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Volumn 167, Issue 11, 2008, Pages 1283-1288

Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers

Author keywords

AIRE gene; APECED; Chronic respiratory illness; Gastrointestinal autoimmunity; Hydroxylase autoantibodies; Tryptophan

Indexed keywords

AUTOANTIBODY; SEROTONIN; TRYPTOPHAN HYDROXYLASE;

EID: 51849147152     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-008-0668-3     Document Type: Article
Times cited : (31)

References (25)
  • 1
    • 0025295238 scopus 로고
    • Clinical variation of autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED) in a series of 68 patients
    • P Ahonen S Myllarniemi I Sipila J Perheentupa 1990 Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients N Engl J Med 322 1829 1836
    • (1990) N Engl J Med , vol.322 , pp. 1829-1836
    • Ahonen, P.1    Myllarniemi, S.2    Sipila, I.3    Perheentupa, J.4
  • 3
    • 85047684725 scopus 로고    scopus 로고
    • Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: Autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction
    • C Betterle C Dal Pra F Mantero R Zanchetta 2002 Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction Endocr Rev 23 327 364
    • (2002) Endocr Rev , vol.23 , pp. 327-364
    • Betterle, C.1    Dal Pra, C.2    Mantero, F.3    Zanchetta, R.4
  • 5
    • 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
    • P Bjorses M Halonen JJ Palvimo M Kolmer J Aaltonen P Ellonen J Perheentupa I Ulmanen L Peltonen 2000 Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein Am J Hum Genet 66 378 392
    • (2000) Am J Hum Genet , vol.66 , pp. 378-392
    • Bjorses, P.1    Halonen, M.2    Palvimo, J.J.3    Kolmer, M.4    Aaltonen, J.5    Ellonen, P.6    Perheentupa, J.7    Ulmanen, I.8    Peltonen, L.9
  • 6
    • 26844450449 scopus 로고    scopus 로고
    • How defects in central tolerance impinge on a deficiency in regulatory T cells
    • 41
    • Z Chen C Benoist D Mathis 2005 How defects in central tolerance impinge on a deficiency in regulatory T cells Proc Natl Acad Sci U S A 102 41 14735 14740
    • (2005) Proc Natl Acad Sci U S a , vol.102 , pp. 14735-14740
    • Chen, Z.1    Benoist, C.2    Mathis, D.3
  • 9
    • 51849140165 scopus 로고    scopus 로고
    • Autoimmune bronchiolitis is a life threatening component of autoimmune polyendocrine syndrome type 1(APS1) (abstract)
    • 1
    • N Dubois I Tardivel M Kajosaari B Vialettes JC Carel 2007 Autoimmune bronchiolitis is a life threatening component of autoimmune polyendocrine syndrome type 1(APS1) (abstract) Horm Res 68 1 61
    • (2007) Horm Res , vol.68 , pp. 61
    • Dubois, N.1    Tardivel, I.2    Kajosaari, M.3    Vialettes, B.4    Carel, J.C.5
  • 12
    • 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 1997 An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains Nat Genet 17 399 403
    • (1997) Nat Genet , vol.17 , pp. 399-403
  • 13
    • 0038100211 scopus 로고    scopus 로고
    • Editorial: Autoimmunity to gastrointestinal endocrine cells in autoimmune polyendocrine syndrome type I
    • R Gianani GS Eisenbarth 2003 Editorial: autoimmunity to gastrointestinal endocrine cells in autoimmune polyendocrine syndrome type I J Clin Endocrinol Metab 88 1442 1444
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 1442-1444
    • Gianani, R.1    Eisenbarth, G.S.2
  • 16
    • 46149114371 scopus 로고    scopus 로고
    • An 8-year-old boy with autoimmune hepatitis and candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): Identification of a new homozygous mutation in the autoimmune regulator gene (aire)
    • DOI 10.1007/s00431-007-0599-4
    • Lintas C, Cappa M, Comparcola D, Nobili V, Fierabracci A (2007) An 8-year-old boy with autoimmune hepatitis and candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (aire). Eur J Pediatr. DOI 10.1007/s00431-007-0599-4
    • (2007) Eur J Pediatr
    • Lintas, C.1    Cappa, M.2    Comparcola, D.3    Nobili, V.4    Fierabracci, A.5
  • 18
    • 0036171124 scopus 로고    scopus 로고
    • Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy
    • A Meloni R Perniola V Faà E Corvaglia A Cao MC Rosatelli 2002 Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy J Clin Endocrinol Metab 87 841 846
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 841-846
    • Meloni, A.1    Perniola, R.2    Faà, V.3    Corvaglia, E.4    Cao, A.5    Rosatelli, M.C.6
  • 19
    • 51849153923 scopus 로고    scopus 로고
    • A novel AIRE gene mutation in an APS1 patient with adrenal failure, hypoparathyroidism, ovarian failure, growth hormone deficiency, asthma and chronic otitis with effusion (abstract)
    • 1
    • T Milenkovic D Zdravkovic M Djordjevic KT Podkrajsek P Minic T Battelino 2007 A novel AIRE gene mutation in an APS1 patient with adrenal failure, hypoparathyroidism, ovarian failure, growth hormone deficiency, asthma and chronic otitis with effusion (abstract) Horm Res 68 1 61
    • (2007) Horm Res , vol.68 , pp. 61
    • Milenkovic, T.1    Zdravkovic, D.2    Djordjevic, M.3    Podkrajsek, K.T.4    Minic, P.5    Battelino, T.6
  • 22
    • 33747662305 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • J Perheentupa 2006 Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy J Clin Endocrinol Metab 91 2843 2850
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 2843-2850
    • Perheentupa, J.1
  • 23
    • 28444438159 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: New views on molecular basis of autoimmunity
    • P Peterson L Peltonen 2005 Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity J Autoimmun 25 49 55
    • (2005) J Autoimmun , vol.25 , pp. 49-55
    • Peterson, P.1    Peltonen, L.2
  • 25
    • 0026481974 scopus 로고
    • Polyglandular autoimmune syndrome type I among Iranian Jews
    • J Zlotogora MS Shapiro 1992 Polyglandular autoimmune syndrome type I among Iranian Jews J Med Genet 29 824 826
    • (1992) J Med Genet , vol.29 , pp. 824-826
    • Zlotogora, J.1    Shapiro, M.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.