator of the thymic induction of negative selection
    • Park Y, Moon Y, Chung HY. AIRE-1 (autoimmune regulator type 1) as a regulator of the thymic induction of negative selection. Ann NY Acad Sci 2003; 1005: 431-435.
    • (2003) Ann NY Acad Sci , vol.1005 , pp. 431-435
    • Park, Y.1    Moon, Y.2    Chung, H.Y.3
  • 19
    • 2342458361 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndromes
    • Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. N Engl J Med 2004; 350: 2068-2079.
    • (2004) N Engl J Med , vol.350 , pp. 2068-2079
    • Eisenbarth, G.S.1    Gottlieb, P.A.2
  • 20
    • 0346599403 scopus 로고    scopus 로고
    • 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
    • Consortium TF-GA. 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.
    • (1997) Nat Genet , vol.17 , pp. 399-403
    • Consortium, T.F.-G.A.1
  • 23
    • 0242351857 scopus 로고    scopus 로고
    • Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmune polyendocrinopathy-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 autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies. J Clin Endocrinol Metab 2003; 88: 4576-4585.
    • (2003) J Clin Endocrinol Metab , vol.88 , 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
  • 24
    • 1542269618 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): A model disease to study molecular aspects of endocrine autoimmunity
    • Peterson P, Pitkänen J, Sillanpää N, Khron K. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity. Clin Exp Immunol 2004; 135: 348-357.
    • (2004) Clin Exp Immunol , vol.135 , pp. 348-357
    • Peterson, P.1    Pitkänen, J.2    Sillanpää, N.3    Khron, K.4
  • 25
    • 23844550138 scopus 로고    scopus 로고
    • Two novel mutations of the AIRE protein affecting its homodimerization properties
    • Meloni A, Fiorillo E, Corda D, Perniola R, Cao A, Rosatelly MC. Two novel mutations of the AIRE protein affecting its homodimerization properties. Hum Mutat 2005; 25: 319.
    • (2005) Hum Mutat , vol.25 , pp. 319
    • Meloni, A.1    Fiorillo, E.2    Corda, D.3    Perniola, R.4    Cao, A.5    Rosatelly, M.C.6
  • 33
    • 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
    • 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: 625-633.
    • (2002) Endocr J , vol.49 , 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
  • 37
    • 0033833151 scopus 로고    scopus 로고
    • Chronic bilateral keratitis in APECED. A long-term follow-up and visual prognosis
    • Merenmies L, Tarkkanen A. Chronic bilateral keratitis in APECED. A long-term follow-up and visual prognosis. Acta Ophthalmol Scand 2000; 78: 532-535.
    • (2000) Acta Ophthalmol Scand , vol.78 , pp. 532-535
    • Merenmies, L.1    Tarkkanen, A.2
  • 38
    • 0035096545 scopus 로고    scopus 로고
    • Corneal pathology and outcome of keratoplasty in APECED
    • Tarkkanen A, Merenmies L. Corneal pathology and outcome of keratoplasty in APECED. Acta Ophthalmol Scand 2001; 79: 204-207.
    • (2001) Acta Ophthalmol Scand , vol.79 , pp. 204-207
    • Tarkkanen, A.1    Merenmies, L.2
  • 39
    • 14644389444 scopus 로고    scopus 로고
    • Immunophenotypic characterisation of peripheral blood lymphocytes in autoimmune polyglandular syndrome type 1: Clinical study and review of the literature
    • Perniola R, Lobreglio G, Rosatelli MC, Pitotti E, Accogli E, De Rinaldis C. Immunophenotypic characterisation of peripheral blood lymphocytes in autoimmune polyglandular syndrome type 1: clinical study and review of the literature. J Pediatr Endocrinol Metab 2005; 18: 155-164.
    • (2005) J Pediatr Endocrinol Metab , vol.18 , pp. 155-164
    • Perniola, R.1    Lobreglio, G.2    Rosatelli, M.C.3    Pitotti, E.4    Accogli, E.5    De Rinaldis, C.6
  • 40
    • 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: 1088-1093.
    • (2006) Br J Dermatol , vol.154 , pp. 1088-1093
    • Collins, S.M.1    Dominguez, M.2    Ilmarinen, T.3    Costigan, C.4    Irvine, A.D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.