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Volumn 43, Issue , 2016, Pages 8-15

AIRE-mutations and autoimmune disease

Author keywords

[No Author keywords available]

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; CARD PROTEIN; DNA BINDING PROTEIN; PHD1 PROTEIN; SAND PROTEIN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; TRANSCRIPTION FACTOR;

EID: 84982854553     PISSN: 09527915     EISSN: 18790372     Source Type: Journal    
DOI: 10.1016/j.coi.2016.07.003     Document Type: Review
Times cited : (102)

References (62)
  • 2
    • 0346599403 scopus 로고    scopus 로고
    • An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
    • 2 Consortium, F-G.A., An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 17 (1997), 399–403.
    • (1997) Nat Genet , vol.17 , pp. 399-403
    • Consortium, F.-G.A.1
  • 3
    • 84928581675 scopus 로고    scopus 로고
    • Immune tolerance. Regulatory T cells generated early in life play a distinct role in maintaining self-tolerance
    • This study in mice report that Aire promotes a perinatal generation of a distinct compartment of Treg cells, which stably persists in adult mice and seems to have a role in maintaining self-tolerance.
    • 3• 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 348 (2015), 589–594 This study in mice report that Aire promotes a perinatal generation of a distinct compartment of Treg cells, which stably persists in adult mice and seems to have a role in maintaining self-tolerance.
    • (2015) Science , vol.348 , pp. 589-594
    • Yang, S.1    Fujikado, N.2    Kolodin, D.3    Benoist, C.4    Mathis, D.5
  • 4
    • 84961218930 scopus 로고    scopus 로고
    • AIRE expands: new roles in immune tolerance and beyond
    • In this excellent review, the authors discuss the complex biology of AIRE, focusing on recent advances in genetics, molecular interactions and immune tolerance.
    • 4• Anderson, M.S., Su, M.A., AIRE expands: new roles in immune tolerance and beyond. Nat Rev Immunol 16 (2016), 247–258 In this excellent review, the authors discuss the complex biology of AIRE, focusing on recent advances in genetics, molecular interactions and immune tolerance.
    • (2016) Nat Rev Immunol , vol.16 , pp. 247-258
    • Anderson, M.S.1    Su, M.A.2
  • 5
    • 84891339888 scopus 로고    scopus 로고
    • The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein
    • 5 Perniola, R., Musco, G., The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein. Biochim Biophys Acta 1842 (2014), 326–337.
    • (2014) Biochim Biophys Acta , vol.1842 , pp. 326-337
    • Perniola, R.1    Musco, G.2
  • 6
    • 84963569487 scopus 로고    scopus 로고
    • Autoimmune regulator and self-tolerance — molecular and clinical aspects
    • 6 Abramson, J., Husebye, E.S., Autoimmune regulator and self-tolerance — molecular and clinical aspects. Immunol Rev 271 (2016), 127–140.
    • (2016) Immunol Rev , vol.271 , pp. 127-140
    • Abramson, J.1    Husebye, E.S.2
  • 7
    • 84982853672 scopus 로고    scopus 로고
    • Human Gene Mutation Database. Edited by.
    • 7 Human Gene Mutation Database. Edited by http://www.hgmd.cf.ac.uk/ac/index.php.
  • 8
    • 0025295238 scopus 로고
    • Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
    • 8 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 322 (1990), 1829–1836.
    • (1990) N Engl J Med , vol.322 , pp. 1829-1836
    • Ahonen, P.1    Myllarniemi, S.2    Sipila, I.3    Perheentupa, J.4
  • 10
    • 0026481974 scopus 로고
    • Polyglandular autoimmune syndrome type I among Iranian Jews
    • 10 Zlotogora, J., Shapiro, M.S., Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 29 (1992), 824–826.
    • (1992) J Med Genet , vol.29 , pp. 824-826
    • Zlotogora, J.1    Shapiro, M.S.2
  • 12
    • 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
    • 12 Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., Gremida, M., Krajewski, P., 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 70 (2006), 348–354.
    • (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    Wlodarski, P.7    Skorka, A.8    Gremida, M.9    Krajewski, P.10
  • 13
    • 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
    • 13 Podkrajsek, K.T., 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 90 (2005), 4930–4935.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 4930-4935
    • Podkrajsek, K.T.1    Bratanic, N.2    Krzisnik, C.3    Battelino, T.4
  • 14
    • 0032470812 scopus 로고    scopus 로고
    • A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1
    • 14 Pearce, S.H., Cheetham, T., Imrie, H., Vaidya, B., Barnes, N.D., Bilous, R.W., Carr, D., Meeran, K., Shaw, N.J., Smith, C.S., et al. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Am J Hum Genet 63 (1998), 1675–1684.
    • (1998) Am J Hum Genet , vol.63 , pp. 1675-1684
    • Pearce, S.H.1    Cheetham, T.2    Imrie, H.3    Vaidya, B.4    Barnes, N.D.5    Bilous, R.W.6    Carr, D.7    Meeran, K.8    Shaw, N.J.9    Smith, C.S.10
  • 16
    • 51849158843 scopus 로고    scopus 로고
    • High prevalence of thyroid autoimmunity in Apulian patients with autoimmune polyglandular syndrome type 1
    • 16 Perniola, R., Filograna, O., Greco, G., Pellegrino, V., High prevalence of thyroid autoimmunity in Apulian patients with autoimmune polyglandular syndrome type 1. Thyroid 18 (2008), 1027–1029.
    • (2008) Thyroid , vol.18 , pp. 1027-1029
    • Perniola, R.1    Filograna, O.2    Greco, G.3    Pellegrino, V.4
  • 18
    • 84904530008 scopus 로고    scopus 로고
    • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional Sicilian patients and overview of the overall series from Sicily
    • 18 Valenzise, M., Fierabracci, A., Cappa, M., Porcelli, P., Barcellona, R., De Luca, F., Barollo, S., Garelli, S., Betterle, C., Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional Sicilian patients and overview of the overall series from Sicily. Horm Res Paediatr 82 (2014), 127–132.
    • (2014) Horm Res Paediatr , vol.82 , pp. 127-132
    • Valenzise, M.1    Fierabracci, A.2    Cappa, M.3    Porcelli, P.4    Barcellona, R.5    De Luca, F.6    Barollo, S.7    Garelli, S.8    Betterle, C.9
  • 19
    • 0038824426 scopus 로고    scopus 로고
    • The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein
    • 19 Pitkanen, J., Doucas, V., Sternsdorf, T., Nakajima, T., Aratani, S., Jensen, K., Will, H., Vahamurto, P., Ollila, J., Vihinen, M., et al. The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. J Biol Chem 275 (2000), 16802–16809.
    • (2000) J Biol Chem , vol.275 , pp. 16802-16809
    • Pitkanen, J.1    Doucas, V.2    Sternsdorf, T.3    Nakajima, T.4    Aratani, S.5    Jensen, K.6    Will, H.7    Vahamurto, P.8    Ollila, J.9    Vihinen, M.10
  • 21
    • 0032127876 scopus 로고    scopus 로고
    • The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor
    • 21 Gibson, T.J., Ramu, C., Gemund, 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 (1998), 242–244.
    • (1998) Trends Biochem Sci , vol.23 , pp. 242-244
    • Gibson, T.J.1    Ramu, C.2    Gemund, C.3    Aasland, R.4
  • 23
    • 0037115481 scopus 로고    scopus 로고
    • Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting
    • 23 Ramsey, C., Bukrinsky, A., Peltonen, L., Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting. Hum Mol Genet 11 (2002), 3299–3308.
    • (2002) Hum Mol Genet , vol.11 , pp. 3299-3308
    • Ramsey, C.1    Bukrinsky, A.2    Peltonen, L.3
  • 25
    • 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
    • 25 Cetani, F., Barbesino, G., Borsari, S., Pardi, E., Cianferotti, L., Pinchera, A., Marcocci, C., 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 86 (2001), 4747–4752.
    • (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    Marcocci, C.7
  • 27
    • 84906050589 scopus 로고    scopus 로고
    • The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
    • 27 Bellacchio, E., Palma, A., Corrente, S., Di Girolamo, F., Helen Kemp, E., Di Matteo, G., Comelli, L., Carsetti, R., Cascioli, S., Cancrini, C., et al. The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant. Gene 549 (2014), 286–294.
    • (2014) Gene , vol.549 , pp. 286-294
    • Bellacchio, E.1    Palma, A.2    Corrente, S.3    Di Girolamo, F.4    Helen Kemp, E.5    Di Matteo, G.6    Comelli, L.7    Carsetti, R.8    Cascioli, S.9    Cancrini, C.10
  • 28
    • 0036988089 scopus 로고    scopus 로고
    • Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis
    • 28 Tazi-Ahnini, R., Cork, M.J., Gawkrodger, D.J., Birch, M.P., Wengraf, D., McDonagh, A.J., Messenger, A.G., Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis. Tissue Antigens 60 (2002), 489–495.
    • (2002) Tissue Antigens , vol.60 , pp. 489-495
    • Tazi-Ahnini, R.1    Cork, M.J.2    Gawkrodger, D.J.3    Birch, M.P.4    Wengraf, D.5    McDonagh, A.J.6    Messenger, A.G.7
  • 29
    • 79958701491 scopus 로고    scopus 로고
    • The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population
    • 29 Terao, C., Yamada, R., Ohmura, K., Takahashi, M., Kawaguchi, T., Kochi, Y., Okada, Y., Nakamura, Y., Yamamoto, K., Melchers, I., et al. The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population. Hum Mol Genet 20 (2011), 2680–2685.
    • (2011) Hum Mol Genet , vol.20 , pp. 2680-2685
    • Terao, C.1    Yamada, R.2    Ohmura, K.3    Takahashi, M.4    Kawaguchi, T.5    Kochi, Y.6    Okada, Y.7    Nakamura, Y.8    Yamamoto, K.9    Melchers, I.10
  • 31
    • 56749174388 scopus 로고    scopus 로고
    • Aire employs a histone-binding module to mediate immunological tolerance, linking chromatin regulation with organ-specific autoimmunity
    • 31 Koh, A.S., Kuo, A.J., Park, S.Y., Cheung, P., Abramson, J., Bua, D., Carney, D., Shoelson, S.E., Gozani, O., Kingston, R.E., 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 105 (2008), 15878–15883.
    • (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    Carney, D.7    Shoelson, S.E.8    Gozani, O.9    Kingston, R.E.10
  • 32
    • 84873107959 scopus 로고    scopus 로고
    • Aire's plant homeodomain (PHD)-2 is critical for induction of immunological tolerance
    • In this study, the role of PHD2 in Aire function is investigated by comparing the behavior of wild-type and PHD2-deleted Aire in both transfected cells and transgenic mice.
    • 32• Yang, S., Bansal, K., Lopes, J., Benoist, C., Mathis, D., Aire's plant homeodomain (PHD)-2 is critical for induction of immunological tolerance. Proc Natl Acad Sci U S A 110 (2013), 1833–1838 In this study, the role of PHD2 in Aire function is investigated by comparing the behavior of wild-type and PHD2-deleted Aire in both transfected cells and transgenic mice.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 1833-1838
    • Yang, S.1    Bansal, K.2    Lopes, J.3    Benoist, C.4    Mathis, D.5
  • 33
    • 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
    • 33 Bjorses, P., Halonen, M., Palvimo, J.J., Kolmer, M., Aaltonen, J., Ellonen, P., Perheentupa, J., Ulmanen, I., Peltonen, L., 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 (2000), 378–392.
    • (2000) Am J Hum Genet , vol.66 , pp. 378-392
    • Bjorses, P.1    Halonen, M.2    Palvimo, J.J.3    Kolmer, M.4    Aaltonen, J.5    Ellonen, P.6    Perheentupa, J.7    Ulmanen, I.8    Peltonen, L.9
  • 34
    • 0035038458 scopus 로고    scopus 로고
    • Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
    • 34 Saugier-Veber, P., Drouot, N., Wolf, L.M., Kuhn, J.M., Frebourg, T., Lefebvre, H., Identification of a novel mutation in the autoimmune regulator (AIRE-1) gene in a French family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Eur J Endocrinol 144 (2001), 347–351.
    • (2001) Eur J Endocrinol , vol.144 , pp. 347-351
    • Saugier-Veber, P.1    Drouot, N.2    Wolf, L.M.3    Kuhn, J.M.4    Frebourg, T.5    Lefebvre, H.6
  • 35
    • 0035035492 scopus 로고    scopus 로고
    • Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1
    • 35 Vogel, A., Liermann, H., Harms, A., Strassburg, C.P., Manns, M.P., Obermayer-Straub, P., Autoimmune regulator AIRE: evidence for genetic differences between autoimmune hepatitis and hepatitis as part of the autoimmune polyglandular syndrome type 1. Hepatology 33 (2001), 1047–1052.
    • (2001) Hepatology , vol.33 , pp. 1047-1052
    • Vogel, A.1    Liermann, H.2    Harms, A.3    Strassburg, C.P.4    Manns, M.P.5    Obermayer-Straub, P.6
  • 36
    • 84937598338 scopus 로고    scopus 로고
    • Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases
    • This study reports families with mono-allelic mutations in the first plant homeodomain (PHD1) finger of AIRE which suppress gene expression of wild-type AIRE in a dominant-negative manner.
    • 36•• Oftedal, B.E., Hellesen, A., Erichsen, M.M., Bratland, E., Vardi, A., Perheentupa, J., Kemp, E.H., Fiskerstrand, T., Viken, M.K., Weetman, A.P., et al. Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. Immunity 42 (2015), 1185–1196 This study reports families with mono-allelic mutations in the first plant homeodomain (PHD1) finger of AIRE which suppress gene expression of wild-type AIRE in a dominant-negative manner.
    • (2015) Immunity , vol.42 , pp. 1185-1196
    • Oftedal, B.E.1    Hellesen, A.2    Erichsen, M.M.3    Bratland, E.4    Vardi, A.5    Perheentupa, J.6    Kemp, E.H.7    Fiskerstrand, T.8    Viken, M.K.9    Weetman, A.P.10
  • 39
    • 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
    • 39 Podkrajsek, K.T., Milenkovic, T., Odink, R.J., Claasen-van der Grinten, H.L., Bratanic, N., Hovnik, T., Battelino, T., 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 159 (2008), 633–639.
    • (2008) Eur J Endocrinol , vol.159 , pp. 633-639
    • Podkrajsek, K.T.1    Milenkovic, T.2    Odink, R.J.3    Claasen-van der Grinten, H.L.4    Bratanic, N.5    Hovnik, T.6    Battelino, T.7
  • 41
    • 84872192656 scopus 로고    scopus 로고
    • A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1
    • 41 Zhang, J., Liu, H., Liu, Z., Liao, Y., Guo, L., Wang, H., He, L., Zhang, X., Xing, Q., A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. PLOS ONE, 8, 2013, e53981.
    • (2013) PLOS ONE , vol.8 , pp. e53981
    • Zhang, J.1    Liu, H.2    Liu, Z.3    Liao, Y.4    Guo, L.5    Wang, H.6    He, L.7    Zhang, X.8    Xing, Q.9
  • 42
    • 84929377689 scopus 로고    scopus 로고
    • The AIRE −230Y polymorphism affects AIRE transcriptional activity: potential influence on AIRE function in the thymus
    • This study describes two single nuclear polymorphisms in the promotor region of AIRE showing difference on luciferase activity using different AIRE promotor reporter constructs.
    • 42• Lovewell, T.R., McDonagh, A.J., Messenger, A.G., Azzouz, M., Tazi-Ahnini, R., The AIRE −230Y polymorphism affects AIRE transcriptional activity: potential influence on AIRE function in the thymus. PLOS ONE, 10, 2015, e0127476 This study describes two single nuclear polymorphisms in the promotor region of AIRE showing difference on luciferase activity using different AIRE promotor reporter constructs.
    • (2015) PLOS ONE , vol.10 , pp. e0127476
    • Lovewell, T.R.1    McDonagh, A.J.2    Messenger, A.G.3    Azzouz, M.4    Tazi-Ahnini, R.5
  • 43
    • 84961281515 scopus 로고    scopus 로고
    • Identification of a novel cis-regulatory element essential for immune tolerance
    • In this study, the authors used transgenic mice for the identification of a NFKB-responsive element which seems essential for Aire expression.
    • 43• LaFlam, T.N., Seumois, G., Miller, C.N., Lwin, W., Fasano, K.J., Waterfield, M., Proekt, I., Vijayanand, P., Anderson, M.S., Identification of a novel cis-regulatory element essential for immune tolerance. J Exp Med 212 (2015), 1993–2002 In this study, the authors used transgenic mice for the identification of a NFKB-responsive element which seems essential for Aire expression.
    • (2015) J Exp Med , vol.212 , pp. 1993-2002
    • LaFlam, T.N.1    Seumois, G.2    Miller, C.N.3    Lwin, W.4    Fasano, K.J.5    Waterfield, M.6    Proekt, I.7    Vijayanand, P.8    Anderson, M.S.9
  • 45
    • 84900829275 scopus 로고    scopus 로고
    • Autoimmune regulator expression in thymomas with or without autoimmune disease
    • 45 Liu, Y., Zhang, H., Zhang, P., Meng, F., Chen, Y., Wang, Y., Yao, Y., Qi, B., Autoimmune regulator expression in thymomas with or without autoimmune disease. Immunol Lett 161 (2014), 50–56.
    • (2014) Immunol Lett , vol.161 , pp. 50-56
    • Liu, Y.1    Zhang, H.2    Zhang, P.3    Meng, F.4    Chen, Y.5    Wang, Y.6    Yao, Y.7    Qi, B.8
  • 52
    • 84907485548 scopus 로고    scopus 로고
    • Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens
    • 52 Gimenez-Barcons, M., Casteras, A., Armengol Mdel, P., Porta, E., Correa, P.A., Marin, A., Pujol-Borrell, R., Colobran, R., Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens. J Immunol 193 (2014), 3872–3879.
    • (2014) J Immunol , vol.193 , pp. 3872-3879
    • Gimenez-Barcons, M.1    Casteras, A.2    Armengol Mdel, P.3    Porta, E.4    Correa, P.A.5    Marin, A.6    Pujol-Borrell, R.7    Colobran, R.8
  • 54
    • 84991282566 scopus 로고    scopus 로고
    • AIRE genetic variants and predisposition to polygenic autoimmune disease: the case of Graves’ disease and a systematic literature review
    • This recent review reports a systematic literature search on genetics variants in AIRE and predisposition to polygenic disease.
    • 54• Colobran, R., Gimenez-Barcons, M., Marin-Sanchez, A., Porta-Pardo, E., Pujol-Borrell, R., AIRE genetic variants and predisposition to polygenic autoimmune disease: the case of Graves’ disease and a systematic literature review. Hum Immunol, 2016 This recent review reports a systematic literature search on genetics variants in AIRE and predisposition to polygenic disease.
    • (2016) Hum Immunol
    • Colobran, R.1    Gimenez-Barcons, M.2    Marin-Sanchez, A.3    Porta-Pardo, E.4    Pujol-Borrell, R.5
  • 60
    • 0034454508 scopus 로고    scopus 로고
    • A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association
    • 60 Nithiyananthan, R., Heward, J.M., Allahabadia, A., Barnett, A.H., Franklyn, J.A., Gough, S.C., A heterozygous deletion of the autoimmune regulator (AIRE1) gene, autoimmune thyroid disease, and type 1 diabetes: no evidence for association. J Clin Endocrinol Metab 85 (2000), 1320–1322.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1320-1322
    • Nithiyananthan, R.1    Heward, J.M.2    Allahabadia, A.3    Barnett, A.H.4    Franklyn, J.A.5    Gough, S.C.6


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