메뉴 건너뛰기




Volumn 9, Issue 1, 2013, Pages 43-51

Alterations of the autoimmune regulator transcription factor and failure of central tolerance: APECED as a model

Author keywords

AIRE; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; autoimmunity; central tolerance; phenotypic variability; susceptibility genes

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; T LYMPHOCYTE RECEPTOR;

EID: 84871539572     PISSN: 1744666X     EISSN: 17448409     Source Type: Journal    
DOI: 10.1586/eci.12.88     Document Type: Review
Times cited : (10)

References (79)
  • 1
    • 84856668499 scopus 로고    scopus 로고
    • Immunodeficiency and autoimmunity: Lessons from systemic lupus erythematosus
    • Grammatikos AP, Tsokos GC. Immunodeficiency and autoimmunity: Lessons from systemic lupus erythematosus. Trends Mol. Med. 18(2), 101-108 (2012).
    • (2012) Trends Mol. Med , vol.18 , Issue.2 , pp. 101-108
    • Grammatikos, A.P.1    Tsokos, G.C.2
  • 2
    • 67349248095 scopus 로고    scopus 로고
    • X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity
    • Pessach IM, Notarangelo LD. X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity. J. Autoimmun. 33(1), 17-24 (2009).
    • (2009) J. Autoimmun , vol.33 , Issue.1 , pp. 17-24
    • Pessach, I.M.1    Notarangelo, L.D.2
  • 3
    • 0033921089 scopus 로고    scopus 로고
    • Clustering of distinct autoimmune diseases associated with functional abnormalities of T cell survival in children
    • Pignata C, Alessio M, Ramenghi U et al. Clustering of distinct autoimmune diseases associated with functional abnormalities of T cell survival in children. Clin. Exp. Immunol. 121(1), 53-58 (2000).
    • (2000) Clin. Exp. Immunol , vol.121 , Issue.1 , pp. 53-58
    • Pignata, C.1    Alessio, M.2    Ramenghi, U.3
  • 5
    • 2542477129 scopus 로고    scopus 로고
    • • Describes the role of the thymus in T-cell development and in the induction of tolerance. 5 Cheroutre H. Starting at the beginning: new perspectives on the biology of mucosal T-cells
    • • Describes the role of the thymus in T-cell development and in the induction of tolerance. 5 Cheroutre H. Starting at the beginning: new perspectives on the biology of mucosal T-cells. Annu. Rev. Immunol. 22, 217-246
    • Annu. Rev. Immunol , vol.22 , pp. 217-246
  • 6
    • 0037103223 scopus 로고    scopus 로고
    • Thymocyte apoptosis induced by T cell activation is mediated by glucocorticoids in vivo
    • Brewer JA, Kanagawa O, Sleckman BP, Muglia LJ. Thymocyte apoptosis induced by T cell activation is mediated by glucocorticoids in vivo. J. Immunol. 169(4), 1837-1843 (2002).
    • (2002) J. Immunol , vol.169 , Issue.4 , pp. 1837-1843
    • Brewer, J.A.1    Kanagawa, O.2    Sleckman, B.P.3    Muglia, L.J.4
  • 7
    • 0038725685 scopus 로고    scopus 로고
    • Negative selection - clearing out the bad apples from the T-cell repertoire
    • Palmer E. Negative selection - clearing out the bad apples from the T-cell repertoire. Nat. Rev. Immunol. 3(5), 383-391 (2003).
    • (2003) Nat. Rev. Immunol , vol.3 , Issue.5 , pp. 383-391
    • Palmer, E.1
  • 8
    • 33646165128 scopus 로고    scopus 로고
    • A central role for central tolerance
    • Kyewski B, Klein L. A central role for central tolerance. Annu. Rev. Immunol. 24, 571-606 (2006).
    • (2006) Annu. Rev. Immunol , vol.24 , pp. 571-606
    • Kyewski, B.1    Klein, L.2
  • 9
    • 22344449972 scopus 로고    scopus 로고
    • Promiscuous gene expression in thymic epithelial cells is regulated at multiple levels
    • Derbinski J, Gäbler J, Brors B et al. Promiscuous gene expression in thymic epithelial cells is regulated at multiple levels. J. Exp. Med. 202(1), 33-45 (2005).
    • (2005) J. Exp. Med , vol.202 , Issue.1 , pp. 33-45
    • Derbinski, J.1    Gäbler, J.2    Brors, B.3
  • 10
    • 0037112047 scopus 로고    scopus 로고
    • Projection of an immunological self shadow within the thymus by the aire protein
    • Anderson MS, Venanzi ES, Klein L et al. Projection of an immunological self shadow within the thymus by the aire protein. Science 298(5597), 1395-1401 (2002).
    • (2002) Science , vol.298 , Issue.5597 , pp. 1395-1401
    • Anderson, M.S.1    Venanzi, E.S.2    Klein, L.3
  • 11
    • 38649131259 scopus 로고    scopus 로고
    • Promiscuous gene expression patterns in single medullary thymic epithelial cells argue for a stochastic mechanism
    • Derbinski J, Pinto S, Rösch S, Hexel K, Kyewski B. Promiscuous gene expression patterns in single medullary thymic epithelial cells argue for a stochastic mechanism. Proc. Natl Acad. Sci. USA 105(2), 657-662 (2008).
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , Issue.2 , pp. 657-662
    • Derbinski, J.1    Pinto, S.2    Rösch, S.3    Hexel, K.4    Kyewski, B.5
  • 12
    • 33646477813 scopus 로고    scopus 로고
    • Features of medullary thymic epithelium implicate postnatal development in maintaining epithelial heterogeneity and tissuerestricted antigen expression
    • Gillard GO, Farr AG. Features of medullary thymic epithelium implicate postnatal development in maintaining epithelial heterogeneity and tissuerestricted antigen expression. J. Immunol. 176(10), 5815-5824 (2006).
    • (2006) J. Immunol , vol.176 , Issue.10 , pp. 5815-5824
    • Gillard, G.O.1    Farr, A.G.2
  • 13
    • 73149112590 scopus 로고    scopus 로고
    • Aire, master of many trades
    • Kyewski B, Peterson P. Aire, master of many trades. Cell 140(1), 24-26 (2010).
    • (2010) Cell , vol.140 , Issue.1 , pp. 24-26
    • Kyewski, B.1    Peterson, P.2
  • 15
    • 49449093723 scopus 로고    scopus 로고
    • Deletional tolerance mediated by extrathymic Aire-expressing cells
    • Gardner JM, Devoss JJ, Friedman RS et al. Deletional tolerance mediated by extrathymic Aire-expressing cells. Science 321(5890), 843-847 (2008).
    • (2008) Science , vol.321 , Issue.5890 , pp. 843-847
    • Gardner, J.M.1    Devoss, J.J.2    Friedman, R.S.3
  • 16
    • 0030849637 scopus 로고    scopus 로고
    • Targeted complementation of MHC class II deficiency by intrathymic delivery of recombinant adenoviruses
    • Rooke R, Waltzinger C, Benoist C, Mathis D. Targeted complementation of MHC class II deficiency by intrathymic delivery of recombinant adenoviruses. Immunity 7(1), 123-134 (1997).
    • (1997) Immunity , vol.7 , Issue.1 , pp. 123-134
    • Rooke, R.1    Waltzinger, C.2    Benoist, C.3    Mathis, D.4
  • 17
    • 67651177609 scopus 로고    scopus 로고
    • Dead man walking: How thymocytes scan the medulla
    • Klein L. Dead man walking: How thymocytes scan the medulla. Nat. Immunol. 10(8), 809-811 (2009).
    • (2009) Nat. Immunol , vol.10 , Issue.8 , pp. 809-811
    • Klein, L.1
  • 18
    • 67650507153 scopus 로고    scopus 로고
    • The thymic medulla: A unique microenvironment for intercellular self-antigen transfer
    • Koble C, Kyewski B. The thymic medulla: A unique microenvironment for intercellular self-antigen transfer. J. Exp. Med. 206(7), 1505-1513 (2009).
    • (2009) J. Exp. Med , vol.206 , Issue.7 , pp. 1505-1513
    • Koble, C.1    Kyewski, B.2
  • 19
    • 16844363097 scopus 로고    scopus 로고
    • A well adapted regulatory contrivance: Regulatory T cell development and the forkhead family transcription factor Foxp3
    • Fontenot JD, Rudensky AY. A well adapted regulatory contrivance: Regulatory T cell development and the forkhead family transcription factor Foxp3. Nat. Immunol. 6(4), 331-337 (2005).
    • (2005) Nat. Immunol , vol.6 , Issue.4 , pp. 331-337
    • Fontenot, J.D.1    Rudensky, A.Y.2
  • 20
    • 33744786828 scopus 로고    scopus 로고
    • Foxp3+ CD25+ regulatory T-cells specific for a neo-self-antigen develop at the double-positive thymic stage
    • Cabarrocas J, Cassan C, Magnusson F et al. Foxp3+ CD25+ regulatory T-cells specific for a neo-self-antigen develop at the double-positive thymic stage. Proc. Natl Acad. Sci. USA 103(22), 8453-8458
    • Proc. Natl Acad. Sci. USA , vol.103 , Issue.22 , pp. 8453-8458
    • Cabarrocas, J.1    Cassan, C.2    Magnusson, F.3
  • 21
    • 0035123704 scopus 로고    scopus 로고
    • Defective function of Fas in patients with type 1 diabetes associated with other autoimmune diseases
    • DeFranco S, Bonissoni S, Cerutti F et al. Defective function of Fas in patients with type 1 diabetes associated with other autoimmune diseases. Diabetes 50(3), 483-488 (2001).
    • (2001) Diabetes , vol.50 , Issue.3 , pp. 483-488
    • DeFranco, S.1    Bonissoni, S.2    Cerutti, F.3
  • 22
    • 0028877057 scopus 로고
    • An essential role for gp39, the ligand for CD40, in thymic selection
    • Foy TM, Page DM, Waldschmidt TJ et al. An essential role for gp39, the ligand for CD40, in thymic selection. J. Exp. Med. 182(5), 1377-1388 (1995).
    • (1995) J. Exp. Med , vol.182 , Issue.5 , pp. 1377-1388
    • Foy, T.M.1    Page, D.M.2    Waldschmidt, T.J.3
  • 23
    • 0033526862 scopus 로고    scopus 로고
    • Several different cell surface molecules control negative selection of medullary thymocytes
    • Kishimoto H, Sprent J. Several different cell surface molecules control negative selection of medullary thymocytes. J. Exp. Med. 190(1), 65-73 (1999).
    • (1999) J. Exp. Med , vol.190 , Issue.1 , pp. 65-73
    • Kishimoto, H.1    Sprent, J.2
  • 24
    • 0032482160 scopus 로고    scopus 로고
    • A role for Fas in negative selection of thymocytes in vivo
    • Kishimoto H, Surh CD, Sprent J. A role for Fas in negative selection of thymocytes in vivo. J. Exp. Med. 187(9), 1427-1438 (1998).
    • (1998) J. Exp. Med , vol.187 , Issue.9 , pp. 1427-1438
    • Kishimoto, H.1    Surh, C.D.2    Sprent, J.3
  • 25
    • 16944367194 scopus 로고    scopus 로고
    • Positional cloning of the APECED gene
    • Nagamine K, Peterson P, Scott HS et al. Positional cloning of the APECED gene. Nat. Genet. 17(4), 393-398 (1997).
    • (1997) Nat. Genet , vol.17 , Issue.4 , pp. 393-398
    • Nagamine, K.1    Peterson, P.2    Scott, H.S.3
  • 26
    • 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. 17(4), 399-403 (1997).
    • (1997) Nat Genet , vol.17 , Issue.4 , pp. 399-403
    • Consortium, F.-G.A.1
  • 27
    • 0030931352 scopus 로고    scopus 로고
    • High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy locus on chromosome 21q22.3 by FISH
    • Aaltonen J, Horelli-Kuitunen N, Fan JB et al. High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy locus on chromosome 21q22.3 by FISH. Genome Res. 7(8), 820-829 (1997).
    • (1997) Genome Res , vol.7 , Issue.8 , pp. 820-829
    • Aaltonen, J.1    Horelli-Kuitunen, N.2    Fan, J.B.3
  • 28
    • 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
    • Björses P, Halonen M, Palvimo JJ 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. 66(2), 378-392 (2000).
    • (2000) Am. J. Hum. Genet , vol.66 , Issue.2 , pp. 378-392
    • Björses, P.1    Halonen, M.2    Palvimo, J.J.3
  • 29
    • 38349110211 scopus 로고    scopus 로고
    • AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity
    • Ferguson BJ, Alexander C, Rossi SW et al. AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity. J. Biol. Chem. 283(3), 1723-1731 (2008).
    • (2008) J. Biol. Chem , vol.283 , Issue.3 , pp. 1723-1731
    • Ferguson, B.J.1    Alexander, C.2    Rossi, S.W.3
  • 30
    • 0037115481 scopus 로고    scopus 로고
    • Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting
    • Ramsey C, Bukrinsky A, Peltonen L. Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting. Hum. Mol. Genet. 11(26), 3299-3308 (2002).
    • (2002) Hum. Mol. Genet , vol.11 , Issue.26 , pp. 3299-3308
    • Ramsey, C.1    Bukrinsky, A.2    Peltonen, L.3
  • 31
    • 0032127876 scopus 로고    scopus 로고
    • The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor
    • Gibson TJ, Ramu C, Gemünd C, Aasland R. The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor. Trends Biochem. Sci. 23(7), 242-244 (1998).
    • (1998) Trends Biochem. Sci , vol.23 , Issue.7 , pp. 242-244
    • Gibson, T.J.1    Ramu, C.2    Gemünd, C.3    Aasland, R.4
  • 32
    • 25444446105 scopus 로고    scopus 로고
    • Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation
    • Ilmarinen T, Eskelin P, Halonen M et al. Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation. Hum. Mutat. 26(4), 322-331 (2005).
    • (2005) Hum. Mutat , vol.26 , Issue.4 , pp. 322-331
    • Ilmarinen, T.1    Eskelin, P.2    Halonen, M.3
  • 33
    • 15744397285 scopus 로고    scopus 로고
    • NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1) Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease
    • Bottomley MJ, Stier G, Pennacchini D et al. NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease. J. Biol. Chem. 280(12), 11505-11512
    • J. Biol. Chem , vol.280 , Issue.12 , pp. 11505-11512
    • Bottomley, M.J.1    Stier, G.2    Pennacchini, D.3
  • 34
    • 34848917517 scopus 로고    scopus 로고
    • Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity
    • Meloni A, Incani F, Corda D, Cao A, Rosatelli MC. Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity. Mol. Immunol. 45(3), 805-809 (2008).
    • (2008) Mol. Immunol , vol.45 , Issue.3 , pp. 805-809
    • Meloni, A.1    Incani, F.2    Corda, D.3    Cao, A.4    Rosatelli, M.C.5
  • 35
    • 1942502336 scopus 로고    scopus 로고
    • The coactivator LXXLL nuclear receptor recognition motif
    • Savkur RS, Burris TP. The coactivator LXXLL nuclear receptor recognition motif. J. Pept. Res. 63(3), 207-212 (2004).
    • (2004) J. Pept. Res , vol.63 , Issue.3 , pp. 207-212
    • Savkur, R.S.1    Burris, T.P.2
  • 36
    • 0033082263 scopus 로고    scopus 로고
    • Cloning of Aire, the mouse homologue of the autoimmune regulator (AIRE gene responsible for autoimmune polyglandular syndrome type 1 (ASP1
    • Wang CY, Shi JD, Davoodi-Semiromi A, She JX. Cloning of Aire, the mouse homologue of the autoimmune regulator (AIRE) gene responsible for autoimmune polyglandular syndrome type 1 (ASP1). Genomics 55(3), 322-326 (1999).
    • (1999) Genomics , vol.55 , Issue.3 , pp. 322-326
    • Wang, C.Y.1    Shi, J.D.2    Davoodi-Semiromi, A.3    She, J.X.4
  • 37
    • 13544262691 scopus 로고    scopus 로고
    • Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Aire-deficient mice
    • Kuroda N, Mitani T, Takeda N et al. Development of autoimmunity against transcriptionally unrepressed target antigen in the thymus of Aire-deficient mice. J. Immunol. 174(4), 1862-1870 (2005).
    • (2005) J. Immunol , vol.174 , Issue.4 , pp. 1862-1870
    • Kuroda, N.1    Mitani, T.2    Takeda, N.3
  • 38
    • 65449133931 scopus 로고    scopus 로고
    • Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype
    • Hubert FX, Kinkel SA, Crewther PE et al. Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype. J. Immunol. 182(6), 3902-3918 (2009).
    • (2009) J. Immunol , vol.182 , Issue.6 , pp. 3902-3918
    • Hubert, F.X.1    Kinkel, S.A.2    Crewther, P.E.3
  • 40
    • 73149115486 scopus 로고    scopus 로고
    • Aire's partners in the molecular control of immunological tolerance
    • Abramson J, Giraud M, Benoist C, Mathis D. Aire's partners in the molecular control of immunological tolerance. Cell 140(1), 123-135 (2010).
    • (2010) Cell 140 , vol.1 , pp. 123-135
    • Abramson, J.1    Giraud, M.2    Benoist, C.3    Mathis, D.4
  • 41
    • 0035374352 scopus 로고    scopus 로고
    • Subcellular localization of the autoimmune regulator protein characterization of nuclear targeting and transcriptional activation domain
    • Pitkänen J, Vähämurto P, Krohn K, Peterson P. Subcellular localization of the autoimmune regulator protein. characterization of nuclear targeting and transcriptional activation domain. J. Biol. Chem. 276(22), 19597-19602 (2001).
    • (2001) J. Biol. Chem , vol.276 , Issue.22 , pp. 19597-19602
    • Pitkänen, J.1    Vähämurto, P.2    Krohn, K.3    Peterson, P.4
  • 42
    • 4143098311 scopus 로고    scopus 로고
    • CBP and p300: HATs for different occasions
    • Kalkhoven E. CBP and p300: HATs for different occasions. Biochem. Pharmacol. 68(6), 1145-1155 (2004).
    • (2004) Biochem. Pharmacol , vol.68 , Issue.6 , pp. 1145-1155
    • Kalkhoven, E.1
  • 43
    • 56749161528 scopus 로고    scopus 로고
    • Transcriptional regulation by AIRE: Nolecular mechanisms of central tolerance
    • Peterson P, Org T, Rebane A. Transcriptional regulation by AIRE: Nolecular mechanisms of central tolerance. Nat. Rev. Immunol. 8(12), 948-957
    • Nat. Rev. Immunol , vol.8 , Issue.12 , pp. 948-957
    • Peterson, P.1    Org, T.2    Rebane, A.3
  • 44
    • 38049026826 scopus 로고    scopus 로고
    • DNA-PK contributes to the phosphorylation of AIRE: Importance in transcriptional activity
    • Liiv I, Rebane A, Org T et al. DNA-PK contributes to the phosphorylation of AIRE: Importance in transcriptional activity. Biochim. Biophys. Acta 1783(1), 74-83 (2008).
    • (2008) Biochim. Biophys. Acta , vol.1783 , Issue.1 , pp. 74-83
    • Liiv, I.1    Rebane, A.2    Org, T.3
  • 45
    • 39149143991 scopus 로고    scopus 로고
    • Functional interaction of AIRE with PIAS1 in transcriptional regulation
    • Ilmarinen T, Kangas H, Kytömaa T et al Functional interaction of AIRE with PIAS1 in transcriptional regulation. Mol. Immunol. 45(7), 1847-1862 (2008).
    • (2008) Mol. Immunol , vol.45 , Issue.7 , pp. 1847-1862
    • Ilmarinen, T.1    Kangas, H.2    Kytömaa, T.3
  • 46
    • 84856116603 scopus 로고    scopus 로고
    • Severe combined immunodeficiencies: New and old scenarios
    • Aloj G, Giardino G, Valentino L et al. Severe combined immunodeficiencies: new and old scenarios. Int. Rev. Immunol. 31(1), 43-65 (2012).
    • (2012) Int. Rev. Immunol , vol.31 , Issue.1 , pp. 43-65
    • Aloj, G.1    Giardino, G.2    Valentino, L.3
  • 47
    • 37549060329 scopus 로고    scopus 로고
    • AIRE recruits P-TEFb for transcriptional elongation of target genes in medullary thymic epithelial cells
    • Oven I, Brdicková N, Kohoutek J, Vaupotic T, Narat M, Peterlin BM. AIRE recruits P-TEFb for transcriptional elongation of target genes in medullary thymic epithelial cells. Mol. Cell. Biol. 27(24), 8815-8823 (2007).
    • (2007) Mol. Cell. Biol , vol.27 , Issue.24 , pp. 8815-8823
    • Oven, I.1    Brdicková, N.2    Kohoutek, J.3    Vaupotic, T.4    Narat, M.5    Peterlin, B.M.6
  • 48
    • 56749174388 scopus 로고    scopus 로고
    • Aire employs a histone-binding module to mediate immunological tolerance, linking chromatin regulation with organ-specific autoimmunity
    • Koh AS, Kuo AJ, Park SY et al. Aire employs a histone-binding module to mediate immunological tolerance, linking chromatin regulation with organ-specific autoimmunity. Proc. Natl. Acad. Sci. USA 105(41), 15878-15883 (2008).
    • (2008) Proc. Natl. Acad. Sci. USA , vol.105 , Issue.41 , pp. 15878-15883
    • Koh, A.S.1    Kuo, A.J.2    Park, S.Y.3
  • 49
    • 78650376503 scopus 로고    scopus 로고
    • Contrasting models for the roles of Aire in the differentiation program of epithelial cells in the thymic medulla
    • Matsumoto M. Contrasting models for the roles of Aire in the differentiation program of epithelial cells in the thymic medulla. Eur. J. Immunol. 41(1), 12-17 (2011).
    • (2011) Eur. J. Immunol , vol.41 , Issue.1 , pp. 12-17
    • Matsumoto, M.1
  • 50
    • 58149316251 scopus 로고    scopus 로고
    • Aire controls the differentiation program of thymic epithelial cells in the medulla for the establishment of self-tolerance
    • Yano M, Kuroda N, Han H et al. Aire controls the differentiation program of thymic epithelial cells in the medulla for the establishment of self-tolerance. J. Exp. Med. 205(12), 2827-2838 (2008).
    • (2008) J. Exp. Med , vol.205 , Issue.12 , pp. 2827-2838
    • Yano, M.1    Kuroda, N.2    Han, H.3
  • 51
    • 77749279470 scopus 로고    scopus 로고
    • Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells
    • Poliani PL, Kisand K, Marrella V et al. Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells. Am. J. Pathol. 176(3), 1104-1112 (2010).
    • (2010) Am. J. Pathol , vol.176 , Issue.3 , pp. 1104-1112
    • Poliani, P.L.1    Kisand, K.2    Marrella, V.3
  • 52
    • 20044376279 scopus 로고    scopus 로고
    • AIRE deficiency in thymus of 2 patients with Omenn syndrome
    • Cavadini P, Vermi W, Facchetti F et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J. Clin. Invest. 115(3), 728-732 (2005).
    • (2005) J. Clin. Invest , vol.115 , Issue.3 , pp. 728-732
    • Cavadini, P.1    Vermi, W.2    Facchetti, F.3
  • 53
    • 33646062006 scopus 로고    scopus 로고
    • International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest 2005
    • Notarangelo L, Casanova JL, Conley ME et al.; International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005 J. Allergy Clin. Immunol. 117(4), 883-896 (2006).
    • (2006) J. Allergy Clin. Immunol , vol.117 , Issue.4 , pp. 883-896
    • Notarangelo, L.1    Casanova, J.L.2    Conley, M.E.3
  • 54
    • 33747662305 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy
    • Perheentupa J. Autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy. J. Clin. Endocrinol. Metab. 91(8), 2843-2850 (2006).
    • (2006) J. Clin. Endocrinol. Metab , vol.91 , Issue.8 , pp. 2843-2850
    • Perheentupa, J.1
  • 55
    • 0026481974 scopus 로고
    • Polyglandular autoimmune syndrome type I among Iranian Jews
    • Zlotogora J, Shapiro MS. Polyglandular autoimmune syndrome type I among Iranian Jews. J. Med. Genet. 29(11), 824-826 (1992).
    • (1992) J. Med. Genet , vol.29 , Issue.11 , pp. 824-826
    • Zlotogora, J.1    Shapiro, M.S.2
  • 56
    • 0028064998 scopus 로고
    • An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21
    • Aaltonen J, Björses P, Sandkuijl L, Perheentupa J, Peltonen L. An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21. Nat. Genet. 8(1), 83-87 (1994).
    • (1994) Nat. Genet , vol.8 , Issue.1 , pp. 83-87
    • Aaltonen, J.1    Björses, P.2    Sandkuijl, L.3    Perheentupa, J.4    Peltonen, L.5
  • 57
    • 0031753977 scopus 로고    scopus 로고
    • A common mutation in Sardinian autoimmune polyendocrinopathy- candidiasisectodermal dystrophy patients
    • Rosatelli MC, Meloni A, Meloni A et al. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasisectodermal dystrophy patients. Hum. Genet. 103(4), 428-434 (1998).
    • (1998) Hum. Genet , vol.103 , Issue.4 , pp. 428-434
    • Rosatelli, M.C.1    Meloni, A.2    Meloni, A.3
  • 58
    • 33846990524 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndrome type 1 in Norway: Phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene
    • Wolff AS, Erichsen MM, Meager A et al. Autoimmune polyendocrine syndrome type 1 in Norway: Phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J. Clin. Endocrinol. Metab. 92(2), 595-603 (2007).
    • (2007) J. Clin. Endocrinol. Metab , vol.92 , Issue.2 , pp. 595-603
    • Wolff, A.S.1    Erichsen, M.M.2    Meager, A.3
  • 59
    • 84862876939 scopus 로고    scopus 로고
    • Molecular background and genotype- phenotype correlation in autoimmune- polyendocrinopathy-candidiasis- ectodermal-distrophy patients from Campania and in their relatives
    • Capalbo D, Mazza C, Giordano R et al. Molecular background and genotype- phenotype correlation in autoimmune- polyendocrinopathy-candidiasis- ectodermal-distrophy patients from Campania and in their relatives. J. Endocrinol. Invest. 35(2), 169-173 (2012).
    • (2012) J. Endocrinol. Invest , vol.35 , Issue.2 , pp. 169-173
    • Capalbo, D.1    Mazza, C.2    Giordano, R.3
  • 61
    • 0036171124 scopus 로고    scopus 로고
    • Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy patients from Southern Italy
    • Meloni A, Perniola R, Faà V, Corvaglia E, Cao A, Rosatelli MC. Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy patients from Southern Italy. J. Clin. Endocrinol. Metab. 87(2), 841-846 (2002).
    • (2002) J. Clin. Endocrinol. Metab , vol.87 , Issue.2 , pp. 841-846
    • Meloni, A.1    Perniola, R.2    Faà, V.3    Corvaglia, E.4    Cao, A.5    Rosatelli, M.C.6
  • 62
    • 60349085274 scopus 로고    scopus 로고
    • Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy- candidiasis- ectodermaldystrophy (APECED) and in their relatives
    • Cervato S, Mariniello B, Lazzarotto F et al. Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy- candidiasis-ectodermaldystrophy (APECED) and in their relatives. Clin. Endocrinol. 70(3), 421-428 (2009).
    • (2009) Clin. Endocrinol , vol.70 , Issue.3 , pp. 421-428
    • Cervato, S.1    Mariniello, B.2    Lazzarotto, F.3
  • 63
    • 84860259364 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis- ectodermal-dystrophy (APECED) in Sicily: Confirmation that R203X is the peculiar AIRE gene mutation
    • Giordano C, Modica R, Allotta ML et al. Autoimmune polyendocrinopathy- candidiasis- ectodermal-dystrophy (APECED) in Sicily: Confirmation that R203X is the peculiar AIRE gene mutation. J. Endocrinol. Invest. 35(4), 384-388 (2012).
    • (2012) J. Endocrinol. Invest , vol.35 , Issue.4 , pp. 384-388
    • Giordano, C.1    Modica, R.2    Allotta, M.L.3
  • 64
    • 64549115221 scopus 로고    scopus 로고
    • Clinical review 93: Autoimmune polyglandular syndrome type 1
    • Betterle C, Greggio NA, Volpato M. Clinical review 93: Autoimmune polyglandular syndrome type 1. J. Clin. Endocrinol. Metab. 83(4), 1049-1055 (1998).
    • (1998) J. Clin. Endocrinol. Metab , vol.83 , Issue.4 , pp. 1049-1055
    • Betterle, C.1    Greggio, N.A.2    Volpato, M.3
  • 65
    • 0025295238 scopus 로고
    • Clinical variation of autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED) in a series of 68 patients
    • Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED) in a series of 68 patients. N. Engl. J. Med. 322(26), 1829-1836 (1990).
    • (1990) N. Engl. J. Med , vol.322 , Issue.26 , pp. 1829-1836
    • Ahonen, P.1    Myllärniemi, S.2    Sipilä, I.3    Perheentupa, J.4
  • 66
    • 33746423947 scopus 로고    scopus 로고
    • Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1
    • Meager A, Visvalingam K, Peterson P et al. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Med. 3(7), e289 (2006).
    • (2006) PLoS Med , vol.3 , Issue.7
    • Meager, A.1    Visvalingam, K.2    Peterson, P.3
  • 67
    • 40449109084 scopus 로고    scopus 로고
    • Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
    • Alimohammadi M, Björklund P, Hallgren A et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N. Engl. J. Med. 358(10), 1018-1028 (2008).
    • (2008) N. Engl. J. Med , vol.358 , Issue.10 , pp. 1018-1028
    • Alimohammadi, M.1    Björklund, P.2    Hallgren, A.3
  • 68
    • 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, Mantero F, Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: Autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr. Rev. 23(3), 327-364 (2002).
    • (2002) Endocr. Rev , vol.23 , Issue.3 , pp. 327-364
    • Betterle, C.1    Dal Pra, C.2    Mantero, F.3    Zanchetta, R.4
  • 69
    • 77950253546 scopus 로고    scopus 로고
    • Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy
    • Tóth B, Wolff AS, Halász Z et al. Novel sequence variation of AIRE and detection of interferon-omega antibodies in early infancy. Clin. Endocrinol. 72(5), 641-647
    • Clin. Endocrinol , vol.72 , Issue.5 , pp. 641-647
    • Tóth, B.1    Wolff, A.S.2    Halász, Z.3
  • 70
    • 77149147477 scopus 로고    scopus 로고
    • Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17- associated cytokines
    • Kisand K, Bøe Wolff AS, Podkrajsek KT et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17- associated cytokines. J. Exp. Med. 207(2), 299-308 (2010).
    • (2010) J. Exp. Med , vol.207 , Issue.2 , pp. 299-308
    • Kisand, K.1    Bøe Wolff, A.S.2    Podkrajsek, K.T.3
  • 71
    • 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
    • Puel A, Döffinger R, Natividad A 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. 207(2), 291-297 (2010).
    • (2010) J. Exp. Med , vol.207 , Issue.2 , pp. 291-297
    • Puel, A.1    Döffinger, R.2    Natividad, A.3
  • 72
    • 33947694597 scopus 로고    scopus 로고
    • Deficiency of the autoimmune regulator AIRE in thymomas is insufficient to elicit autoimmune polyendocrinopathy syndrome type 1 (APS-1)
    • Ströbel P, Murumägi A, Klein R et al. Deficiency of the autoimmune regulator AIRE in thymomas is insufficient to elicit autoimmune polyendocrinopathy syndrome type 1 (APS-1). J. Pathol. 211(5), 563-571 (2007).
    • (2007) J. Pathol , vol.211 , Issue.5 , pp. 563-571
    • Ströbel, P.1    Murumägi, A.2    Klein, R.3
  • 73
    • 79957573654 scopus 로고    scopus 로고
    • Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: Clinical and pathogenetic implications
    • 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. 41(6), 1517-1527 (2011).
    • (2011) Eur. J. Immunol , vol.41 , Issue.6 , pp. 1517-1527
    • Kisand, K.1    Lilic, D.2    Casanova, J.L.3    Peterson, P.4    Meager, A.5    Willcox, N.6
  • 74
    • 77951666700 scopus 로고    scopus 로고
    • Autoimmune polyglandular syndromes
    • Michels AW, Gottlieb PA. Autoimmune polyglandular syndromes. Nat. Rev. Endocrinol. 6(5), 270-277 (2010).
    • (2010) Nat. Rev. Endocrinol , vol.6 , Issue.5 , pp. 270-277
    • Michels, A.W.1    Gottlieb, P.A.2
  • 75
    • 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, Myhre AG 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), 2568-2574 (2002).
    • (2002) J. Clin. Endocrinol. Metab , vol.87 , Issue.6 , pp. 2568-2574
    • Halonen, M.1    Eskelin, P.2    Myhre, A.G.3
  • 76
    • 33846203837 scopus 로고    scopus 로고
    • A defect of regulatory T-cells in patients with autoimmune polyendocrinopathycandidiasis- ectodermal dystrophy
    • Kekäläinen E, Tuovinen H, Joensuu J et al. A defect of regulatory T-cells in patients with autoimmune polyendocrinopathycandidiasis- ectodermal dystrophy. J. Immunol. 178(2), 1208-1215 (2007).
    • (2007) J. Immunol , vol.178 , Issue.2 , pp. 1208-1215
    • Kekäläinen, E.1    Tuovinen, H.2    Joensuu, J.3
  • 77
    • 80051950916 scopus 로고    scopus 로고
    • IL-7 dysregulation and loss of CD8+ T cell homeostasis in the monogenic human disease autoimmune polyendocrinopathycandidiasis- ectodermal dystrophy
    • Laakso SM, Kekäläinen E, Rossi LH et al. IL-7 dysregulation and loss of CD8+ T cell homeostasis in the monogenic human disease autoimmune polyendocrinopathycandidiasis- ectodermal dystrophy. J. Immunol. 187(4), 2023-2030 (2011).
    • (2011) J. Immunol , vol.187 , Issue.4 , pp. 2023-2030
    • Laakso, S.M.1    Kekäläinen, E.2    Rossi, L.H.3
  • 78
    • 49649114637 scopus 로고    scopus 로고
    • Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE
    • Capalbo D, Elefante A, Spagnuolo MI et al. Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE. Clin. Endocrinol. (Oxf) 69(3), 511-513 (2008).
    • (2008) Clin. Endocrinol. (Oxf , vol.69 , Issue.3 , pp. 511-513
    • Capalbo, D.1    Elefante, A.2    Spagnuolo, M.I.3
  • 79
    • 0031941367 scopus 로고    scopus 로고
    • Apoptosis as a mechanism of peripheral blood mononuclear cell death after measles and varicella-zoster virus infections in children
    • Pignata C, Fiore M, de Filippo S, Cavalcanti M, Gaetaniello L, Scotese I. Apoptosis as a mechanism of peripheral blood mononuclear cell death after measles and varicella-zoster virus infections in children. Pediatr. Res. 43(1), 77-83 (1998).
    • (1998) Pediatr. Res , vol.43 , Issue.1 , pp. 77-83
    • Pignata, C.1    Fiore, M.2    De Filippo, S.3    Cavalcanti, M.4    Gaetaniello, L.5    Scotese, I.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.