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Volumn 38, Issue 2, 2009, Pages 419-436

Diagnosis and Management of Polyendocrinopathy Syndromes

Author keywords

APS1; APS2; IPEX

Indexed keywords

AUTOANTIBODY; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; HLA ANTIGEN CLASS 1; HORMONE; INSULIN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22;

EID: 62749130573     PISSN: 08898529     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ecl.2009.01.007     Document Type: Review
Times cited : (27)

References (66)
  • 1
    • 0019811879 scopus 로고
    • Two types of auto-immune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes
    • Neufeld M., Maclaren N.K., et al. Two types of auto-immune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine (Baltimore) 60 5 (1981) 355-362
    • (1981) Medicine (Baltimore) , vol.60 , Issue.5 , pp. 355-362
    • Neufeld, M.1    Maclaren, N.K.2
  • 2
    • 0033345815 scopus 로고    scopus 로고
    • Is the prevalence of Addison disease underestimated?
    • Laureti S., Vecchi L., et al. Is the prevalence of Addison disease underestimated?. J Clin Endocrinol Metab 84 5 (1999) 1762
    • (1999) J Clin Endocrinol Metab , vol.84 , Issue.5 , pp. 1762
    • Laureti, S.1    Vecchi, L.2
  • 3
    • 0036081884 scopus 로고    scopus 로고
    • Autoantibodies in autoimmune polyendocrine syndrome type II
    • Falorni A., Laureti S., et al. Autoantibodies in autoimmune polyendocrine syndrome type II. Endocrinol Metab Clin North Am 31 2 (2002) 369-389
    • (2002) Endocrinol Metab Clin North Am , vol.31 , Issue.2 , pp. 369-389
    • Falorni, A.1    Laureti, S.2
  • 4
    • 85047684725 scopus 로고    scopus 로고
    • Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction
    • Betterle C., Dal Pra C., et al. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev 23 3 (2002) 327-364
    • (2002) Endocr Rev , vol.23 , Issue.3 , pp. 327-364
    • Betterle, C.1    Dal Pra, C.2
  • 5
    • 0029968793 scopus 로고    scopus 로고
    • Type 2 polyglandular autoimmune disease (Schmidt's syndrome)
    • Betterle C., Volpato M., et al. Type 2 polyglandular autoimmune disease (Schmidt's syndrome). J Pediatr Endocrinol Metab 9 Suppl 1 (1996) 113-123
    • (1996) J Pediatr Endocrinol Metab , vol.9 , Issue.SUPPL. 1 , pp. 113-123
    • Betterle, C.1    Volpato, M.2
  • 6
    • 3543015625 scopus 로고    scopus 로고
    • Autoimmune polyglandular syndrome type 2: the tip of an iceberg?
    • Betterle C., Lazzarotto F., et al. Autoimmune polyglandular syndrome type 2: the tip of an iceberg?. Clin Exp Immunol 137 2 (2004) 225-233
    • (2004) Clin Exp Immunol , vol.137 , Issue.2 , pp. 225-233
    • Betterle, C.1    Lazzarotto, F.2
  • 7
    • 0035845275 scopus 로고    scopus 로고
    • Deterioration of symptoms after start of thyroid hormone replacement
    • Murray J.S., Jayarajasingh R., et al. Deterioration of symptoms after start of thyroid hormone replacement. BMJ 323 7308 (2001) 332-333
    • (2001) BMJ , vol.323 , Issue.7308 , pp. 332-333
    • Murray, J.S.1    Jayarajasingh, R.2
  • 8
    • 33646393245 scopus 로고    scopus 로고
    • Type 1 diabetes and latent autoimmune diabetes in adults: one end of the rainbow
    • Leslie R.D., Williams R., et al. Type 1 diabetes and latent autoimmune diabetes in adults: one end of the rainbow. J Clin Endocrinol Metab 91 5 (2006) 1654-1659
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.5 , pp. 1654-1659
    • Leslie, R.D.1    Williams, R.2
  • 9
    • 0035985901 scopus 로고    scopus 로고
    • Autoimmune polyglandular syndrome II: clinical syndrome and treatment
    • Schatz D.A., and Winter W.E. Autoimmune polyglandular syndrome II: clinical syndrome and treatment. Endocrinol Metab Clin North Am 31 2 (2002) 339-352
    • (2002) Endocrinol Metab Clin North Am , vol.31 , Issue.2 , pp. 339-352
    • Schatz, D.A.1    Winter, W.E.2
  • 10
    • 0027724159 scopus 로고
    • Organ-specific autoimmunity in patients with premature ovarian failure
    • Belvisi L., Bombelli F., et al. Organ-specific autoimmunity in patients with premature ovarian failure. J Endocrinol Invest 16 11 (1993) 889-892
    • (1993) J Endocrinol Invest , vol.16 , Issue.11 , pp. 889-892
    • Belvisi, L.1    Bombelli, F.2
  • 11
    • 0345733740 scopus 로고    scopus 로고
    • I. Adrenal cortex and steroid 21-hydroxylase autoantibodies in adult patients with organ-specific autoimmune diseases: markers of low progression to clinical Addison disease
    • Betterle C., Volpato M., et al. I. Adrenal cortex and steroid 21-hydroxylase autoantibodies in adult patients with organ-specific autoimmune diseases: markers of low progression to clinical Addison disease. J Clin Endocrinol Metab 82 3 (1997) 932-938
    • (1997) J Clin Endocrinol Metab , vol.82 , Issue.3 , pp. 932-938
    • Betterle, C.1    Volpato, M.2
  • 12
    • 0026071393 scopus 로고
    • Islet cell antibodies in patients with autoimmune thyroid disease
    • Yamaguchi Y., Chikuba N., et al. Islet cell antibodies in patients with autoimmune thyroid disease. Diabetes 40 3 (1991) 319-322
    • (1991) Diabetes , vol.40 , Issue.3 , pp. 319-322
    • Yamaguchi, Y.1    Chikuba, N.2
  • 13
    • 0030021041 scopus 로고    scopus 로고
    • Organ-specific autoantibodies in vitiligo patients and their relatives
    • Mandry R.C., Ortiz L.J., et al. Organ-specific autoantibodies in vitiligo patients and their relatives. Int J Dermatol 35 1 (1996) 18-21
    • (1996) Int J Dermatol , vol.35 , Issue.1 , pp. 18-21
    • Mandry, R.C.1    Ortiz, L.J.2
  • 14
    • 0036082209 scopus 로고    scopus 로고
    • The genetics of autoimmune polyendocrine syndrome type II
    • Robles D.T., Fain P.R., et al. The genetics of autoimmune polyendocrine syndrome type II. Endocrinol Metab Clin North Am 31 2 (2002) 353-368
    • (2002) Endocrinol Metab Clin North Am , vol.31 , Issue.2 , pp. 353-368
    • Robles, D.T.1    Fain, P.R.2
  • 15
    • 0029666353 scopus 로고    scopus 로고
    • Although DR3-DQB1*0201 may be associated with multiple component diseases of the autoimmune polyglandular syndromes, the human leukocyte antigen DR4-DQB1*0302 haplotype is implicated only in beta-cell autoimmunity
    • Huang W., Connor E., et al. Although DR3-DQB1*0201 may be associated with multiple component diseases of the autoimmune polyglandular syndromes, the human leukocyte antigen DR4-DQB1*0302 haplotype is implicated only in beta-cell autoimmunity. J Clin Endocrinol Metab 81 7 (1996) 2259-2263
    • (1996) J Clin Endocrinol Metab , vol.81 , Issue.7 , pp. 2259-2263
    • Huang, W.1    Connor, E.2
  • 16
    • 0030734382 scopus 로고    scopus 로고
    • Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto thyroiditis and Addison disease
    • Donner H., Braun J., et al. Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto thyroiditis and Addison disease. J Clin Endocrinol Metab 82 12 (1997) 4130-4132
    • (1997) J Clin Endocrinol Metab , vol.82 , Issue.12 , pp. 4130-4132
    • Donner, H.1    Braun, J.2
  • 17
    • 0028873470 scopus 로고
    • CTLA-4 gene polymorphism associated with Graves disease in a Caucasian population
    • Yanagawa T., Hidaka Y., et al. CTLA-4 gene polymorphism associated with Graves disease in a Caucasian population. J Clin Endocrinol Metab 80 1 (1995) 41-45
    • (1995) J Clin Endocrinol Metab , vol.80 , Issue.1 , pp. 41-45
    • Yanagawa, T.1    Hidaka, Y.2
  • 18
    • 0033793974 scopus 로고    scopus 로고
    • Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure
    • Vaidya B., Pearce S., et al. Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure. Clin Endocrinol (Oxf) 53 4 (2000) 403-418
    • (2000) Clin Endocrinol (Oxf) , vol.53 , Issue.4 , pp. 403-418
    • Vaidya, B.1    Pearce, S.2
  • 19
    • 8944259914 scopus 로고    scopus 로고
    • The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgium Diabetes Registry
    • Nisticò L., Buzzetti R., et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgium Diabetes Registry. Hum Mol Genet 5 7 (1996) 1075-1080
    • (1996) Hum Mol Genet , vol.5 , Issue.7 , pp. 1075-1080
    • Nisticò, L.1    Buzzetti, R.2
  • 20
    • 12344321447 scopus 로고    scopus 로고
    • No evidence of association of CTLA4 polymorphisms with Addison's disease
    • De Nanclares G.P., Martin-Pagola A., et al. No evidence of association of CTLA4 polymorphisms with Addison's disease. Autoimmunity 37 6-7 (2004) 453-456
    • (2004) Autoimmunity , vol.37 , Issue.6-7 , pp. 453-456
    • De Nanclares, G.P.1    Martin-Pagola, A.2
  • 21
    • 8744266374 scopus 로고    scopus 로고
    • The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease
    • Velaga M.R., Wilson V., et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 89 11 (2004) 5862-5865
    • (2004) J Clin Endocrinol Metab , vol.89 , Issue.11 , pp. 5862-5865
    • Velaga, M.R.1    Wilson, V.2
  • 22
    • 42549159759 scopus 로고    scopus 로고
    • Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease
    • Skinningsrud B., Husebye E.S., et al. Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. Eur J Hum Genet 16 8 (2008) 977-982
    • (2008) Eur J Hum Genet , vol.16 , Issue.8 , pp. 977-982
    • Skinningsrud, B.1    Husebye, E.S.2
  • 23
    • 60349083325 scopus 로고    scopus 로고
    • The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22 gene) predisposes to autoimmune Addison's disease
    • 10.1111/j.1365-2265.2008.03380.x [Epub ahead of print]
    • Roycroft M., Fichna M., et al. The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22 gene) predisposes to autoimmune Addison's disease. Clin Endocrinol (Oxf) (Aug 15, 2008) 10.1111/j.1365-2265.2008.03380.x [Epub ahead of print]
    • (2008) Clin Endocrinol (Oxf)
    • Roycroft, M.1    Fichna, M.2
  • 24
    • 0035283175 scopus 로고    scopus 로고
    • Tolerance and autoimmunity
    • Kamradt T., and Mitchison N.A. Tolerance and autoimmunity. N Engl J Med 344 9 (2001) 655-664
    • (2001) N Engl J Med , vol.344 , Issue.9 , pp. 655-664
    • Kamradt, T.1    Mitchison, N.A.2
  • 25
    • 2442628376 scopus 로고    scopus 로고
    • + regulatory T cells in autoimmune polyglandular syndrome type II
    • + regulatory T cells in autoimmune polyglandular syndrome type II. J Exp Med 199 9 (2004) 1285-1291
    • (2004) J Exp Med , vol.199 , Issue.9 , pp. 1285-1291
    • Kriegel, M.A.1    Lohmann, T.2
  • 26
    • 33845484640 scopus 로고    scopus 로고
    • Impaired caspase-3 expression by peripheral T cells in chronic autoimmune thyroiditis and in autoimmune polyendocrine syndrome-2
    • Vendrame F., Segni M., et al. Impaired caspase-3 expression by peripheral T cells in chronic autoimmune thyroiditis and in autoimmune polyendocrine syndrome-2. J Clin Endocrinol Metab 91 12 (2006) 5064-5068
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.12 , pp. 5064-5068
    • Vendrame, F.1    Segni, M.2
  • 27
    • 0033024586 scopus 로고    scopus 로고
    • Adrenal-cortex autoantibodies and steroid-producing cells autoantibodies in patients with Addison disease: comparison of immunofluorescence and immunoprecipitation assays
    • Betterle C., Volpato M., et al. Adrenal-cortex autoantibodies and steroid-producing cells autoantibodies in patients with Addison disease: comparison of immunofluorescence and immunoprecipitation assays. J Clin Endocrinol Metab 84 2 (1999) 618-622
    • (1999) J Clin Endocrinol Metab , vol.84 , Issue.2 , pp. 618-622
    • Betterle, C.1    Volpato, M.2
  • 28
    • 0029046372 scopus 로고
    • The incidence of thyroid disorders in the community: a twenty-year follow-up of the Wickham Survey
    • Vanderpump M.P., Tunbridge W.M., et al. The incidence of thyroid disorders in the community: a twenty-year follow-up of the Wickham Survey. Clin Endocrinol (Oxf) 43 1 (1995) 55-68
    • (1995) Clin Endocrinol (Oxf) , vol.43 , Issue.1 , pp. 55-68
    • Vanderpump, M.P.1    Tunbridge, W.M.2
  • 29
    • 0028911293 scopus 로고
    • High diagnostic sensitivity of glutamate decarboxylase autoantibodies in insulin-dependent diabetes mellitus with clinical onset between age 20 and 40 years. The Belgian Diabetes Registry
    • Vandewalle C.L., Falorni A., et al. High diagnostic sensitivity of glutamate decarboxylase autoantibodies in insulin-dependent diabetes mellitus with clinical onset between age 20 and 40 years. The Belgian Diabetes Registry. J Clin Endocrinol Metab 80 3 (1995) 846-851
    • (1995) J Clin Endocrinol Metab , vol.80 , Issue.3 , pp. 846-851
    • Vandewalle, C.L.1    Falorni, A.2
  • 30
    • 33845484034 scopus 로고    scopus 로고
    • Premature mortality in patients with Addison's disease: a population based study
    • Bergthorsdottir R., Leonsson-Zachrisson M., et al. Premature mortality in patients with Addison's disease: a population based study. J Clin Endocrinol Metab 91 12 (2006) 4849-4853
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.12 , pp. 4849-4853
    • Bergthorsdottir, R.1    Leonsson-Zachrisson, M.2
  • 31
    • 18344403236 scopus 로고    scopus 로고
    • High prevalence and increasing incidence of Addison disease in western Norway
    • Lovas K., and Husebye E.S. High prevalence and increasing incidence of Addison disease in western Norway. Clin Endocrinol (Oxf) 56 6 (2002) 787-791
    • (2002) Clin Endocrinol (Oxf) , vol.56 , Issue.6 , pp. 787-791
    • Lovas, K.1    Husebye, E.S.2
  • 32
    • 0025295238 scopus 로고
    • Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
    • Ahonen P., Myllärniemi S., et al. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 322 26 (1990) 1829-1836
    • (1990) N Engl J Med , vol.322 , Issue.26 , pp. 1829-1836
    • Ahonen, P.1    Myllärniemi, S.2
  • 33
    • 0026481974 scopus 로고
    • Polyglandular autoimmune syndrome type I among Iranian Jews
    • Zlotogora J., and Shapiro M.S. Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 29 11 (1992) 824-826
    • (1992) J Med Genet , vol.29 , Issue.11 , pp. 824-826
    • Zlotogora, J.1    Shapiro, M.S.2
  • 34
    • 64549115221 scopus 로고    scopus 로고
    • Clinical review 93: autoimmune polyglandular syndrome type I
    • Betterle C., Greggio N.A., et al. Clinical review 93: autoimmune polyglandular syndrome type I. J Clin Endocrinol Metab 83 4 (1998) 1049-1055
    • (1998) J Clin Endocrinol Metab , vol.83 , Issue.4 , pp. 1049-1055
    • Betterle, C.1    Greggio, N.A.2
  • 35
    • 0035123883 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndrome type I (APS1) in Norway
    • Myhre A.G., Halonen M., et al. Autoimmune polyendocrine syndrome type I (APS1) in Norway. Clin Endocrinol (Oxf) 54 2 (2001) 211-217
    • (2001) Clin Endocrinol (Oxf) , vol.54 , Issue.2 , pp. 211-217
    • Myhre, A.G.1    Halonen, M.2
  • 36
    • 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 31 2 (2002) 295-320
    • (2002) Endocrinol Metab Clin North Am , vol.31 , Issue.2 , pp. 295-320
    • Perheentupa, J.1
  • 37
    • 0035724857 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy syndrome type I: treat with kid gloves
    • Pearce S.H., and Cheetham T.D. Autoimmune polyendocrinopathy syndrome type I: treat with kid gloves. Clin Endocrinol (Oxf) 54 4 (2001) 433-435
    • (2001) Clin Endocrinol (Oxf) , vol.54 , Issue.4 , pp. 433-435
    • Pearce, S.H.1    Cheetham, T.D.2
  • 38
    • 0031753977 scopus 로고    scopus 로고
    • A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
    • Rosatelli M.C., Meloni A., et al. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet 103 4 (1998) 428-434
    • (1998) Hum Genet , vol.103 , Issue.4 , pp. 428-434
    • Rosatelli, M.C.1    Meloni, A.2
  • 39
    • 0000608245 scopus 로고
    • The syndrome of keratoconjunctivitis, superficial moniliasis idiopathic hypoparathyroidism and Addison disease
    • Gass J.D. The syndrome of keratoconjunctivitis, superficial moniliasis idiopathic hypoparathyroidism and Addison disease. Am J Ophthalmol 54 (1962) 660-674
    • (1962) Am J Ophthalmol , vol.54 , pp. 660-674
    • Gass, J.D.1
  • 40
    • 10744230766 scopus 로고    scopus 로고
    • The hypoparathyroidism of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protective effect of male sex
    • Gylling M., Kääriäinen E., et al. The hypoparathyroidism of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protective effect of male sex. J Clin Endocrinol Metab 88 10 (2003) 4602-4608
    • (2003) J Clin Endocrinol Metab , vol.88 , Issue.10 , pp. 4602-4608
    • Gylling, M.1    Kääriäinen, E.2
  • 41
    • 33747662305 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 91 8 (2006) 2843-2850
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.8 , pp. 2843-2850
    • Perheentupa, J.1
  • 42
    • 0018866187 scopus 로고
    • Immunofluorescence studies on autoantibodies to steroid-producing cells, and to germline cells in endocrine disease and infertility
    • Sotsiou F., Bottazzo G.F., et al. Immunofluorescence studies on autoantibodies to steroid-producing cells, and to germline cells in endocrine disease and infertility. Clin Exp Immunol 39 1 (1980) 97-111
    • (1980) Clin Exp Immunol , vol.39 , Issue.1 , pp. 97-111
    • Sotsiou, F.1    Bottazzo, G.F.2
  • 43
    • 0028962635 scopus 로고
    • Intestinal lymphangiectasia in a patient with autoimmune polyglandular disease type I and steatorrhea
    • Bereket A., Lowenheim M., et al. Intestinal lymphangiectasia in a patient with autoimmune polyglandular disease type I and steatorrhea. J Clin Endocrinol Metab 80 3 (1995) 933-935
    • (1995) J Clin Endocrinol Metab , vol.80 , Issue.3 , pp. 933-935
    • Bereket, A.1    Lowenheim, M.2
  • 44
    • 0035945665 scopus 로고    scopus 로고
    • Malabsorption due to cholecystokinin deficiency in a patient with autoimmune polyglandular syndrome type 1
    • Högenauer C., Meyer R.L., et al. Malabsorption due to cholecystokinin deficiency in a patient with autoimmune polyglandular syndrome type 1. N Engl J Med 344 4 (2001) 270-274
    • (2001) N Engl J Med , vol.344 , Issue.4 , pp. 270-274
    • Högenauer, C.1    Meyer, R.L.2
  • 45
    • 0036252109 scopus 로고    scopus 로고
    • Orthoptic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1
    • Smith D., Stringer M.D., et al. Orthoptic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1. Pediatr Transplant 6 2 (2002) 166-170
    • (2002) Pediatr Transplant , vol.6 , Issue.2 , pp. 166-170
    • Smith, D.1    Stringer, M.D.2
  • 46
    • 16944367194 scopus 로고    scopus 로고
    • Positional cloning of the APECED gene
    • Nagamine K., Peterson P., et al. Positional cloning of the APECED gene. Nature Genet 17 4 (1997) 393-398
    • (1997) Nature Genet , vol.17 , Issue.4 , pp. 393-398
    • Nagamine, K.1    Peterson, P.2
  • 47
    • 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. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nature Genet 17 4 (1997) 399-403
    • (1997) Nature Genet , vol.17 , Issue.4 , pp. 399-403
    • The Finnish-German APECED Consortium1
  • 48
    • 0037383758 scopus 로고    scopus 로고
    • AIRE regulates negative selection of organ-specific T cells
    • Liston A., Lesage S., et al. AIRE regulates negative selection of organ-specific T cells. Nat Immunol 4 4 (2003) 350-354
    • (2003) Nat Immunol , vol.4 , Issue.4 , pp. 350-354
    • Liston, A.1    Lesage, S.2
  • 49
    • 34547151992 scopus 로고    scopus 로고
    • A decade of AIRE
    • Mathis D., and Benoist C. A decade of AIRE. Nat Rev Immunol 7 8 (2007) 645-650
    • (2007) Nat Rev Immunol , vol.7 , Issue.8 , pp. 645-650
    • Mathis, D.1    Benoist, C.2
  • 50
    • 0032470812 scopus 로고    scopus 로고
    • A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type I
    • Pearce S.H., Cheetham T., et al. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type I. Am J Hum Genet 63 6 (1998) 1675-1684
    • (1998) Am J Hum Genet , vol.63 , Issue.6 , pp. 1675-1684
    • Pearce, S.H.1    Cheetham, T.2
  • 51
    • 33846990524 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene
    • Wolff A.S., Erichsen M.M., et al. Autoimmune polyendocrinopathy syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab 92 2 (2007) 595-603
    • (2007) J Clin Endocrinol Metab , vol.92 , Issue.2 , pp. 595-603
    • Wolff, A.S.1    Erichsen, M.M.2
  • 52
    • 18444378139 scopus 로고    scopus 로고
    • AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype
    • Halonen M., Eskelin P., et al. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab 87 6 (2002) 2568-2574
    • (2002) J Clin Endocrinol Metab , vol.87 , Issue.6 , pp. 2568-2574
    • Halonen, M.1    Eskelin, P.2
  • 53
    • 33846913988 scopus 로고    scopus 로고
    • The role of the IDDM2 locus in the susceptibility of UK APS1 subjects to type 1 diabetes mellitus
    • Adamson K.A., Cheetham T.D., et al. The role of the IDDM2 locus in the susceptibility of UK APS1 subjects to type 1 diabetes mellitus. Int J Immunogenet 34 1 (2007) 17-21
    • (2007) Int J Immunogenet , vol.34 , Issue.1 , pp. 17-21
    • Adamson, K.A.1    Cheetham, T.D.2
  • 54
    • 33746423947 scopus 로고    scopus 로고
    • Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1
    • Meager A., Visvalingam K., et al. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Med 3 7 (2006) 1152-1164
    • (2006) PLoS Med , vol.3 , Issue.7 , pp. 1152-1164
    • Meager, A.1    Visvalingam, K.2
  • 55
    • 10744233772 scopus 로고    scopus 로고
    • Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type 1
    • Söderbergh A., Myhre A.G., et al. Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 89 2 (2004) 557-562
    • (2004) J Clin Endocrinol Metab , vol.89 , Issue.2 , pp. 557-562
    • Söderbergh, A.1    Myhre, A.G.2
  • 56
    • 0030051024 scopus 로고    scopus 로고
    • Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism
    • Li Y., Song Y.H., et al. Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism. J Clin Invest 97 4 (1996) 910-914
    • (1996) J Clin Invest , vol.97 , Issue.4 , pp. 910-914
    • Li, Y.1    Song, Y.H.2
  • 57
    • 34347271707 scopus 로고    scopus 로고
    • The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1
    • Gavalas N.G., Kemp E.H., et al. The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 92 6 (2007) 2107-2114
    • (2007) J Clin Endocrinol Metab , vol.92 , Issue.6 , pp. 2107-2114
    • Gavalas, N.G.1    Kemp, E.H.2
  • 58
    • 40449109084 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
    • Alimohammadi M., Björklund P., et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 358 10 (2008) 1018-1028
    • (2008) N Engl J Med , vol.358 , Issue.10 , pp. 1018-1028
    • Alimohammadi, M.1    Björklund, P.2
  • 59
    • 0029988330 scopus 로고    scopus 로고
    • Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I
    • Tuomi T., Björses P., et al. Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 81 4 (1996) 1488-1494
    • (1996) J Clin Endocrinol Metab , vol.81 , Issue.4 , pp. 1488-1494
    • Tuomi, T.1    Björses, P.2
  • 60
    • 0034823985 scopus 로고    scopus 로고
    • Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • Obermayer-Straub P., Perheentupa J., et al. Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Gastroenterology 121 3 (2001) 668-677
    • (2001) Gastroenterology , vol.121 , Issue.3 , pp. 668-677
    • Obermayer-Straub, P.1    Perheentupa, J.2
  • 61
    • 0036346861 scopus 로고    scopus 로고
    • Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome
    • Wildin R.S., Smyk-Pearson S., et al. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 39 8 (2002) 537-545
    • (2002) J Med Genet , vol.39 , Issue.8 , pp. 537-545
    • Wildin, R.S.1    Smyk-Pearson, S.2
  • 62
    • 0020038580 scopus 로고
    • An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy
    • Powell B.R., Buist N.R., et al. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 100 5 (1982) 731-737
    • (1982) J Pediatr , vol.100 , Issue.5 , pp. 731-737
    • Powell, B.R.1    Buist, N.R.2
  • 63
    • 0347993107 scopus 로고    scopus 로고
    • Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome
    • Owen C.J., Jennings C.E., et al. Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome. J Clin Endocrinol Metab 88 12 (2003) 6034-6039
    • (2003) J Clin Endocrinol Metab , vol.88 , Issue.12 , pp. 6034-6039
    • Owen, C.J.1    Jennings, C.E.2
  • 65
    • 33646240855 scopus 로고    scopus 로고
    • Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development
    • Gavin M.A., Torgerson T.R., et al. Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development. Proc Natl Acad Sci U S A 103 17 (2006) 6659-6664
    • (2006) Proc Natl Acad Sci U S A , vol.103 , Issue.17 , pp. 6659-6664
    • Gavin, M.A.1    Torgerson, T.R.2
  • 66
    • 33846805925 scopus 로고    scopus 로고
    • CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, and defective IL-10 expression from CD4 lymphocytes
    • Caudy A.A., Reddy S.T., et al. CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allergy Clin Immunol 119 2 (2007) 482-487
    • (2007) J Allergy Clin Immunol , vol.119 , Issue.2 , pp. 482-487
    • Caudy, A.A.1    Reddy, S.T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.