메뉴 건너뛰기




Volumn 35, Issue 10, 2012, Pages 877-881

Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: Clinical, immunological and genetic patterns

Author keywords

Addison's disease; APECED; Autoimmune polyendocrine syndrome type1; Chronic candidiasis; Chronic hypoparathyroidism

Indexed keywords

AUTOANTIBODY;

EID: 84871878668     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.3275/8109     Document Type: Article
Times cited : (11)

References (34)
  • 1
    • 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. New Engl J Med 1990, 322: 1829-36. (Pubitemid 20200407)
    • (1990) New England Journal of Medicine , vol.322 , Issue.26 , pp. 1829-1836
    • Ahonen, P.1    Myllarniemi, S.2    Sipila, I.3    Perheentupa, J.4
  • 2
    • 64249161198 scopus 로고    scopus 로고
    • Clinical manifestation and management of patients with autoimmune polyendocrine syndrome type 1
    • Husebye ES, Perheentupa J, Rautemaa R, Kampe O. Clinical manifestation and management of patients with autoimmune polyendocrine syndrome type 1. J Intern Med 2009, 265: 514-29.
    • (2009) J Intern Med , vol.265 , pp. 514-529
    • Husebye, E.S.1    Perheentupa, J.2    Rautemaa, R.3    Kampe, O.4
  • 3
    • 0028064998 scopus 로고
    • An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21
    • DOI 10.1038/ng0994-83
    • 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: 83-7. (Pubitemid 24274065)
    • (1994) Nature Genetics , vol.8 , Issue.1 , pp. 83-87
    • Aaltonen, J.1    Bjorses, P.2    Sandkuijl, L.3    Perheentupa, J.4    Peltonen, L.5
  • 5
    • 0346599403 scopus 로고    scopus 로고
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Autoimmune Polyendocrinopathy- Candidiasis-Ectodermal Dystrophy
    • The Finnish-German APECED Consortium
    • 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.
    • (1997) Nat Genet , vol.17 , pp. 399-403
  • 9
    • 0032421986 scopus 로고    scopus 로고
    • Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1)
    • DOI 10.1007/s004390050891
    • 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: 681-5. (Pubitemid 29020764)
    • (1998) Human Genetics , vol.103 , Issue.6 , 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
  • 14
    • 0036236464 scopus 로고    scopus 로고
    • The genetic background of autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy and its autoimmune disease components
    • DOI 10.1007/s00109-001-0306-2
    • 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 (Berl) 2002, 80: 201-11. (Pubitemid 34439292)
    • (2002) Journal of Molecular Medicine , vol.80 , Issue.4 , pp. 201-211
    • Vogel, A.1    Strassburg, C.P.2    Obermayer-Straub, P.3    Brabant, G.4    Manns, M.P.5
  • 16
    • 0036171124 scopus 로고    scopus 로고
    • Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy
    • DOI 10.1210/jc.87.2.841
    • Meloni A, Perniola R, Faà V, Corvaglia E, Cao A, Rosatelli MC. Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy patients from Southern Italy. J Clin Endocrinol Metab 2002, 87: 841-6. (Pubitemid 34158261)
    • (2002) Journal of Clinical Endocrinology and Metabolism , vol.87 , Issue.2 , pp. 841-846
    • Meloni, A.1    Perniola, R.2    Faa, V.3    Corvaglia, E.4    Cao, A.5    Rosatelli, M.C.6
  • 17
    • 60349085274 scopus 로고    scopus 로고
    • Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ecto-dermal- dystrophy (APECED) and in their relatives
    • Cervato S, Mariniello B, Lazzarotto F, et al. Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ecto-dermal- dystrophy (APECED) and in their relatives. Clin Endocrinol (Oxf) 2009, 70: 421-8.
    • (2009) Clin Endocrinol (Oxf) , vol.70 , pp. 421-428
    • Cervato, S.1    Mariniello, B.2    Lazzarotto, F.3
  • 18
    • 51849147152 scopus 로고    scopus 로고
    • Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers
    • De Luca F, Valenzise M, Alaggio R, et al. Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers. Eur J Pediatr 2008, 167: 1283-8.
    • (2008) Eur J Pediatr , vol.167 , pp. 1283-1288
    • De Luca, F.1    Valenzise, M.2    Alaggio, R.3
  • 19
    • 84860259364 scopus 로고    scopus 로고
    • Autoimmune polyen-docrinopathy- candidiasis-ectodermal-dystrophy (APECED) in Sicily: Confirmation that R203X is the peculiar AIRE gene mutation
    • Giordano C, Modica R, Allotta ML, et al. Autoimmune polyen-docrinopathy- candidiasis-ectodermal-dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation. J Endocrinol Invest 2012, 35: 384-8.
    • (2012) J Endocrinol Invest , vol.35 , pp. 384-388
    • Giordano, C.1    Modica, R.2    Allotta, M.L.3
  • 20
    • 84862876939 scopus 로고    scopus 로고
    • Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopa-thy- candidiasis-ectodermal-distrophy patients from Campania and in their relatives
    • Capalbo D, Mazza C, Giordano R, et al. Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopa-thy- candidiasis-ectodermal-distrophy patients from Campania and in their relatives. J Endocrinol Invest 2012, 35: 169-73.
    • (2012) J Endocrinol Invest , vol.35 , pp. 169-173
    • Capalbo, D.1    Mazza, C.2    Giordano, R.3
  • 21
    • 0028672292 scopus 로고
    • Italian serum exchange workshop for the standardization of organ specific autoantibodies
    • ImmunoEndocrinology Study Group of the Italian Society of Endocrinology
    • Di Mario U, Betterle C, Dondero F, Fenzi GF, Mariotti S, Trimarchi F. Italian serum exchange workshop for the standardization of organ specific autoantibodies. ImmunoEndocrinology Study Group of the Italian Society of Endocrinology. J Endocrinol Invest 1994, 17: 355-65.
    • (1994) J Endocrinol Invest , vol.17 , pp. 355-365
    • Di Mario, U.1    Betterle, C.2    Dondero, F.3    Fenzi, G.F.4    Mariotti, S.5    Trimarchi, F.6
  • 25
    • 79959296572 scopus 로고    scopus 로고
    • New screening tests enrich anti-transglutaminase results and support a highly sensitive twotest based strategy for celiac disease diagnosis
    • Basso D, Guariso G, Bozzato D, et al. New screening tests enrich anti-transglutaminase results and support a highly sensitive twotest based strategy for celiac disease diagnosis. Clin Chim Acta 2011, 17: 1662-7.
    • (2011) Clin Chim Acta , vol.17 , pp. 1662-1667
    • Basso, D.1    Guariso, G.2    Bozzato, D.3
  • 27
    • 33747662305 scopus 로고    scopus 로고
    • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
    • DOI 10.1210/jc.2005-2611
    • Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 2006, 91: 2843-50. (Pubitemid 44271722)
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , Issue.8 , pp. 2843-2850
    • Perheentupa, J.1
  • 28
    • 79961220789 scopus 로고    scopus 로고
    • Premature ovarian failure in patients with autoimmune Addison's disease: Clinical, genetic, and immunological evaluation
    • Reato G, Morlin L, Chen S, et al. Premature ovarian failure in patients with autoimmune Addison's disease: clinical, genetic, and immunological evaluation. J Clin Endocrinol Metab 2011, 96: E1255-61.
    • (2011) J Clin Endocrinol Metab , vol.96
    • Reato, G.1    Morlin, L.2    Chen, S.3
  • 30
    • 51849158843 scopus 로고    scopus 로고
    • High prevalence of thyroid autoimmunity in Apulian patients with autoimmune polyglandular syndrome type 1
    • Perniola R, Filograna O, Greco G, Pellegrino V. High prevalence of thyroid autoimmunity in Apulian patients with autoimmune polyglandular syndrome type 1. Thyroid 2008, 18: 1027-9.
    • (2008) Thyroid , vol.18 , pp. 1027-1029
    • Perniola, R.1    Filograna, O.2    Greco, G.3    Pellegrino, V.4
  • 33
    • 0038100211 scopus 로고    scopus 로고
    • Editorial: Autoimmunity to gastrointestinal endocrine cells in autoimmune polyendocrine syndrome type i
    • DOI 10.1210/jc.2003-030247
    • Gianani R, Eisenbarth GS. Autoimmunity to gastrointestinal endocrine cells in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 2003, 88: 1442-4. (Pubitemid 36623352)
    • (2003) Journal of Clinical Endocrinology and Metabolism , vol.88 , Issue.4 , pp. 1442-1444
    • Gianani, R.1    Eisenbarth, G.S.2
  • 34
    • 85172052050 scopus 로고    scopus 로고
    • A distinct autoimmune gastrointestinal disease in patients with autoimmune polyendocrine syndrome type 1 and tryptophan hydroxylase autoantibodies
    • in press
    • Scarpa R, Alaggio R, Norberto L, et al. A distinct autoimmune gastrointestinal disease in patients with autoimmune polyendocrine syndrome type 1 and tryptophan hydroxylase autoantibodies. J Clin Endocrinol Metab 2013 (in press).
    • (2013) J Clin Endocrinol Metab
    • Scarpa, R.1    Alaggio, R.2    Norberto, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.