The role of heterozygous mutations of the autoimmune regulator gene (AIRE) in non-APECED autoimmunity: a comment on recent findings

被引：6

作者：

Fierabracci, Alessandra ^{[1
]}

机构：

[1] Childrens Hosp, Bambino Gesu Res Inst, Res Labs, Rome, Italy

来源：

CLINICAL ENDOCRINOLOGY | 2011年 / 74卷 / 04期

关键词：

INSULIN EXPRESSION; INTERFERON-OMEGA; HUMAN THYMUS; IDDM2; LOCUS;

D O I：

10.1111/j.1365-2265.2010.03930.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：532 / 533

页数：2

共 10 条

[1] AIRE deficiency in thymus of 2 patients with Omenn syndrome [J].

Cavadini, P ;

Vermi, W ;

Facchetti, F ;

Fontana, S ;

Nagafuchi, S ;

Mazzolari, E ;

Sediva, A ;

Marrella, V ;

Villa, A ;

Fischer, A ;

Notarangelo, LD ;

Badolato, R .

JOURNAL OF CLINICAL INVESTIGATION, 2005, 115 (03) :728-732

[2] AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED [J].

Cervato, Sara ;

Morlin, Luca ;

Albergoni, Maria Paola ;

Masiero, Stefano ;

Greggio, Nella ;

Meossi, Cristiano ;

Chen, Shu ;

Larosa, Maria del Pilar ;

Furmaniak, Jadwiga ;

Smith, Bernard Rees ;

Alimohammadi, Mohammad ;

Kampe, Olle ;

Valenzise, Mariella ;

Betterle, Corrado .

CLINICAL ENDOCRINOLOGY, 2010, 73 (05) :630-636

[3] 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].

Cetani, F ;

Barbesino, G ;

Borsari, S ;

Pardi, E ;

Cianferotti, L ;

Pinchera, A ;

Marcocci, C .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (10) :4747-4752

[4] Insulin expression levels in the thymus modulate insulin-specific autoreactive T-cell tolerance -: The mechanism by which the IDDM2 locus may predispose to diabetes [J].

Chentoufi, AA ;

Polychronakos, C .

DIABETES, 2002, 51 (05) :1383-1390

[5] Thymus-specific deletion of insulin induces autoimmune diabetes [J].

Fan, Yong ;

Rudert, William A. ;

Grupillo, Maria ;

He, Jing ;

Sisino, Giorgia ;

Trucco, Massimo .

EMBO JOURNAL, 2009, 28 (18) :2812-2824

[6]

FIERABRACCI A, 2010, AUTOIMMUN REV, DOI DOI 10.1016/J.AUTREV.2010.98.019

[7] The insulin gene is transcribed in the human thymus and transcription levels correlate with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes [J].

Pugliese, A ;

Zeller, M ;

Fernandez, A ;

Zalcberg, LJ ;

Bartlett, RJ ;

Ricordi, C ;

Pietropaolo, M ;

Eisenbarth, GS ;

Bennett, ST ;

Patel, DD .

NATURE GENETICS, 1997, 15 (03) :293-297

[8] Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire [J].

Su, Maureen A. ;

Giang, Karen ;

Zumer, Kristina ;

Jiang, Huimin ;

Oven, Irena ;

Rinn, John L. ;

DeVoss, Jason J. ;

Johannes, Kellsey P. A. ;

Lu, Wen ;

Gardner, James ;

Chang, Angela ;

Bubulya, Paula ;

Chang, Howard Y. ;

Peterlin, B. Matija ;

Anderson, Mark S. .

JOURNAL OF CLINICAL INVESTIGATION, 2008, 118 (05) :1712-1726

[9] Novel sequence variation of AIRE and detection of interferon-ω antibodies in early infancy [J].

Toth, Beata ;

Wolff, Anette S. B. ;

Halasz, Zita ;

Tar, Attila ;

Szuets, Peter ;

Ilyes, Istvan ;

Erdos, Melinda ;

Szegedi, Gyula ;

Husebye, Eystein S. ;

Zeher, Margit ;

Marodi, Laszlo .

CLINICAL ENDOCRINOLOGY, 2010, 72 (05) :641-647

[10] Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus [J].

Vafiadis, P ;

Bennett, ST ;

Todd, JA ;

Nadeau, J ;

Grabs, R ;

Goodyer, CG ;

Wickramasinghe, S ;

Colle, E ;

Polychronakos, C .

NATURE GENETICS, 1997, 15 (03) :289-292

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