More than Meets the Eye: Monogenic Autoimmunity Strikes Again

被引：8

作者：

Anderson, Mark S. ^{[1
]}

Casanova, Jean-Laurent ^{[2
,3
,4
,5
,6
]}

机构：

[1] Univ Calif San Francisco, Ctr Diabet, San Francisco, CA 94143 USA

[2] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 10065 USA

[3] Howard Hughes Med Inst, New York, NY 10065 USA

[4] Necker Hosp Sick Children, INSERM, Lab Human Genet Infect Dis, Necker Branch,U980, F-75015 Paris, France

[5] Paris Descartes Univ, Imagine Inst, F-75015 Paris, France

[6] Necker Hosp Sick Children, Pediat Hematol & Immunol Unit, F-75015 Paris, France

来源：

IMMUNITY | 2015年 / 42卷 / 06期

关键词：

AIRE; MUTATIONS; GENE;

D O I：

10.1016/j.immuni.2015.06.004

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Autoimmunity is often familial, suggesting that inborn genetic variations might underlie its development. Curiously, autoimmunity has long been thought to be typically polygenic. Contrary to this prediction and consistent with growing discoveries of monogenic autoimmunity, Oftedal et al. discovered heterozygous dominant-negative AIRE mutations in patients with certain forms of autoimmunity.

引用

页码：986 / 988

页数：3

共 9 条

[1] Projection of an immunological self shadow within the thymus by the aire protein [J].

Anderson, MS ;

Venanzi, ES ;

Klein, L ;

Chen, ZB ;

Berzins, SP ;

Turley, SJ ;

von Boehmer, H ;

Bronson, R ;

Dierich, A ;

Benoist, C ;

Mathis, D .

SCIENCE, 2002, 298 (5597) :1395-1401

[2] Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies [J].

Casanova, Jean-Laurent ;

Conley, Mary Ellen ;

Seligman, Stephen J. ;

Abel, Laurent ;

Notarangelo, Luigi D. .

JOURNAL OF EXPERIMENTAL MEDICINE, 2014, 211 (11) :2137-2149

[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] Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4 [J].

Kuehn, Hye Sun ;

Ouyang, Weiming ;

Lo, Bernice ;

Deenick, Elissa K. ;

Niemela, Julie E. ;

Avery, Danielle T. ;

Schickel, Jean-Nicolas ;

Tran, Dat Q. ;

Stoddard, Jennifer ;

Zhang, Yu ;

Frucht, David M. ;

Dumitriu, Bogdan ;

Scheinberg, Phillip ;

Folio, Les R. ;

Frein, Cathleen A. ;

Price, Susan ;

Koh, Christopher ;

Heller, Theo ;

Seroogy, Christine M. ;

Huttenlocher, Anna ;

Rao, V. Koneti ;

Su, Helen C. ;

Kleiner, David ;

Notarangelo, Luigi D. ;

Rampertaap, Yajesh ;

Olivier, Kenneth N. ;

McElwee, Joshua ;

Hughes, Jason ;

Pittaluga, Stefania ;

Oliveira, Joao B. ;

Meffre, Eric ;

Fleisher, Thomas A. ;

Holland, Steven M. ;

Lenardo, Michael J. ;

Tangye, Stuart G. ;

Uzel, Gulbu .

SCIENCE, 2014, 345 (6204) :1623-1627

[5] Gene dosage-limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity [J].

Liston, A ;

Gray, DHD ;

Lesage, S ;

Fletcher, AL ;

Wilson, J ;

Webster, KE ;

Scott, HS ;

Boyd, RL ;

Peltonen, L ;

Goodnow, CC .

JOURNAL OF EXPERIMENTAL MEDICINE, 2004, 200 (08) :1015-1026

[6] Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation [J].

Magerus-Chatinet, Aude ;

Neven, Benedicte ;

Stolzenberg, Marie-Claude ;

Daussy, Cecile ;

Arkwright, Peter D. ;

Lanzarotti, Nina ;

Schaffner, Catherine ;

Cluet-Dennetiere, Sophie ;

Haerynck, Filomeen ;

Michel, Gerard ;

Bole-Feysot, Christine ;

Zarhrate, Mohammed ;

Radford-Weiss, Isabelle ;

Romana, Serge P. ;

Picard, Capucine ;

Fischer, Alain ;

Rieux-Laucat, Frederic .

JOURNAL OF CLINICAL INVESTIGATION, 2011, 121 (01) :106-112

[7] Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases [J].

Oftedal, Bergithe E. ;

Hellesen, Alexander ;

Erichsen, Martina M. ;

Bratland, Eirik ;

Vardi, Ayelet ;

Perheentupa, Jaakko ;

Kemp, E. Helen ;

Fiskerstrand, Torunn ;

Viken, Marte K. ;

Weetman, Anthony P. ;

Fleishman, Sarel J. ;

Banka, Siddharth ;

Newman, William G. ;

Sewell, W. A. C. ;

Sozaeva, Leila S. ;

Zayats, Tetyana ;

Haugarvoll, Kristoffer ;

Orlova, Elizaveta M. ;

Haavik, Jan ;

Johansson, Stefan ;

Knappskog, Per M. ;

Lovas, Kristian ;

Wolff, Anette S. B. ;

Abramson, Jakub ;

Husebye, Eystein S. .

IMMUNITY, 2015, 42 (06) :1185-1196

[8] Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling [J].

Rice, Gillian I. ;

Duany, Yoandris del Toro ;

Jenkinson, Emma M. ;

Forte, Gabriella M. A. ;

Anderson, Beverley H. ;

Ariaudo, Giada ;

Bader-Meunier, Brigitte ;

Baildam, Eileen M. ;

Battini, Roberta ;

Beresford, Michael W. ;

Casarano, Manuela ;

Chouchane, Mondher ;

Cimaz, Rolando ;

Collins, Abigail E. ;

Cordeiro, Nuno J. V. ;

Dale, Russell C. ;

Davidson, Joyce E. ;

De Waele, Liesbeth ;

Desguerre, Isabelle ;

Faivre, Laurence ;

Fazzi, Elisa ;

Isidor, Bertrand ;

Lagae, Lieven ;

Latchman, Andrew R. ;

Lebon, Pierre ;

Li, Chumei ;

Livingston, John H. ;

Lourenco, Charles M. ;

Mancardi, Maria Margherita ;

Masurel-Paulet, Alice ;

McInnes, Lain B. ;

Menezes, Manoj P. ;

Mignot, Cyril ;

O'Sullivan, James ;

Orcesi, Simona ;

Picco, Paolo P. ;

Riva, Enrica ;

Robinson, Robert A. ;

Rodriguez, Diana ;

Salvatici, Elisabetta ;

Scott, Christiaan ;

Szybowska, Marta ;

Tolmie, John L. ;

Vanderver, Adeline ;

Vanhulle, Catherine ;

Vieira, Jose Pedro ;

Webb, Kate ;

Whitney, Robyn N. ;

Williams, Simon G. ;

Wolfe, Lynne A. .

NATURE GENETICS, 2014, 46 (05) :503-509

[9] 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

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