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Volumn 35, Issue 5, 2015, Pages 463-478

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy

Author keywords

AIRE; APECED; APS1; autoantibodies; chronic mucocutaneous candidiasis; IL 17; IL 22; type I interferons

Indexed keywords

ALEMTUZUMAB; AUTOANTIBODY; AUTOIMMUNE REGULATOR PROTEIN; CYTOCHROME P450 1A2; CYTOCHROME P450 2A6; IMMUNOMODULATING AGENT; INTERFERON; INTERFERON ANTIBODY; INTERLEUKIN 17; INTERLEUKIN 17F; INTERLEUKIN 22; RAPAMYCIN; RITUXIMAB; TRANSCRIPTION FACTOR;

EID: 84937822800     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-015-0176-y     Document Type: Review
Times cited : (70)

References (159)
  • 1
    • 0025295238 scopus 로고
    • Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
    • COI: 1:STN:280:DyaK3c3ntF2nsQ%3D%3D, PID: 2348835
    • 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;322:1829–36.
    • (1990) N Engl J Med , vol.322 , pp. 1829-1836
    • Ahonen, P.1    Myllarniemi, S.2    Sipila, I.3    Perheentupa, J.4
  • 2
    • 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
  • 4
    • 0346599403 scopus 로고    scopus 로고
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
    • Consortium F-GA. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet. 1997;17:399–403.
    • (1997) Nat Genet , vol.17 , pp. 399-403
    • Consortium, F.-G.A.1
  • 5
    • 0026481974 scopus 로고
    • Polyglandular autoimmune syndrome type I among Iranian Jews
    • COI: 1:STN:280:DyaK3s%2FosFOjuw%3D%3D, PID: 1453436
    • Zlotogora J, Shapiro MS. Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet. 1992;29:824–6.
    • (1992) J Med Genet , vol.29 , pp. 824-826
    • Zlotogora, J.1    Shapiro, M.S.2
  • 6
    • 0031753977 scopus 로고    scopus 로고
    • A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
    • COI: 1:CAS:528:DyaK1cXnt1Gnu7o%3D, PID: 9856486
    • Rosatelli MC, Meloni A, Meloni A, Devoto M, Cao A, Scott HS, et al. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet. 1998;103:428–34.
    • (1998) Hum Genet , vol.103 , pp. 428-434
    • Rosatelli, M.C.1    Meloni, A.2    Meloni, A.3    Devoto, M.4    Cao, A.5    Scott, H.S.6
  • 7
    • 33747662305 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • COI: 1:CAS:528:DC%2BD28XosFGhsr0%3D, PID: 16684821
    • Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2006;91:2843–50.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 2843-2850
    • Perheentupa, J.1
  • 8
    • 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
    • COI: 1:CAS:528:DC%2BD2MXnvVWksLc%3D, PID: 15886230
    • 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;90:4930–5.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 4930-4935
    • Podkrajsek, K.T.1    Bratanic, N.2    Krzisnik, C.3    Battelino, T.4
  • 10
    • 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
    • COI: 1:STN:280:DC%2BD28rktVOjug%3D%3D, PID: 16965330
    • Stolarski B, Pronicka E, Korniszewski L, Pollak A, Kostrzewa G, Rowinska E, et al. Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence. Clin Genet. 2006;70:348–54.
    • (2006) Clin Genet , vol.70 , pp. 348-354
    • Stolarski, B.1    Pronicka, E.2    Korniszewski, L.3    Pollak, A.4    Kostrzewa, G.5    Rowinska, E.6
  • 11
    • 64249161198 scopus 로고    scopus 로고
    • Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I
    • COI: 1:CAS:528:DC%2BD1MXlvFOit70%3D, PID: 19382991
    • Husebye ES, Perheentupa J, Rautemaa R, Kampe O. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. 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
  • 12
    • 28444438159 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity
    • COI: 1:CAS:528:DC%2BD2MXht1Ghs7rM, PID: 16290093
    • Peterson P, Peltonen L. Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: new views on molecular basis of autoimmunity. J Autoimmun. 2005;25(Suppl):49–55.
    • (2005) J Autoimmun , vol.25 , pp. 49-55
    • Peterson, P.1    Peltonen, L.2
  • 13
    • 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
    • COI: 1:CAS:528:DC%2BD3MXptVars7w%3D, PID: 11600535
    • Cetani F, Barbesino G, Borsari S, Pardi E, Cianferotti L, Pinchera A, et al. 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;86:4747–52.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 4747-4752
    • Cetani, F.1    Barbesino, G.2    Borsari, S.3    Pardi, E.4    Cianferotti, L.5    Pinchera, A.6
  • 14
    • 0036227139 scopus 로고    scopus 로고
    • Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison’s disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I
    • COI: 1:CAS:528:DC%2BD38XjsFWlu70%3D, PID: 11916620
    • Boe AS, Knappskog PM, Myhre AG, Sorheim JI, Husebye ES. Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison’s disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I. Eur J Endocrinol. 2002;146:519–22.
    • (2002) Eur J Endocrinol , vol.146 , pp. 519-522
    • Boe, A.S.1    Knappskog, P.M.2    Myhre, A.G.3    Sorheim, J.I.4    Husebye, E.S.5
  • 15
    • 78449283131 scopus 로고    scopus 로고
    • AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED
    • COI: 1:CAS:528:DC%2BC3cXhsVagtLbP
    • Cervato S, Morlin L, Albergoni MP, Masiero S, Greggio N, Meossi C, et al. AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED. Clin Endocrinol (Oxf). 2010;73:630–6.
    • (2010) Clin Endocrinol (Oxf) , vol.73 , pp. 630-636
    • Cervato, S.1    Morlin, L.2    Albergoni, M.P.3    Masiero, S.4    Greggio, N.5    Meossi, C.6
  • 16
    • 33746423947 scopus 로고    scopus 로고
    • Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1
    • PID: 16784312
    • Meager A, Visvalingam K, Peterson P, Moll K, Murumagi A, Krohn K, et al. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Med. 2006;3:e289.
    • (2006) PLoS Med , vol.3 , pp. e289
    • Meager, A.1    Visvalingam, K.2    Peterson, P.3    Moll, K.4    Murumagi, A.5    Krohn, K.6
  • 17
    • 57349083325 scopus 로고    scopus 로고
    • Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I
    • COI: 1:CAS:528:DC%2BD1cXhtlyqs7fM, PID: 18728167
    • Meloni A, Furcas M, Cetani F, Marcocci C, Falorni A, Perniola R, et al. Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab. 2008;93:4389–97.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 4389-4397
    • Meloni, A.1    Furcas, M.2    Cetani, F.3    Marcocci, C.4    Falorni, A.5    Perniola, R.6
  • 18
    • 77950253546 scopus 로고    scopus 로고
    • Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy
    • COI: 1:CAS:528:DC%2BC3cXlvVKht7k%3D
    • Toth B, Wolff AS, Halasz Z, Tar A, Szuts P, Ilyes I, et al. Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy. Clin Endocrinol (Oxf). 2010;72:641–7.
    • (2010) Clin Endocrinol (Oxf) , vol.72 , pp. 641-647
    • Toth, B.1    Wolff, A.S.2    Halasz, Z.3    Tar, A.4    Szuts, P.5    Ilyes, I.6
  • 19
    • 33846990524 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene
    • COI: 1:CAS:528:DC%2BD2sXitVaktr4%3D, PID: 17118990
    • Wolff AS, Erichsen MM, Meager A, Magitta NF, Myhre AG, Bollerslev J, et al. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab. 2007;92:595–603.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 595-603
    • Wolff, A.S.1    Erichsen, M.M.2    Meager, A.3    Magitta, N.F.4    Myhre, A.G.5    Bollerslev, J.6
  • 20
    • 35248858705 scopus 로고    scopus 로고
    • A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1
    • COI: 1:CAS:528:DC%2BD2sXhtF2htbjP, PID: 17825626
    • Zhang L, Barker JM, Babu S, Su M, Stenerson M, Cheng M, et al. A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1. Clin Immunol. 2007;125:131–7.
    • (2007) Clin Immunol , vol.125 , pp. 131-137
    • Zhang, L.1    Barker, J.M.2    Babu, S.3    Su, M.4    Stenerson, M.5    Cheng, M.6
  • 21
    • 77951921063 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndromes: clues to type 1 diabetes pathogenesis
    • Husebye ES, Anderson MS. Autoimmune polyendocrine syndromes: clues to type 1 diabetes pathogenesis. Immunity. 2011;32:479–87.
    • (2011) Immunity , vol.32 , pp. 479-487
    • Husebye, E.S.1    Anderson, M.S.2
  • 22
    • 84889100576 scopus 로고    scopus 로고
    • Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood
    • COI: 1:CAS:528:DC%2BC3sXhslymsbbF, PID: 24158785
    • Wolff AS, Sarkadi AK, Marodi L, Karner J, Orlova E, Oftedal BE, et al. Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood. J Clin Immunol. 2013;33:1341–8.
    • (2013) J Clin Immunol , vol.33 , pp. 1341-1348
    • Wolff, A.S.1    Sarkadi, A.K.2    Marodi, L.3    Karner, J.4    Orlova, E.5    Oftedal, B.E.6
  • 23
    • 84859524893 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients
    • COI: 1:CAS:528:DC%2BC38Xlslygu7s%3D, PID: 22344197
    • Meloni A, Willcox N, Meager A, Atzeni M, Wolff AS, Husebye ES, et al. Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. J Clin Endocrinol Metab. 2012;97:1114–24.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 1114-1124
    • Meloni, A.1    Willcox, N.2    Meager, A.3    Atzeni, M.4    Wolff, A.S.5    Husebye, E.S.6
  • 24
    • 0031556856 scopus 로고    scopus 로고
    • Spontaneous neutralising antibodies to interferon--alpha and interleukin-12 in thymoma-associated autoimmune disease
    • COI: 1:STN:280:DyaK1c%2FlsFSlsg%3D%3D, PID: 9393342
    • Meager A, Vincent A, Newsom-Davis J, Willcox N. Spontaneous neutralising antibodies to interferon--alpha and interleukin-12 in thymoma-associated autoimmune disease. Lancet. 1997;350:1596–7.
    • (1997) Lancet , vol.350 , pp. 1596-1597
    • Meager, A.1    Vincent, A.2    Newsom-Davis, J.3    Willcox, N.4
  • 25
    • 84887607415 scopus 로고    scopus 로고
    • Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case–control study
    • COI: 1:CAS:528:DC%2BC3sXhslWlsb3L, PID: 24183309
    • Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, et al. Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case–control study. Lancet Neurol. 2013;12:1159–69.
    • (2013) Lancet Neurol , vol.12 , pp. 1159-1169
    • Rice, G.I.1    Forte, G.M.2    Szynkiewicz, M.3    Chase, D.S.4    Aeby, A.5    Abdel-Hamid, M.S.6
  • 26
    • 0037387254 scopus 로고    scopus 로고
    • Anti-cytokine autoantibodies in autoimmunity: preponderance of neutralizing autoantibodies against interferon-alpha, interferon-omega and interleukin-12 in patients with thymoma and/or myasthenia gravis
    • COI: 1:CAS:528:DC%2BD3sXjtlKrsLs%3D, PID: 12653847
    • Meager A, Wadhwa M, Dilger P, Bird C, Thorpe R, Newsom-Davis J, et al. Anti-cytokine autoantibodies in autoimmunity: preponderance of neutralizing autoantibodies against interferon-alpha, interferon-omega and interleukin-12 in patients with thymoma and/or myasthenia gravis. Clin Exp Immunol. 2003;132:128–36.
    • (2003) Clin Exp Immunol , vol.132 , pp. 128-136
    • Meager, A.1    Wadhwa, M.2    Dilger, P.3    Bird, C.4    Thorpe, R.5    Newsom-Davis, J.6
  • 27
    • 84907383101 scopus 로고    scopus 로고
    • Kidney involvement in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in a Finnish cohort
    • COI: 1:CAS:528:DC%2BC2cXhsleksrjF, PID: 24711434
    • Kluger N, Kataja J, Aho H, Ronn AM, Krohn K, Ranki A. Kidney involvement in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in a Finnish cohort. Nephrol Dial Transplant. 2014;29:1750–7.
    • (2014) Nephrol Dial Transplant , vol.29 , pp. 1750-1757
    • Kluger, N.1    Kataja, J.2    Aho, H.3    Ronn, A.M.4    Krohn, K.5    Ranki, A.6
  • 28
    • 51249103389 scopus 로고    scopus 로고
    • Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I
    • COI: 1:CAS:528:DC%2BD1cXhtFansLzM, PID: 18708298
    • Oftedal BE, Wolff AS, Bratland E, Kampe O, Perheentupa J, Myhre AG, et al. Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. Clin Immunol. 2008;129:163–9.
    • (2008) Clin Immunol , vol.129 , pp. 163-169
    • Oftedal, B.E.1    Wolff, A.S.2    Bratland, E.3    Kampe, O.4    Perheentupa, J.5    Myhre, A.G.6
  • 29
    • 77149124612 scopus 로고    scopus 로고
    • Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
    • COI: 1:CAS:528:DC%2BC3cXitFGqtbY%3D, PID: 20123958
    • Puel A, Doffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010;207:291–7.
    • (2010) J Exp Med , vol.207 , pp. 291-297
    • Puel, A.1    Doffinger, R.2    Natividad, A.3    Chrabieh, M.4    Barcenas-Morales, G.5    Picard, C.6
  • 30
    • 84873317650 scopus 로고    scopus 로고
    • Anti-cytokine autoantibodies suggest pathogenetic links with autoimmune regulator deficiency in humans and mice
    • COI: 1:STN:280:DC%2BC3szltlersA%3D%3D, PID: 23379432
    • Karner J, Meager A, Laan M, Maslovskaja J, Pihlap M, Remm A, et al. Anti-cytokine autoantibodies suggest pathogenetic links with autoimmune regulator deficiency in humans and mice. Clin Exp Immunol. 2013;171:263–72.
    • (2013) Clin Exp Immunol , vol.171 , pp. 263-272
    • Karner, J.1    Meager, A.2    Laan, M.3    Maslovskaja, J.4    Pihlap, M.5    Remm, A.6
  • 31
    • 78149415935 scopus 로고    scopus 로고
    • Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia
    • COI: 1:CAS:528:DC%2BC3cXhs1SlsrrE, PID: 20716769
    • Burbelo PD, Browne SK, Sampaio EP, Giaccone G, Zaman R, Kristosturyan E, et al. Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia. Blood. 2010;116:4848–58.
    • (2010) Blood , vol.116 , pp. 4848-4858
    • Burbelo, P.D.1    Browne, S.K.2    Sampaio, E.P.3    Giaccone, G.4    Zaman, R.5    Kristosturyan, E.6
  • 32
    • 51349111750 scopus 로고    scopus 로고
    • Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes
    • COI: 1:CAS:528:DC%2BD1cXht1SrtLfI, PID: 18606876
    • Kisand K, Link M, Wolff AS, Meager A, Tserel L, Org T, et al. Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes. Blood. 2008;112:2657–66.
    • (2008) Blood , vol.112 , pp. 2657-2666
    • Kisand, K.1    Link, M.2    Wolff, A.S.3    Meager, A.4    Tserel, L.5    Org, T.6
  • 33
    • 84901316920 scopus 로고    scopus 로고
    • A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1
    • COI: 1:CAS:528:DC%2BC2cXpslCqsbw%3D, PID: 24792136
    • Breivik L, Oftedal BE, Boe Wolff AS, Bratland E, Orlova EM, Husebye ES. A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. Clin Immunol. 2014;153:220–7.
    • (2014) Clin Immunol , vol.153 , pp. 220-227
    • Breivik, L.1    Oftedal, B.E.2    Boe Wolff, A.S.3    Bratland, E.4    Orlova, E.M.5    Husebye, E.S.6
  • 34
    • 84885400843 scopus 로고    scopus 로고
    • Human APECED; a sick thymus syndrome?
    • PID: 24109480
    • Arstila TP, Jarva H. Human APECED; a sick thymus syndrome? Front Immunol. 2013;4:313.
    • (2013) Front Immunol , vol.4 , pp. 313
    • Arstila, T.P.1    Jarva, H.2
  • 35
    • 0033590981 scopus 로고    scopus 로고
    • Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla
    • COI: 1:CAS:528:DyaK1MXisVaitLk%3D, PID: 10208866
    • Heino M, Peterson P, Kudoh J, Nagamine K, Lagerstedt A, Ovod V, et al. Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla. Biochem Biophys Res Commun. 1999;257:821–5.
    • (1999) Biochem Biophys Res Commun , vol.257 , pp. 821-825
    • Heino, M.1    Peterson, P.2    Kudoh, J.3    Nagamine, K.4    Lagerstedt, A.5    Ovod, V.6
  • 36
    • 49449093723 scopus 로고    scopus 로고
    • Deletional tolerance mediated by extrathymic Aire-expressing cells
    • COI: 1:CAS:528:DC%2BD1cXptlyhsL8%3D, PID: 18687966
    • Gardner JM, Devoss JJ, Friedman RS, Wong DJ, Tan YX, Zhou X, et al. Deletional tolerance mediated by extrathymic Aire-expressing cells. Science. 2008;321:843–7.
    • (2008) Science , vol.321 , pp. 843-847
    • Gardner, J.M.1    Devoss, J.J.2    Friedman, R.S.3    Wong, D.J.4    Tan, Y.X.5    Zhou, X.6
  • 37
    • 77749279470 scopus 로고    scopus 로고
    • Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells
    • COI: 1:CAS:528:DC%2BC3cXktVOisrc%3D, PID: 20093495
    • Poliani PL, Kisand K, Marrella V, Ravanini M, Notarangelo LD, Villa A, et al. Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells. Am J Pathol. 2010;176:1104–12.
    • (2010) Am J Pathol , vol.176 , pp. 1104-1112
    • Poliani, P.L.1    Kisand, K.2    Marrella, V.3    Ravanini, M.4    Notarangelo, L.D.5    Villa, A.6
  • 38
    • 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
    • COI: 1:CAS:528:DC%2BD3cXitFyisL0%3D, PID: 10677297
    • Bjorses P, Halonen M, Palvimo JJ, Kolmer M, Aaltonen J, Ellonen P, et al. 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;66:378–92.
    • (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
  • 39
    • 36448975490 scopus 로고    scopus 로고
    • Structure, dynamics and functions of promyelocytic leukaemia nuclear bodies
    • COI: 1:CAS:528:DC%2BD2sXhtlCrsbrI, PID: 17928811
    • Bernardi R, Pandolfi PP. Structure, dynamics and functions of promyelocytic leukaemia nuclear bodies. Nat Rev Mol Cell Biol. 2007;8:1006–16.
    • (2007) Nat Rev Mol Cell Biol , vol.8 , pp. 1006-1016
    • Bernardi, R.1    Pandolfi, P.P.2
  • 40
    • 56749161528 scopus 로고    scopus 로고
    • Transcriptional regulation by AIRE: molecular mechanisms of central tolerance
    • COI: 1:CAS:528:DC%2BD1cXhsVWlsLfL, PID: 19008896
    • Peterson P, Org T, Rebane A. Transcriptional regulation by AIRE: molecular mechanisms of central tolerance. Nat Rev Immunol. 2008;8:948–57.
    • (2008) Nat Rev Immunol , vol.8 , pp. 948-957
    • Peterson, P.1    Org, T.2    Rebane, A.3
  • 41
    • 38349110211 scopus 로고    scopus 로고
    • AIRE’s CARD revealed, a new structure for central tolerance provokes transcriptional plasticity
    • COI: 1:CAS:528:DC%2BD1cXks1Citw%3D%3D, PID: 17974569
    • Ferguson BJ, Alexander C, Rossi SW, Liiv I, Rebane A, Worth CL, et al. AIRE’s CARD revealed, a new structure for central tolerance provokes transcriptional plasticity. J Biol Chem. 2008;283:1723–31.
    • (2008) J Biol Chem , vol.283 , pp. 1723-1731
    • Ferguson, B.J.1    Alexander, C.2    Rossi, S.W.3    Liiv, I.4    Rebane, A.5    Worth, C.L.6
  • 42
    • 4544258485 scopus 로고    scopus 로고
    • Self-representation in the thymus: an extended view
    • COI: 1:CAS:528:DC%2BD2cXntFCmtL4%3D, PID: 15343368
    • Kyewski B, Derbinski J. Self-representation in the thymus: an extended view. Nat Rev Immunol. 2004;4:688–98.
    • (2004) Nat Rev Immunol , vol.4 , pp. 688-698
    • Kyewski, B.1    Derbinski, J.2
  • 43
    • 0037383758 scopus 로고    scopus 로고
    • Aire regulates negative selection of organ-specific T cells
    • COI: 1:CAS:528:DC%2BD3sXitlyqs7w%3D, PID: 12612579
    • Liston A, Lesage S, Wilson J, Peltonen L, Goodnow CC. Aire regulates negative selection of organ-specific T cells. Nat Immunol. 2003;4:350–4.
    • (2003) Nat Immunol , vol.4 , pp. 350-354
    • Liston, A.1    Lesage, S.2    Wilson, J.3    Peltonen, L.4    Goodnow, C.C.5
  • 44
    • 0037112047 scopus 로고    scopus 로고
    • Projection of an immunological self shadow within the thymus by the aire protein
    • COI: 1:CAS:528:DC%2BD38Xos1Wnsb8%3D, PID: 12376594
    • Anderson MS, Venanzi ES, Klein L, Chen Z, Berzins SP, Turley SJ, et al. Projection of an immunological self shadow within the thymus by the aire protein. Science. 2002;298:1395–401.
    • (2002) Science , vol.298 , pp. 1395-1401
    • Anderson, M.S.1    Venanzi, E.S.2    Klein, L.3    Chen, Z.4    Berzins, S.P.5    Turley, S.J.6
  • 45
    • 84874745221 scopus 로고    scopus 로고
    • Aire-dependent thymic development of tumor-associated regulatory T cells
    • COI: 1:CAS:528:DC%2BC3sXjtlyksL0%3D, PID: 23471412
    • Malchow S, Leventhal DS, Nishi S, Fischer BI, Shen L, Paner GP, et al. Aire-dependent thymic development of tumor-associated regulatory T cells. Science. 2013;339:1219–24.
    • (2013) Science , vol.339 , pp. 1219-1224
    • Malchow, S.1    Leventhal, D.S.2    Nishi, S.3    Fischer, B.I.4    Shen, L.5    Paner, G.P.6
  • 46
    • 84928581675 scopus 로고    scopus 로고
    • Immune tolerance. Regulatory T cells generated early in life play a distinct role in maintaining self-tolerance
    • COI: 1:CAS:528:DC%2BC2MXntF2ns7k%3D, PID: 25791085
    • Yang S, Fujikado N, Kolodin D, Benoist C, Mathis D. Immune tolerance. Regulatory T cells generated early in life play a distinct role in maintaining self-tolerance. Science. 2015;348:589–94.
    • (2015) Science , vol.348 , pp. 589-594
    • Yang, S.1    Fujikado, N.2    Kolodin, D.3    Benoist, C.4    Mathis, D.5
  • 47
    • 84871186320 scopus 로고    scopus 로고
    • AIRE-PHD fingers are structural hubs to maintain the integrity of chromatin-associated interactome
    • COI: 1:CAS:528:DC%2BC38XhvVCitbbL, PID: 23074189
    • Gaetani M, Matafora V, Saare M, Spiliotopoulos D, Mollica L, Quilici G, et al. AIRE-PHD fingers are structural hubs to maintain the integrity of chromatin-associated interactome. Nucleic Acids Res. 2012;40:11756–68.
    • (2012) Nucleic Acids Res , vol.40 , pp. 11756-11768
    • Gaetani, M.1    Matafora, V.2    Saare, M.3    Spiliotopoulos, D.4    Mollica, L.5    Quilici, G.6
  • 48
    • 73149115486 scopus 로고    scopus 로고
    • Aire’s partners in the molecular control of immunological tolerance
    • COI: 1:CAS:528:DC%2BC3cXkvVWiurY%3D, PID: 20085707
    • Abramson J, Giraud M, Benoist C, Mathis D. Aire’s partners in the molecular control of immunological tolerance. Cell. 2010;140:123–35.
    • (2010) Cell , vol.140 , pp. 123-135
    • Abramson, J.1    Giraud, M.2    Benoist, C.3    Mathis, D.4
  • 49
    • 45849137524 scopus 로고    scopus 로고
    • The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression
    • COI: 1:CAS:528:DC%2BD1cXktVWls7g%3D, PID: 18292755
    • Org T, Chignola F, Hetenyi C, Gaetani M, Rebane A, Liiv I, et al. The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression. EMBO Rep. 2008;9:370–6.
    • (2008) EMBO Rep , vol.9 , pp. 370-376
    • Org, T.1    Chignola, F.2    Hetenyi, C.3    Gaetani, M.4    Rebane, A.5    Liiv, I.6
  • 50
    • 56749174388 scopus 로고    scopus 로고
    • Aire employs a histone-binding module to mediate immunological tolerance, linking chromatin regulation with organ-specific autoimmunity
    • COI: 1:CAS:528:DC%2BD1cXht1yitrnF, PID: 18840680
    • Koh AS, Kuo AJ, Park SY, Cheung P, Abramson J, Bua D, et al. Aire employs a histone-binding module to mediate immunological tolerance, linking chromatin regulation with organ-specific autoimmunity. Proc Natl Acad Sci U S A. 2008;105:15878–83.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 15878-15883
    • Koh, A.S.1    Kuo, A.J.2    Park, S.Y.3    Cheung, P.4    Abramson, J.5    Bua, D.6
  • 51
    • 66249141300 scopus 로고    scopus 로고
    • The solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylation
    • COI: 1:CAS:528:DC%2BD1MXmtlOgt7Y%3D, PID: 19293276
    • Chignola F, Gaetani M, Rebane A, Org T, Mollica L, Zucchelli C, et al. The solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylation. Nucleic Acids Res. 2009;37:2951–61.
    • (2009) Nucleic Acids Res , vol.37 , pp. 2951-2961
    • Chignola, F.1    Gaetani, M.2    Rebane, A.3    Org, T.4    Mollica, L.5    Zucchelli, C.6
  • 52
    • 20744433548 scopus 로고    scopus 로고
    • Cooperative activation of transcription by autoimmune regulator AIRE and CBP
    • COI: 1:STN:280:DC%2BD2MzjsVSmsg%3D%3D, PID: 15964547
    • Pitkanen J, Rebane A, Rowell J, Murumagi A, Strobel P, Moll K, et al. Cooperative activation of transcription by autoimmune regulator AIRE and CBP. Biochem Biophys Res Commun. 2005;333:944–53.
    • (2005) Biochem Biophys Res Commun , vol.333 , pp. 944-953
    • Pitkanen, J.1    Rebane, A.2    Rowell, J.3    Murumagi, A.4    Strobel, P.5    Moll, K.6
  • 53
    • 80054065566 scopus 로고    scopus 로고
    • Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription
    • COI: 1:CAS:528:DC%2BC3MXht12rsr%2FM, PID: 21724609
    • Zumer K, Plemenitas A, Saksela K, Peterlin BM. Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription. Nucleic Acids Res. 2011;39:7908–19.
    • (2011) Nucleic Acids Res , vol.39 , pp. 7908-7919
    • Zumer, K.1    Plemenitas, A.2    Saksela, K.3    Peterlin, B.M.4
  • 54
    • 84855995571 scopus 로고    scopus 로고
    • Aire unleashes stalled RNA polymerase to induce ectopic gene expression in thymic epithelial cells
    • COI: 1:CAS:528:DC%2BC38Xht1ensLc%3D, PID: 22203960
    • Giraud M, Yoshida H, Abramson J, Rahl PB, Young RA, Mathis D, et al. Aire unleashes stalled RNA polymerase to induce ectopic gene expression in thymic epithelial cells. Proc Natl Acad Sci U S A. 2012;109:535–40.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. 535-540
    • Giraud, M.1    Yoshida, H.2    Abramson, J.3    Rahl, P.B.4    Young, R.A.5    Mathis, D.6
  • 55
    • 84893370802 scopus 로고    scopus 로고
    • An RNAi screen for Aire cofactors reveals a role for Hnrnpl in polymerase release and Aire-activated ectopic transcription
    • COI: 1:CAS:528:DC%2BC2cXhs1Shtrw%3D, PID: 24434558
    • Giraud M, Jmari N, Du L, Carallis F, Nieland TJ, Perez-Campo FM, et al. An RNAi screen for Aire cofactors reveals a role for Hnrnpl in polymerase release and Aire-activated ectopic transcription. Proc Natl Acad Sci U S A. 2014;111:1491–6.
    • (2014) Proc Natl Acad Sci U S A , vol.111 , pp. 1491-1496
    • Giraud, M.1    Jmari, N.2    Du, L.3    Carallis, F.4    Nieland, T.J.5    Perez-Campo, F.M.6
  • 56
    • 84931432951 scopus 로고    scopus 로고
    • The deacetylase Sirt1 is an essential regulator of Aire-mediated induction of central immunological tolerance
    • Chuprin A, Avin A, Goldfarb Y, Herzig Y, Levi B, Jacob A, et al. The deacetylase Sirt1 is an essential regulator of Aire-mediated induction of central immunological tolerance. Nat Immunol. 2015;16:737–45.
    • (2015) Nat Immunol , vol.16 , pp. 737-745
    • Chuprin, A.1    Avin, A.2    Goldfarb, Y.3    Herzig, Y.4    Levi, B.5    Jacob, A.6
  • 57
    • 84872711825 scopus 로고    scopus 로고
    • Post-Aire maturation of thymic medullary epithelial cells involves selective expression of keratinocyte-specific autoantigens
    • Wang X, Laan M, Bichele R, Kisand K, Scott HS, Peterson P. Post-Aire maturation of thymic medullary epithelial cells involves selective expression of keratinocyte-specific autoantigens. Front Immunol. 2012;3:1–16.
    • (2012) Front Immunol , vol.3
    • Wang, X.1    Laan, M.2    Bichele, R.3    Kisand, K.4    Scott, H.S.5    Peterson, P.6
  • 58
    • 78650376503 scopus 로고    scopus 로고
    • Contrasting models for the roles of Aire in the differentiation program of epithelial cells in the thymic medulla
    • COI: 1:CAS:528:DC%2BC3cXhsF2rsrbL, PID: 21182071
    • Matsumoto M. Contrasting models for the roles of Aire in the differentiation program of epithelial cells in the thymic medulla. Eur J Immunol. 2011;41:12–7.
    • (2011) Eur J Immunol , vol.41 , pp. 12-17
    • Matsumoto, M.1
  • 59
    • 84883679216 scopus 로고    scopus 로고
    • Which model better fits the role of aire in the establishment of self-tolerance: the transcription model or the maturation model?
    • COI: 1:CAS:528:DC%2BC3sXhtlGju7bP, PID: 23885257
    • Matsumoto M, Nishikawa Y, Nishijima H, Morimoto J, Matsumoto M, Mouri Y. Which model better fits the role of aire in the establishment of self-tolerance: the transcription model or the maturation model? Front Immunol. 2013;4:210.
    • (2013) Front Immunol , vol.4 , pp. 210
    • Matsumoto, M.1    Nishikawa, Y.2    Nishijima, H.3    Morimoto, J.4    Matsumoto, M.5    Mouri, Y.6
  • 60
    • 84895535431 scopus 로고    scopus 로고
    • The many faces of aire in central tolerance
    • PID: 24130560
    • Laan M, Peterson P. The many faces of aire in central tolerance. Front Immunol. 2013;4:326.
    • (2013) Front Immunol , vol.4 , pp. 326
    • Laan, M.1    Peterson, P.2
  • 61
    • 84895532029 scopus 로고    scopus 로고
    • Lymphopenia-induced proliferation in aire-deficient mice helps to explain their autoimmunity and differences from human patients
    • PID: 24592265
    • Kisand K, Peterson P, Laan M. Lymphopenia-induced proliferation in aire-deficient mice helps to explain their autoimmunity and differences from human patients. Front Immunol. 2014;5:51.
    • (2014) Front Immunol , vol.5 , pp. 51
    • Kisand, K.1    Peterson, P.2    Laan, M.3
  • 62
    • 84897508383 scopus 로고    scopus 로고
    • Temporal lineage tracing of Aire-expressing cells reveals a requirement for Aire in their maturation program
    • COI: 1:CAS:528:DC%2BC2cXjslGlsbk%3D, PID: 24516201
    • Nishikawa Y, Nishijima H, Matsumoto M, Morimoto J, Hirota F, Takahashi S, et al. Temporal lineage tracing of Aire-expressing cells reveals a requirement for Aire in their maturation program. J Immunol. 2014;192:2585–92.
    • (2014) J Immunol , vol.192 , pp. 2585-2592
    • Nishikawa, Y.1    Nishijima, H.2    Matsumoto, M.3    Morimoto, J.4    Hirota, F.5    Takahashi, S.6
  • 63
    • 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
    • COI: 1:CAS:528:DC%2BD1cXhsVClsLvL, PID: 18682433
    • Podkrajsek KT, Milenkovic T, Odink RJ, der Grinten HL C-v, Bratanic N, Hovnik T, et al. 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;159:633–9.
    • (2008) Eur J Endocrinol , vol.159 , pp. 633-639
    • Podkrajsek, K.T.1    Milenkovic, T.2    Odink, R.J.3    der Grinten HL, C.-V.4    Bratanic, N.5    Hovnik, T.6
  • 64
    • 40549116395 scopus 로고    scopus 로고
    • AIRE variations in Addison’s disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I
    • COI: 1:CAS:528:DC%2BD1cXivVOktL4%3D, PID: 18200029
    • Boe Wolff AS, Oftedal B, Johansson S, Bruland O, Lovas K, Meager A, et al. AIRE variations in Addison’s disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. Genes Immun. 2008;9:130–6.
    • (2008) Genes Immun , vol.9 , pp. 130-136
    • Boe Wolff, A.S.1    Oftedal, B.2    Johansson, S.3    Bruland, O.4    Lovas, K.5    Meager, A.6
  • 65
    • 1542269618 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity
    • COI: 1:CAS:528:DC%2BD2cXislalsLo%3D, PID: 15008965
    • Peterson P, Pitkanen J, Sillanpaa N, Krohn K. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity. Clin Exp Immunol. 2004;135:348–57.
    • (2004) Clin Exp Immunol , vol.135 , pp. 348-357
    • Peterson, P.1    Pitkanen, J.2    Sillanpaa, N.3    Krohn, K.4
  • 66
    • 25444446105 scopus 로고    scopus 로고
    • Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation
    • COI: 1:CAS:528:DC%2BD2MXhtFegt7vP, PID: 16114041
    • Ilmarinen T, Eskelin P, Halonen M, Ruppell T, Kilpikari R, Torres GD, et al. Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. Hum Mutat. 2005;26:322–31.
    • (2005) Hum Mutat , vol.26 , pp. 322-331
    • Ilmarinen, T.1    Eskelin, P.2    Halonen, M.3    Ruppell, T.4    Kilpikari, R.5    Torres, G.D.6
  • 67
    • 43049128502 scopus 로고    scopus 로고
    • Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire
    • COI: 1:CAS:528:DC%2BD1cXlsF2ntLg%3D, PID: 18414681
    • Su MA, Giang K, Zumer K, Jiang H, Oven I, Rinn JL, et al. Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire. J Clin Invest. 2008;118:1712–26.
    • (2008) J Clin Invest , vol.118 , pp. 1712-1726
    • Su, M.A.1    Giang, K.2    Zumer, K.3    Jiang, H.4    Oven, I.5    Rinn, J.L.6
  • 68
    • 18444378139 scopus 로고    scopus 로고
    • AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype
    • COI: 1:CAS:528:DC%2BD38XkvFakurk%3D, PID: 12050215
    • Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kampe O, et al. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab. 2002;87:2568–74.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 2568-2574
    • Halonen, M.1    Eskelin, P.2    Myhre, A.G.3    Perheentupa, J.4    Husebye, E.S.5    Kampe, O.6
  • 69
    • 77149147477 scopus 로고    scopus 로고
    • Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines
    • COI: 1:CAS:528:DC%2BC3cXitFGqtbc%3D, PID: 20123959
    • Kisand K, Boe Wolff AS, Podkrajsek KT, Tserel L, Link M, Kisand KV, et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med. 2010;207:299–308.
    • (2010) J Exp Med , vol.207 , pp. 299-308
    • Kisand, K.1    Boe Wolff, A.S.2    Podkrajsek, K.T.3    Tserel, L.4    Link, M.5    Kisand, K.V.6
  • 70
    • 79957573654 scopus 로고    scopus 로고
    • Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications
    • COI: 1:CAS:528:DC%2BC3MXmsFGisrY%3D, PID: 21574164
    • Kisand K, Lilic D, Casanova JL, Peterson P, Meager A, Willcox N. Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications. Eur J Immunol. 2011;41:1517–27.
    • (2011) Eur J Immunol , vol.41 , pp. 1517-1527
    • Kisand, K.1    Lilic, D.2    Casanova, J.L.3    Peterson, P.4    Meager, A.5    Willcox, N.6
  • 71
    • 64549115221 scopus 로고    scopus 로고
    • Clinical review 93: autoimmune polyglandular syndrome type 1
    • COI: 1:CAS:528:DyaK1cXitlyns7o%3D, PID: 9543115
    • Betterle C, Greggio NA, Volpato M. Clinical review 93: autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab. 1998;83:1049–55.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 1049-1055
    • Betterle, C.1    Greggio, N.A.2    Volpato, M.3
  • 72
    • 33646591901 scopus 로고    scopus 로고
    • Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
    • COI: 1:STN:280:DC%2BD283nsFeisw%3D%3D, PID: 16704638
    • Collins SM, Dominguez M, Ilmarinen T, Costigan C, Irvine AD. Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Br J Dermatol. 2006;154:1088–93.
    • (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
  • 73
    • 34249805682 scopus 로고    scopus 로고
    • Oral and oesophageal squamous cell carcinoma--a complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I)
    • PID: 16997613
    • Rautemaa R, Hietanen J, Niissalo S, Pirinen 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;43:607–13.
    • (2007) Oral Oncol , vol.43 , pp. 607-613
    • Rautemaa, R.1    Hietanen, J.2    Niissalo, S.3    Pirinen, S.4    Perheentupa, J.5
  • 74
    • 33749318470 scopus 로고    scopus 로고
    • Interleukin (IL)-22 and IL-17 are coexpressed by Th17 cells and cooperatively enhance expression of antimicrobial peptides
    • COI: 1:CAS:528:DC%2BD28XhtVGls7fF, PID: 16982811
    • Liang SC, Tan XY, Luxenberg DP, Karim R, Dunussi-Joannopoulos K, Collins M, et al. Interleukin (IL)-22 and IL-17 are coexpressed by Th17 cells and cooperatively enhance expression of antimicrobial peptides. J Exp Med. 2006;203:2271–9.
    • (2006) J Exp Med , vol.203 , pp. 2271-2279
    • Liang, S.C.1    Tan, X.Y.2    Luxenberg, D.P.3    Karim, R.4    Dunussi-Joannopoulos, K.5    Collins, M.6
  • 75
    • 79957851940 scopus 로고    scopus 로고
    • New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome
    • COI: 1:CAS:528:DC%2BC3MXns12ktrc%3D, PID: 21346738
    • Conti HR, Baker O, Freeman AF, Jang WS, Holland SM, Li RA, et al. New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome. Mucosal Immunol. 2011;4:448–55.
    • (2011) Mucosal Immunol , vol.4 , pp. 448-455
    • Conti, H.R.1    Baker, O.2    Freeman, A.F.3    Jang, W.S.4    Holland, S.M.5    Li, R.A.6
  • 76
    • 79955030498 scopus 로고    scopus 로고
    • Border patrol: regulation of immunity, inflammation and tissue homeostasis at barrier surfaces by IL-22
    • COI: 1:CAS:528:DC%2BC3MXkvVKqsLg%3D, PID: 21502992
    • Sonnenberg GF, Fouser LA, Artis D. Border patrol: regulation of immunity, inflammation and tissue homeostasis at barrier surfaces by IL-22. Nat Immunol. 2011;12:383–90.
    • (2011) Nat Immunol , vol.12 , pp. 383-390
    • Sonnenberg, G.F.1    Fouser, L.A.2    Artis, D.3
  • 77
    • 79959724313 scopus 로고    scopus 로고
    • IL-22 and TNF-alpha represent a key cytokine combination for epidermal integrity during infection with Candida albicans
    • COI: 1:CAS:528:DC%2BC3MXnvF2gsbo%3D, PID: 21469124
    • Eyerich S, Wagener J, Wenzel V, Scarponi C, Pennino D, Albanesi C, et al. IL-22 and TNF-alpha represent a key cytokine combination for epidermal integrity during infection with Candida albicans. Eur J Immunol. 2011;41:1894–901.
    • (2011) Eur J Immunol , vol.41 , pp. 1894-1901
    • Eyerich, S.1    Wagener, J.2    Wenzel, V.3    Scarponi, C.4    Pennino, D.5    Albanesi, C.6
  • 78
    • 79961154447 scopus 로고    scopus 로고
    • Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis
    • COI: 1:CAS:528:DC%2BC3MXhtVSit73F, PID: 21727188
    • Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011;208:1635–48.
    • (2011) J Exp Med , vol.208 , pp. 1635-1648
    • Liu, L.1    Okada, S.2    Kong, X.F.3    Kreins, A.Y.4    Cypowyj, S.5    Abhyankar, A.6
  • 79
    • 53949090557 scopus 로고    scopus 로고
    • Patients with chronic mucocutaneous candidiasis exhibit reduced production of Th17-associated cytokines IL-17 and IL-22
    • COI: 1:CAS:528:DC%2BD1cXht1CmsLvO, PID: 18615114
    • Eyerich K, Foerster S, Rombold S, Seidl HP, Behrendt H, Hofmann H, et al. Patients with chronic mucocutaneous candidiasis exhibit reduced production of Th17-associated cytokines IL-17 and IL-22. J Invest Dermatol. 2008;128:2640–5.
    • (2008) J Invest Dermatol , vol.128 , pp. 2640-2645
    • Eyerich, K.1    Foerster, S.2    Rombold, S.3    Seidl, H.P.4    Behrendt, H.5    Hofmann, H.6
  • 80
    • 78650328690 scopus 로고    scopus 로고
    • Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model
    • COI: 1:CAS:528:DC%2BC3cXhsF2rsrfJ, PID: 21182094
    • Ahlgren KM, Moretti S, Lundgren BA, Karlsson I, Ahlin E, Norling A, et al. Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. Eur J Immunol. 2011;41:235–45.
    • (2011) Eur J Immunol , vol.41 , pp. 235-245
    • Ahlgren, K.M.1    Moretti, S.2    Lundgren, B.A.3    Karlsson, I.4    Ahlin, E.5    Norling, A.6
  • 81
    • 78049471655 scopus 로고    scopus 로고
    • Impaired T(H)17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • COI: 1:CAS:528:DC%2BC3cXhtlykurjO, PID: 20934207
    • Ng WF, von Delwig A, Carmichael AJ, Arkwright PD, Abinun M, Cant AJ, et al. Impaired T(H)17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Allergy Clin Immunol. 2010;126:1006–15.
    • (2010) J Allergy Clin Immunol , vol.126 , pp. 1006-1015
    • Ng, W.F.1    von Delwig, A.2    Carmichael, A.J.3    Arkwright, P.D.4    Abinun, M.5    Cant, A.J.6
  • 82
    • 84912091121 scopus 로고    scopus 로고
    • In vivo analysis of helper T cell responses in patients with autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy provides evidence in support of an IL-22 defect
    • COI: 1:CAS:528:DC%2BC2cXitVSisrjK, PID: 24957984
    • Laakso SM, Kekalainen E, Heikkila N, Mannerstrom H, Kisand K, Peterson P, et al. In vivo analysis of helper T cell responses in patients with autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy provides evidence in support of an IL-22 defect. Autoimmunity. 2014;47:556–62.
    • (2014) Autoimmunity , vol.47 , pp. 556-562
    • Laakso, S.M.1    Kekalainen, E.2    Heikkila, N.3    Mannerstrom, H.4    Kisand, K.5    Peterson, P.6
  • 83
    • 84898838687 scopus 로고    scopus 로고
    • Autoantibodies to IL-17A may be correlated with the severity of mucocutaneous candidiasis in APECED patients
    • COI: 1:CAS:528:DC%2BC2cXjtlSjt70%3D, PID: 24493573
    • Sarkadi AK, Tasko S, Csorba G, Toth B, Erdos M, Marodi L. Autoantibodies to IL-17A may be correlated with the severity of mucocutaneous candidiasis in APECED patients. J Clin Immunol. 2014;34:181–93.
    • (2014) J Clin Immunol , vol.34 , pp. 181-193
    • Sarkadi, A.K.1    Tasko, S.2    Csorba, G.3    Toth, B.4    Erdos, M.5    Marodi, L.6
  • 84
    • 79953025343 scopus 로고    scopus 로고
    • Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
    • COI: 1:CAS:528:DC%2BC3MXjvV2ls7c%3D, PID: 21295522
    • Mazza C, Buzi F, Ortolani F, Vitali A, Notarangelo LD, Weber G, et al. Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Clin Immunol. 2011;139:6–11.
    • (2011) Clin Immunol , vol.139 , pp. 6-11
    • Mazza, C.1    Buzi, F.2    Ortolani, F.3    Vitali, A.4    Notarangelo, L.D.5    Weber, G.6
  • 85
    • 0038113145 scopus 로고    scopus 로고
    • Update on autoimmune polyendocrine syndromes (APS)
    • PID: 12817789
    • Betterle C, Zanchetta R. Update on autoimmune polyendocrine syndromes (APS). Acta Biomed. 2003;74:9–33.
    • (2003) Acta Biomed , vol.74 , pp. 9-33
    • Betterle, C.1    Zanchetta, R.2
  • 86
    • 77952310454 scopus 로고    scopus 로고
    • Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations
    • COI: 1:CAS:528:DC%2BC3cXlvVWhsL8%3D, PID: 20407228
    • Orlova EM, Bukina AM, Kuznetsova ES, Kareva MA, Zakharova EU, Peterkova VA, et al. Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. Horm Res Paediatr. 2010;73:449–57.
    • (2010) Horm Res Paediatr , vol.73 , pp. 449-457
    • Orlova, E.M.1    Bukina, A.M.2    Kuznetsova, E.S.3    Kareva, M.A.4    Zakharova, E.U.5    Peterkova, V.A.6
  • 87
    • 77958070140 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies
    • COI: 1:CAS:528:DC%2BC3cXht1yjs73P, PID: 20453472
    • Proust-Lemoine E, Saugier-Veber P, Lefranc D, Dubucquoi S, Ryndak A, Buob D, et al. Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. Horm Res Paediatr. 2010;74:275–84.
    • (2010) Horm Res Paediatr , vol.74 , pp. 275-284
    • Proust-Lemoine, E.1    Saugier-Veber, P.2    Lefranc, D.3    Dubucquoi, S.4    Ryndak, A.5    Buob, D.6
  • 88
    • 10744230766 scopus 로고    scopus 로고
    • The hypoparathyroidism of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protective effect of male sex
    • COI: 1:CAS:528:DC%2BD3sXoslemsbg%3D, PID: 14557429
    • Gylling M, Kaariainen E, Vaisanen R, Kerosuo L, Solin ML, Halme L, et al. The hypoparathyroidism of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protective effect of male sex. J Clin Endocrinol Metab. 2003;88:4602–8.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 4602-4608
    • Gylling, M.1    Kaariainen, E.2    Vaisanen, R.3    Kerosuo, L.4    Solin, M.L.5    Halme, L.6
  • 89
    • 84907020081 scopus 로고    scopus 로고
    • High frequency of cytolytic 21-hydroxylase-specific CD8+ T cells in autoimmune Addison’s disease patients
    • COI: 1:CAS:528:DC%2BC2cXhtlOnurfO, PID: 25063864
    • Dawoodji A, Chen JL, Shepherd D, Dalin F, Tarlton A, Alimohammadi M, et al. High frequency of cytolytic 21-hydroxylase-specific CD8+ T cells in autoimmune Addison’s disease patients. J Immunol. 2014;193:2118–26.
    • (2014) J Immunol , vol.193 , pp. 2118-2126
    • Dawoodji, A.1    Chen, J.L.2    Shepherd, D.3    Dalin, F.4    Tarlton, A.5    Alimohammadi, M.6
  • 90
    • 73249117223 scopus 로고    scopus 로고
    • T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency
    • COI: 1:CAS:528:DC%2BD1MXhsFyltb3M, PID: 19890026
    • Bratland E, Skinningsrud B, Undlien DE, Mozes E, Husebye ES. T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency. J Clin Endocrinol Metab. 2009;94:5117–24.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 5117-5124
    • Bratland, E.1    Skinningsrud, B.2    Undlien, D.E.3    Mozes, E.4    Husebye, E.S.5
  • 91
    • 77958153605 scopus 로고    scopus 로고
    • 21-Hydroxylase epitopes are targeted by CD8 T cells in autoimmune Addison’s disease
    • COI: 1:CAS:528:DC%2BC3cXhtlCgtrvL, PID: 20685079
    • Rottembourg D, Deal C, Lambert M, Mallone R, Carel JC, Lacroix A, et al. 21-Hydroxylase epitopes are targeted by CD8 T cells in autoimmune Addison’s disease. J Autoimmun. 2010;35:309–15.
    • (2010) J Autoimmun , vol.35 , pp. 309-315
    • Rottembourg, D.1    Deal, C.2    Lambert, M.3    Mallone, R.4    Carel, J.C.5    Lacroix, A.6
  • 92
    • 0017816545 scopus 로고
    • Malignant disease presenting as Addison’s disease
    • COI: 1:STN:280:DyaE1c7ovVWnuw%3D%3D, PID: 656825
    • Rosenthal FD, Davies MK, Burden AC. Malignant disease presenting as Addison’s disease. Br Med J. 1978;1:1591–2.
    • (1978) Br Med J , vol.1 , pp. 1591-1592
    • Rosenthal, F.D.1    Davies, M.K.2    Burden, A.C.3
  • 93
    • 79952070503 scopus 로고    scopus 로고
    • Cellular immunity and immunopathology in autoimmune Addison’s disease
    • COI: 1:CAS:528:DC%2BC3MXjsFCnt7Y%3D, PID: 21167251
    • Bratland E, Husebye ES. Cellular immunity and immunopathology in autoimmune Addison’s disease. Mol Cell Endocrinol. 2011;336:180–90.
    • (2011) Mol Cell Endocrinol , vol.336 , pp. 180-190
    • Bratland, E.1    Husebye, E.S.2
  • 94
    • 10744233772 scopus 로고    scopus 로고
    • Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I
    • PID: 14764761
    • Soderbergh A, Myhre AG, Ekwall O, Gebre-Medhin G, Hedstrand H, Landgren E, et al. Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab. 2004;89:557–62.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 557-562
    • Soderbergh, A.1    Myhre, A.G.2    Ekwall, O.3    Gebre-Medhin, G.4    Hedstrand, H.5    Landgren, E.6
  • 95
    • 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
    • COI: 1:STN:280:DyaK2c7kvFWgsw%3D%3D, PID: 8106620
    • Uibo R, Aavik E, Peterson P, Perheentupa J, Aranko S, Pelkonen R, et al. 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;78:323–8.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 323-328
    • Uibo, R.1    Aavik, E.2    Peterson, P.3    Perheentupa, J.4    Aranko, S.5    Pelkonen, R.6
  • 96
    • 0028000133 scopus 로고
    • Autoimmune Addison’s disease--evidence for a role of steroid 21-hydroxylase autoantibodies in adrenal insufficiency
    • COI: 1:CAS:528:DyaK2MXit1ektL8%3D, PID: 7962352
    • Furmaniak J, Kominami S, Asawa T, Wedlock N, Colls J, Smith BR. Autoimmune Addison’s disease--evidence for a role of steroid 21-hydroxylase autoantibodies in adrenal insufficiency. J Clin Endocrinol Metab. 1994;79:1517–21.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1517-1521
    • Furmaniak, J.1    Kominami, S.2    Asawa, T.3    Wedlock, N.4    Colls, J.5    Smith, B.R.6
  • 97
    • 0026552977 scopus 로고
    • Identification by molecular cloning of an autoantigen associated with Addison’s disease as steroid 17 alpha-hydroxylase
    • COI: 1:STN:280:DyaK387psVyrsw%3D%3D, PID: 1347802
    • Krohn K, Uibo R, Aavik E, Peterson P, Savilahti K. Identification by molecular cloning of an autoantigen associated with Addison’s disease as steroid 17 alpha-hydroxylase. Lancet. 1992;339:770–3.
    • (1992) Lancet , vol.339 , pp. 770-773
    • Krohn, K.1    Uibo, R.2    Aavik, E.3    Peterson, P.4    Savilahti, K.5
  • 98
    • 0026762562 scopus 로고
    • 21-Hydroxylase, a major autoantigen in idiopathic Addison’s disease
    • COI: 1:STN:280:DyaK38zgtFWhug%3D%3D, PID: 1351548
    • Winqvist O, Karlsson FA, Kampe O. 21-Hydroxylase, a major autoantigen in idiopathic Addison’s disease. Lancet. 1992;339:1559–62.
    • (1992) Lancet , vol.339 , pp. 1559-1562
    • Winqvist, O.1    Karlsson, F.A.2    Kampe, O.3
  • 99
    • 0027366956 scopus 로고
    • Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison’s disease
    • COI: 1:STN:280:DyaK2c%2FktlOmtA%3D%3D, PID: 8227354
    • Winqvist O, Gustafsson J, Rorsman F, Karlsson FA, Kampe O. Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison’s disease. J Clin Invest. 1993;92:2377–85.
    • (1993) J Clin Invest , vol.92 , pp. 2377-2385
    • Winqvist, O.1    Gustafsson, J.2    Rorsman, F.3    Karlsson, F.A.4    Kampe, O.5
  • 100
    • 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
    • PID: 12000475
    • Smith D, Stringer MD, Wyatt J, O’Meara M, Davison S, Cheetham TD, et al. Orthotopic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1. Pediatr Transplant. 2002;6:166–70.
    • (2002) Pediatr Transplant , vol.6 , pp. 166-170
    • Smith, D.1    Stringer, M.D.2    Wyatt, J.3    O’Meara, M.4    Davison, S.5    Cheetham, T.D.6
  • 101
    • 84937910552 scopus 로고    scopus 로고
    • Immunomodulatory therapy for severe autoimmune polyendocrinopathy type-1 (APS-1)
    • Abinun M, Hodges S, Cheetham T, Ognjanovic M, Hopper N, Burt A, et al. Immunomodulatory therapy for severe autoimmune polyendocrinopathy type-1 (APS-1). J Clin Immunol. 2014;34 Suppl 2:S202.
    • (2014) J Clin Immunol , vol.34 , pp. S202
    • Abinun, M.1    Hodges, S.2    Cheetham, T.3    Ognjanovic, M.4    Hopper, N.5    Burt, A.6
  • 102
    • 0028347533 scopus 로고
    • Chronic active hepatitis in the type I polyglandular autoimmune syndrome
    • COI: 1:STN:280:DyaK2c3isVOisA%3D%3D, PID: 8170886
    • Michele TM, Fleckenstein J, Sgrignoli AR, Thuluvath PJ. Chronic active hepatitis in the type I polyglandular autoimmune syndrome. Postgrad Med J. 1994;70:128–31.
    • (1994) Postgrad Med J , vol.70 , pp. 128-131
    • Michele, T.M.1    Fleckenstein, J.2    Sgrignoli, A.R.3    Thuluvath, P.J.4
  • 103
    • 0029781657 scopus 로고    scopus 로고
    • Liver disease in polyglandular autoimmune disease type one: clinicopathologic study of three patients and review of the literature
    • COI: 1:STN:280:DyaK2s7nvVCltA%3D%3D, PID: 9025859
    • 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;16:625–36.
    • (1996) Pediatr Pathol Lab Med , vol.16 , pp. 625-636
    • Goldstein, N.S.1    Rosenthal, P.2    Sinatra, F.3    Dehner, L.P.4
  • 104
    • 0034823985 scopus 로고    scopus 로고
    • Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • COI: 1:CAS:528:DC%2BD3MXntVKnsbY%3D, PID: 11522751
    • Obermayer-Straub P, Perheentupa J, Braun S, Kayser A, Barut A, Loges S, et al. Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Gastroenterology. 2001;121:668–77.
    • (2001) Gastroenterology , vol.121 , pp. 668-677
    • Obermayer-Straub, P.1    Perheentupa, J.2    Braun, S.3    Kayser, A.4    Barut, A.5    Loges, S.6
  • 105
    • 84900793173 scopus 로고    scopus 로고
    • Absence of some common organ-specific and non-organ-specific autoimmunity in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
    • COI: 1:CAS:528:DC%2BC3sXktV2hs70%3D, PID: 23781320
    • Kluger N, Krohn K, Ranki A. Absence of some common organ-specific and non-organ-specific autoimmunity in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. Endocr Connect. 2013;2:61–8.
    • (2013) Endocr Connect , vol.2 , pp. 61-68
    • Kluger, N.1    Krohn, K.2    Ranki, A.3
  • 106
    • 0030837075 scopus 로고    scopus 로고
    • Cytochrome P450IA2 and aromatic L-amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type I
    • COI: 1:CAS:528:DyaK2sXltVGjtLg%3D, PID: 9276443
    • Gebre-Medhin G, Husebye ES, Gustafsson J, Winqvist O, Goksoyr A, Rorsman F, et al. Cytochrome P450IA2 and aromatic L-amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type I. FEBS Lett. 1997;412:439–45.
    • (1997) FEBS Lett , vol.412 , pp. 439-445
    • Gebre-Medhin, G.1    Husebye, E.S.2    Gustafsson, J.3    Winqvist, O.4    Goksoyr, A.5    Rorsman, F.6
  • 108
    • 0031890201 scopus 로고    scopus 로고
    • Two cytochromes P450 are major hepatocellular autoantigens in autoimmune polyglandular syndrome type 1
    • COI: 1:STN:280:DyaK1c7hsVagug%3D%3D, PID: 9453493
    • Clemente MG, Meloni A, Obermayer-Straub P, Frau F, Manns MP, De Virgiliis S. Two cytochromes P450 are major hepatocellular autoantigens in autoimmune polyglandular syndrome type 1. Gastroenterology. 1998;114:324–8.
    • (1998) Gastroenterology , vol.114 , pp. 324-328
    • Clemente, M.G.1    Meloni, A.2    Obermayer-Straub, P.3    Frau, F.4    Manns, M.P.5    De Virgiliis, S.6
  • 109
    • 84872941474 scopus 로고    scopus 로고
    • Gastrointestinal manifestations in APECED syndrome
    • COI: 1:CAS:528:DC%2BC3sXovVShug%3D%3D, PID: 23314667
    • Kluger N, Jokinen M, Krohn K, Ranki A. Gastrointestinal manifestations in APECED syndrome. J Clin Gastroenterol. 2013;47:112–20.
    • (2013) J Clin Gastroenterol , vol.47 , pp. 112-120
    • Kluger, N.1    Jokinen, M.2    Krohn, K.3    Ranki, A.4
  • 110
    • 0032988183 scopus 로고    scopus 로고
    • Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy
    • COI: 1:CAS:528:DyaK1MXhvFegtLo%3D, PID: 10084559
    • Ward L, Paquette J, Seidman E, Huot C, Alvarez F, Crock P, et al. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: response to immunosuppressive therapy. J Clin Endocrinol Metab. 1999;84:844–52.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 844-852
    • Ward, L.1    Paquette, J.2    Seidman, E.3    Huot, C.4    Alvarez, F.5    Crock, P.6
  • 111
    • 84856795618 scopus 로고    scopus 로고
    • Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction
    • COI: 1:STN:280:DC%2BC383gslSnsw%3D%3D, PID: 22162465
    • Posovszky C, Lahr G, von Schnurbein J, Buderus S, Findeisen A, Schroder C, et al. Loss of enteroendocrine cells in autoimmune-polyendocrine-candidiasis-ectodermal-dystrophy (APECED) syndrome with gastrointestinal dysfunction. J Clin Endocrinol Metab. 2012;97:E292–300.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. E292-E300
    • Posovszky, C.1    Lahr, G.2    von Schnurbein, J.3    Buderus, S.4    Findeisen, A.5    Schroder, C.6
  • 112
    • 84873635069 scopus 로고    scopus 로고
    • Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1
    • COI: 1:CAS:528:DC%2BC3sXjtlOksLs%3D, PID: 23365130
    • Scarpa R, Alaggio R, Norberto L, Furmaniak J, Chen S, Smith BR, et al. Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab. 2013;98:704–12.
    • (2013) J Clin Endocrinol Metab , vol.98 , pp. 704-712
    • Scarpa, R.1    Alaggio, R.2    Norberto, L.3    Furmaniak, J.4    Chen, S.5    Smith, B.R.6
  • 113
    • 0038100211 scopus 로고    scopus 로고
    • Autoimmunity to gastrointestinal endocrine cells in autoimmune polyendocrine syndrome type I
    • PID: 12679419
    • Gianani R, Eisenbarth GS. Autoimmunity to gastrointestinal endocrine cells in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab. 2003;88:1442–4.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 1442-1444
    • Gianani, R.1    Eisenbarth, G.S.2
  • 114
    • 79959911030 scopus 로고    scopus 로고
    • Classification and functions of enteroendocrine cells of the lower gastrointestinal tract
    • COI: 1:CAS:528:DC%2BC3MXhtV2qsbvL, PID: 21518048
    • Gunawardene AR, Corfe BM, Staton CA. Classification and functions of enteroendocrine cells of the lower gastrointestinal tract. Int J Exp Pathol. 2011;92:219–31.
    • (2011) Int J Exp Pathol , vol.92 , pp. 219-231
    • Gunawardene, A.R.1    Corfe, B.M.2    Staton, C.A.3
  • 115
    • 17144464701 scopus 로고    scopus 로고
    • Histidine decarboxylase, a pyridoxal phosphate-dependent enzyme, is an autoantigen of gastric enterochromaffin-like cells
    • COI: 1:CAS:528:DC%2BD3sXjtFCmu7c%3D, PID: 12679420
    • Skoldberg F, Portela-Gomes GM, Grimelius L, Nilsson G, Perheentupa J, Betterle C, et al. Histidine decarboxylase, a pyridoxal phosphate-dependent enzyme, is an autoantigen of gastric enterochromaffin-like cells. J Clin Endocrinol Metab. 2003;88:1445–52.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 1445-1452
    • Skoldberg, F.1    Portela-Gomes, G.M.2    Grimelius, L.3    Nilsson, G.4    Perheentupa, J.5    Betterle, C.6
  • 116
    • 0032566209 scopus 로고    scopus 로고
    • Identification of tryptophan hydroxylase as an intestinal autoantigen
    • COI: 1:CAS:528:DyaK1cXltlegsbw%3D, PID: 9690408
    • Ekwall O, Hedstrand H, Grimelius L, Haavik J, Perheentupa J, Gustafsson J, et al. Identification of tryptophan hydroxylase as an intestinal autoantigen. Lancet. 1998;352:279–83.
    • (1998) Lancet , vol.352 , pp. 279-283
    • Ekwall, O.1    Hedstrand, H.2    Grimelius, L.3    Haavik, J.4    Perheentupa, J.5    Gustafsson, J.6
  • 117
    • 0035945665 scopus 로고    scopus 로고
    • Malabsorption due to cholecystokinin deficiency in a patient with autoimmune polyglandular syndrome type I
    • COI: 1:STN:280:DC%2BD3M%2FpsVGrsA%3D%3D, PID: 11172154
    • Hogenauer C, Meyer RL, Netto GJ, Bell D, Little KH, Ferries L, et al. Malabsorption due to cholecystokinin deficiency in a patient with autoimmune polyglandular syndrome type I. N Engl J Med. 2001;344:270–4.
    • (2001) N Engl J Med , vol.344 , pp. 270-274
    • Hogenauer, C.1    Meyer, R.L.2    Netto, G.J.3    Bell, D.4    Little, K.H.5    Ferries, L.6
  • 118
    • 84931412671 scopus 로고    scopus 로고
    • Gastrointestinal autoimmunity associated with loss of central tolerance to enteric alpha-defensins
    • Dobes J, Neuwirth A, Dobesova M, Voboril M, Balounova J, Ballek O, et al. Gastrointestinal autoimmunity associated with loss of central tolerance to enteric alpha-defensins. Gastroenterology. 2015;149:139–50.
    • (2015) Gastroenterology , vol.149 , pp. 139-150
    • Dobes, J.1    Neuwirth, A.2    Dobesova, M.3    Voboril, M.4    Balounova, J.5    Ballek, O.6
  • 119
    • 0034614519 scopus 로고    scopus 로고
    • Identification of tyrosine hydroxylase as an autoantigen in autoimmune polyendocrine syndrome type I
    • COI: 1:CAS:528:DC%2BD3cXht1GksQ%3D%3D, PID: 10623641
    • Hedstrand H, Ekwall O, Haavik J, Landgren E, Betterle C, Perheentupa J, et al. Identification of tyrosine hydroxylase as an autoantigen in autoimmune polyendocrine syndrome type I. Biochem Biophys Res Commun. 2000;267:456–61.
    • (2000) Biochem Biophys Res Commun , vol.267 , pp. 456-461
    • Hedstrand, H.1    Ekwall, O.2    Haavik, J.3    Landgren, E.4    Betterle, C.5    Perheentupa, J.6
  • 120
    • 0035929680 scopus 로고    scopus 로고
    • The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrine syndrome type I
    • COI: 1:CAS:528:DC%2BD3MXntFaiu7s%3D, PID: 11423552
    • Hedstrand H, Ekwall O, Olsson MJ, Landgren E, Kemp EH, Weetman AP, et al. The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrine syndrome type I. J Biol Chem. 2001;276:35390–5.
    • (2001) J Biol Chem , vol.276 , pp. 35390-35395
    • Hedstrand, H.1    Ekwall, O.2    Olsson, M.J.3    Landgren, E.4    Kemp, E.H.5    Weetman, A.P.6
  • 121
    • 79251578613 scopus 로고    scopus 로고
    • Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy
    • PID: 21197407
    • Al-Owain M, Kaya N, Al-Zaidan H, Bin Hussain I, Al-Manea H, Al-Hindi H, et al. Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy. Clin Dev Immunol. 2010;2010:586342.
    • (2010) Clin Dev Immunol , vol.2010 , pp. 586342
    • Al-Owain, M.1    Kaya, N.2    Al-Zaidan, H.3    Bin Hussain, I.4    Al-Manea, H.5    Al-Hindi, H.6
  • 122
    • 30344444284 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity
    • COI: 1:CAS:528:DC%2BD28Xms1antg%3D%3D, PID: 16263818
    • Ulinski T, Perrin L, Morris M, Houang M, Cabrol S, Grapin C, et al. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity. J Clin Endocrinol Metab. 2006;91:192–5.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 192-195
    • Ulinski, T.1    Perrin, L.2    Morris, M.3    Houang, M.4    Cabrol, S.5    Grapin, C.6
  • 123
    • 63149126091 scopus 로고    scopus 로고
    • Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen
    • COI: 1:CAS:528:DC%2BD1MXjslyhs7c%3D, PID: 19251657
    • Alimohammadi M, Dubois N, Skoldberg F, Hallgren A, Tardivel I, Hedstrand H, et al. Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. Proc Natl Acad Sci U S A. 2009;106:4396–401.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 4396-4401
    • Alimohammadi, M.1    Dubois, N.2    Skoldberg, F.3    Hallgren, A.4    Tardivel, I.5    Hedstrand, H.6
  • 124
    • 84155167273 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab
    • PID: 21901851
    • Popler J, Alimohammadi M, Kampe O, Dalin F, Dishop MK, Barker JM, et al. Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. Pediatr Pulmonol. 2012;47:84–7.
    • (2012) Pediatr Pulmonol , vol.47 , pp. 84-87
    • Popler, J.1    Alimohammadi, M.2    Kampe, O.3    Dalin, F.4    Dishop, M.K.5    Barker, J.M.6
  • 126
    • 84861134199 scopus 로고    scopus 로고
    • Defective autoimmune regulator-dependent central tolerance to myelin protein zero is linked to autoimmune peripheral neuropathy
    • COI: 1:CAS:528:DC%2BC38XmsVGlsLo%3D, PID: 22490868
    • Su MA, Davini D, Cheng P, Giang K, Fan U, DeVoss JJ, et al. Defective autoimmune regulator-dependent central tolerance to myelin protein zero is linked to autoimmune peripheral neuropathy. J Immunol. 2012;188:4906–12.
    • (2012) J Immunol , vol.188 , pp. 4906-4912
    • Su, M.A.1    Davini, D.2    Cheng, P.3    Giang, K.4    Fan, U.5    DeVoss, J.J.6
  • 127
    • 79959971539 scopus 로고    scopus 로고
    • Post-splenectomy and hyposplenic states
    • PID: 21474172
    • Di Sabatino A, Carsetti R, Corazza GR. Post-splenectomy and hyposplenic states. Lancet. 2011;378:86–97.
    • (2011) Lancet , vol.378 , pp. 86-97
    • Di Sabatino, A.1    Carsetti, R.2    Corazza, G.R.3
  • 128
    • 73249139163 scopus 로고    scopus 로고
    • Functional autoantibodies cause hypoparathyroidism
    • COI: 1:CAS:528:DC%2BD1MXhsFyltLjF, PID: 19959750
    • Husebye ES. Functional autoantibodies cause hypoparathyroidism. J Clin Endocrinol Metab. 2009;94:4655–7.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 4655-4657
    • Husebye, E.S.1
  • 129
    • 84920774692 scopus 로고    scopus 로고
    • Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature
    • PID: 25361846
    • Improda N, Capalbo D, Cirillo E, Cerbone M, Esposito A, Pignata C, et al. Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. BMC Pediatr. 2014;14:272.
    • (2014) BMC Pediatr , vol.14 , pp. 272
    • Improda, N.1    Capalbo, D.2    Cirillo, E.3    Cerbone, M.4    Esposito, A.5    Pignata, C.6
  • 130
    • 55149102403 scopus 로고    scopus 로고
    • Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense
    • COI: 1:CAS:528:DC%2BD1MXhsFGls77N, PID: 19161414
    • Zhang SY, Boisson-Dupuis S, Chapgier A, Yang K, Bustamante J, Puel A, et al. Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense. Immunol Rev. 2008;226:29–40.
    • (2008) Immunol Rev , vol.226 , pp. 29-40
    • Zhang, S.Y.1    Boisson-Dupuis, S.2    Chapgier, A.3    Yang, K.4    Bustamante, J.5    Puel, A.6
  • 131
    • 79961124370 scopus 로고    scopus 로고
    • Measuring autoantibodies against IL-17F and IL-22 in autoimmune polyendocrine syndrome type I by radioligand binding assay using fusion proteins
    • COI: 1:CAS:528:DC%2BC3MXht1Shtr3P, PID: 21535082
    • Oftedal BE, Kampe O, Meager A, Ahlgren KM, Lobell A, Husebye ES, et al. Measuring autoantibodies against IL-17F and IL-22 in autoimmune polyendocrine syndrome type I by radioligand binding assay using fusion proteins. Scand J Immunol. 2011;74:327–33.
    • (2011) Scand J Immunol , vol.74 , pp. 327-333
    • Oftedal, B.E.1    Kampe, O.2    Meager, A.3    Ahlgren, K.M.4    Lobell, A.5    Husebye, E.S.6
  • 132
    • 40449109084 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
    • COI: 1:CAS:528:DC%2BD1cXjtVahtLg%3D, PID: 18322283
    • Alimohammadi M, Bjorklund P, Hallgren A, Pontynen N, Szinnai G, Shikama N, et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med. 2008;358:1018–28.
    • (2008) N Engl J Med , vol.358 , pp. 1018-1028
    • Alimohammadi, M.1    Bjorklund, P.2    Hallgren, A.3    Pontynen, N.4    Szinnai, G.5    Shikama, N.6
  • 133
    • 34347271707 scopus 로고    scopus 로고
    • The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1
    • COI: 1:CAS:528:DC%2BD2sXmslOhurc%3D, PID: 17374709
    • Gavalas NG, Kemp EH, Krohn KJ, Brown EM, Watson PF, Weetman AP. The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab. 2007;92:2107–14.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 2107-2114
    • Gavalas, N.G.1    Kemp, E.H.2    Krohn, K.J.3    Brown, E.M.4    Watson, P.F.5    Weetman, A.P.6
  • 134
    • 84895783717 scopus 로고    scopus 로고
    • Prevalence and clinical associations of calcium-sensing receptor and NALP5 autoantibodies in Finnish APECED patients
    • COI: 1:CAS:528:DC%2BC2cXksFWrsr8%3D, PID: 24423312
    • Kemp EH, Habibullah M, Kluger N, Ranki A, Sandhu HK, Krohn KJ, et al. Prevalence and clinical associations of calcium-sensing receptor and NALP5 autoantibodies in Finnish APECED patients. J Clin Endocrinol Metab. 2014;99:1064–71.
    • (2014) J Clin Endocrinol Metab , vol.99 , pp. 1064-1071
    • Kemp, E.H.1    Habibullah, M.2    Kluger, N.3    Ranki, A.4    Sandhu, H.K.5    Krohn, K.J.6
  • 135
    • 52449129246 scopus 로고    scopus 로고
    • Do NALP5 antibodies correlate with hypoparathyroidism in patients with APS-1?
    • COI: 1:CAS:528:DC%2BD1cXhtFemsbbO, PID: 18711407
    • Eisenbarth GS. Do NALP5 antibodies correlate with hypoparathyroidism in patients with APS-1? Nat Clin Pract Endocrinol Metab. 2008;4:544–5.
    • (2008) Nat Clin Pract Endocrinol Metab , vol.4 , pp. 544-545
    • Eisenbarth, G.S.1
  • 136
    • 0034351867 scopus 로고    scopus 로고
    • ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • COI: 1:CAS:528:DC%2BD3MXis1Cguw%3D%3D, PID: 11134089
    • Gylling M, Tuomi T, Bjorses P, Kontiainen S, Partanen J, Christie MR, et al. ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2000;85:4434–40.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 4434-4440
    • Gylling, M.1    Tuomi, T.2    Bjorses, P.3    Kontiainen, S.4    Partanen, J.5    Christie, M.R.6
  • 137
    • 84876300670 scopus 로고    scopus 로고
    • Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity
    • COI: 1:CAS:528:DC%2BC38Xhsleisb3I, PID: 23182718
    • Bratland E, Magitta NF, Boe Wolff AS, Ekern T, Knappskog PM, Kampe O, et al. Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity. Immunobiology. 2013;218:899–909.
    • (2013) Immunobiology , vol.218 , pp. 899-909
    • Bratland, E.1    Magitta, N.F.2    Boe Wolff, A.S.3    Ekern, T.4    Knappskog, P.M.5    Kampe, O.6
  • 138
    • 0031033052 scopus 로고    scopus 로고
    • Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I
    • COI: 1:CAS:528:DyaK2sXkt1WrtA%3D%3D, PID: 8989249
    • Husebye ES, Gebre-Medhin G, Tuomi T, Perheentupa J, Landin-Olsson M, Gustafsson J, et al. Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab. 1997;82:147–50.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 147-150
    • Husebye, E.S.1    Gebre-Medhin, G.2    Tuomi, T.3    Perheentupa, J.4    Landin-Olsson, M.5    Gustafsson, J.6
  • 140
    • 37549049748 scopus 로고    scopus 로고
    • Testis-expressed protein TSGA10 an auto-antigen in autoimmune polyendocrine syndrome type I
    • COI: 1:CAS:528:DC%2BD2sXhsVKitbzE, PID: 18000009
    • Reimand K, Perheentupa J, Link M, Krohn K, Peterson P, Uibo R. Testis-expressed protein TSGA10 an auto-antigen in autoimmune polyendocrine syndrome type I. Int Immunol. 2008;20:39–44.
    • (2008) Int Immunol , vol.20 , pp. 39-44
    • Reimand, K.1    Perheentupa, J.2    Link, M.3    Krohn, K.4    Peterson, P.5    Uibo, R.6
  • 141
    • 79953097064 scopus 로고    scopus 로고
    • Aire and T cell development
    • PID: 21163636
    • Anderson MS, Su MA. Aire and T cell development. Curr Opin Immunol. 2010;23:198–206.
    • (2010) Curr Opin Immunol , vol.23 , pp. 198-206
    • Anderson, M.S.1    Su, M.A.2
  • 142
    • 77957036387 scopus 로고    scopus 로고
    • T-cell regulation by casitas B-lineage lymphoma (Cblb) is a critical failsafe against autoimmune disease due to autoimmune regulator (Aire) deficiency
    • COI: 1:CAS:528:DC%2BC3cXhtVOgsbzP, PID: 20668237
    • Teh CE, Daley SR, Enders A, Goodnow CC. T-cell regulation by casitas B-lineage lymphoma (Cblb) is a critical failsafe against autoimmune disease due to autoimmune regulator (Aire) deficiency. Proc Natl Acad Sci U S A. 2010;107:14709–14.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 14709-14714
    • Teh, C.E.1    Daley, S.R.2    Enders, A.3    Goodnow, C.C.4
  • 143
    • 51349151253 scopus 로고    scopus 로고
    • Hypothetical review: thymic aberrations and type-I interferons; attempts to deduce autoimmunizing mechanisms from unexpected clues in monogenic and paraneoplastic syndromes
    • COI: 1:CAS:528:DC%2BD1cXht1Cmu7rE, PID: 18727623
    • Meager A, Peterson P, Willcox N. Hypothetical review: thymic aberrations and type-I interferons; attempts to deduce autoimmunizing mechanisms from unexpected clues in monogenic and paraneoplastic syndromes. Clin Exp Immunol. 2008;154:141–51.
    • (2008) Clin Exp Immunol , vol.154 , pp. 141-151
    • Meager, A.1    Peterson, P.2    Willcox, N.3
  • 144
    • 84855321087 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome
    • Kisand K, Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome. Ann N Y Acad Sci. 2012;1246:77–91.
    • (2012) Ann N Y Acad Sci , vol.1246 , pp. 77-91
    • Kisand, K.1    Peterson, P.2
  • 145
    • 84907481828 scopus 로고    scopus 로고
    • Clinical and serologic parallels to APS-I in patients with thymomas and autoantigen transcripts in their tumors
    • COI: 1:CAS:528:DC%2BC2cXhs1Oitb%2FN, PID: 25230752
    • Wolff AS, Karner J, Owe JF, Oftedal BE, Gilhus NE, Erichsen MM, et al. Clinical and serologic parallels to APS-I in patients with thymomas and autoantigen transcripts in their tumors. J Immunol. 2014;193:3880–90.
    • (2014) J Immunol , vol.193 , pp. 3880-3890
    • Wolff, A.S.1    Karner, J.2    Owe, J.F.3    Oftedal, B.E.4    Gilhus, N.E.5    Erichsen, M.M.6
  • 146
    • 33947694597 scopus 로고    scopus 로고
    • Deficiency of the autoimmune regulator AIRE in thymomas is insufficient to elicit autoimmune polyendocrinopathy syndrome type 1 (APS-1)
    • COI: 1:STN:280:DC%2BD2s7ntFOhsg%3D%3D, PID: 17334980
    • Strobel P, Murumagi A, Klein R, Luster M, Lahti M, Krohn K, et al. Deficiency of the autoimmune regulator AIRE in thymomas is insufficient to elicit autoimmune polyendocrinopathy syndrome type 1 (APS-1). J Pathol. 2007;211:563–71.
    • (2007) J Pathol , vol.211 , pp. 563-571
    • Strobel, P.1    Murumagi, A.2    Klein, R.3    Luster, M.4    Lahti, M.5    Krohn, K.6
  • 147
    • 80051950916 scopus 로고    scopus 로고
    • IL-7 Dysregulation and Loss of CD8+ T Cell Homeostasis in the Monogenic Human Disease Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
    • COI: 1:CAS:528:DC%2BC3MXpslOru7g%3D, PID: 21753149
    • Laakso SM, Kekalainen E, Rossi LH, Laurinolli TT, Mannerstrom H, Heikkila N, et al. IL-7 Dysregulation and Loss of CD8+ T Cell Homeostasis in the Monogenic Human Disease Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. J Immunol. 2011;187:2023–30.
    • (2011) J Immunol , vol.187 , pp. 2023-2030
    • Laakso, S.M.1    Kekalainen, E.2    Rossi, L.H.3    Laurinolli, T.T.4    Mannerstrom, H.5    Heikkila, N.6
  • 148
    • 77952285422 scopus 로고    scopus 로고
    • Flow cytometry study of blood cell subtypes reflects autoimmune and inflammatory processes in autoimmune polyendocrine syndrome type I
    • COI: 1:CAS:528:DC%2BC3cXnvVahtrg%3D, PID: 20500699
    • Wolff AS, Oftedal BE, Kisand K, Ersvaer E, Lima K, Husebye ES. Flow cytometry study of blood cell subtypes reflects autoimmune and inflammatory processes in autoimmune polyendocrine syndrome type I. Scand J Immunol. 2010;71:459–67.
    • (2010) Scand J Immunol , vol.71 , pp. 459-467
    • Wolff, A.S.1    Oftedal, B.E.2    Kisand, K.3    Ersvaer, E.4    Lima, K.5    Husebye, E.S.6
  • 149
    • 33846203837 scopus 로고    scopus 로고
    • A defect of regulatory T cells in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • PID: 17202386
    • Kekalainen E, Tuovinen H, Joensuu J, Gylling M, Franssila R, Pontynen N, et al. A defect of regulatory T cells in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Immunol. 2007;178:1208–15.
    • (2007) J Immunol , vol.178 , pp. 1208-1215
    • Kekalainen, E.1    Tuovinen, H.2    Joensuu, J.3    Gylling, M.4    Franssila, R.5    Pontynen, N.6
  • 150
    • 77958150859 scopus 로고    scopus 로고
    • Regulatory T cell defect in APECED patients is associated with loss of naive FOXP3(+) precursors and impaired activated population
    • COI: 1:CAS:528:DC%2BC3cXhtlCgtrjO, PID: 20805020
    • Laakso SM, Laurinolli TT, Rossi LH, Lehtoviita A, Sairanen H, Perheentupa J, et al. Regulatory T cell defect in APECED patients is associated with loss of naive FOXP3(+) precursors and impaired activated population. J Autoimmun. 2010;35:351–7.
    • (2010) J Autoimmun , vol.35 , pp. 351-357
    • Laakso, S.M.1    Laurinolli, T.T.2    Rossi, L.H.3    Lehtoviita, A.4    Sairanen, H.5    Perheentupa, J.6
  • 151
    • 27644454109 scopus 로고    scopus 로고
    • CD4+CD25+ T-regulatory cells are decreased in patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
    • COI: 1:CAS:528:DC%2BD2MXht1WjtbjL, PID: 16275391
    • Ryan KR, Lawson CA, Lorenzi AR, Arkwright PD, Isaacs JD, Lilic D. CD4+CD25+ T-regulatory cells are decreased in patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. J Allergy Clin Immunol. 2005;116:1158–9.
    • (2005) J Allergy Clin Immunol , vol.116 , pp. 1158-1159
    • Ryan, K.R.1    Lawson, C.A.2    Lorenzi, A.R.3    Arkwright, P.D.4    Isaacs, J.D.5    Lilic, D.6
  • 152
    • 67549118180 scopus 로고    scopus 로고
    • Aire
    • COI: 1:CAS:528:DC%2BD1MXlsFSltr8%3D, PID: 19302042
    • Mathis D, Benoist C. Aire. Annu Rev Immunol. 2009;27:287–312.
    • (2009) Annu Rev Immunol , vol.27 , pp. 287-312
    • Mathis, D.1    Benoist, C.2
  • 153
    • 0030841659 scopus 로고    scopus 로고
    • Severe malabsorption in autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy syndrome successfully treated with immunosuppression
    • COI: 1:STN:280:DyaK2szovVKhsg%3D%3D, PID: 9245854
    • 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;76:532–4.
    • (1997) Arch Dis Child , vol.76 , pp. 532-534
    • Padeh, S.1    Theodor, R.2    Jonas, A.3    Passwell, J.H.4
  • 154
    • 84873594438 scopus 로고    scopus 로고
    • A child with autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia treated with immunosuppression: a case report
    • PID: 23409957
    • O’Gorman CS, Shulman R, Lara-Corrales I, Pope E, Marcon M, Grasemann H, et al. A child with autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia treated with immunosuppression: a case report. J Med Case Rep. 2013;7:44.
    • (2013) J Med Case Rep , vol.7 , pp. 44
    • O’Gorman, C.S.1    Shulman, R.2    Lara-Corrales, I.3    Pope, E.4    Marcon, M.5    Grasemann, H.6
  • 156
    • 34250799093 scopus 로고    scopus 로고
    • Pure red cell aplasia associated with type I autoimmune polyglandular syndrome-successful response to treatment with mycophenolate mofetil: case report and review of literature
    • COI: 1:CAS:528:DC%2BD2sXot1Cqt70%3D, PID: 17220208
    • Bakrac M, Jurisic V, Kostic T, Popovic V, Pekic S, Kraguljac N, et al. Pure red cell aplasia associated with type I autoimmune polyglandular syndrome-successful response to treatment with mycophenolate mofetil: case report and review of literature. J Clin Pathol. 2007;60:717–20.
    • (2007) J Clin Pathol , vol.60 , pp. 717-720
    • Bakrac, M.1    Jurisic, V.2    Kostic, T.3    Popovic, V.4    Pekic, S.5    Kraguljac, N.6
  • 157
    • 0033772333 scopus 로고    scopus 로고
    • Organ-specific and non-organ-specific autoantibodies in children and young adults with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
    • COI: 1:CAS:528:DC%2BD3cXnsVeiuro%3D, PID: 11022196
    • 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
  • 158
    • 1842579510 scopus 로고    scopus 로고
    • Autoantibodies to human tryptophan hydroxylase and aromatic L-amino acid decarboxylase
    • COI: 1:CAS:528:DC%2BD2cXivFCktrY%3D, PID: 15012616
    • Dal Pra C, Chen S, Betterle C, Zanchetta R, McGrath V, Furmaniak J, et al. Autoantibodies to human tryptophan hydroxylase and aromatic L-amino acid decarboxylase. Eur J Endocrinol. 2004;150(3):313–21.
    • (2004) Eur J Endocrinol , vol.150 , Issue.3 , pp. 313-321
    • Dal Pra, C.1    Chen, S.2    Betterle, C.3    Zanchetta, R.4    McGrath, V.5    Furmaniak, J.6


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