Autoinflammatory Disease Reloaded: A Clinical Perspective

被引：368

作者：

Kastner, Daniel L. ^{[1
]}

Aksentijevich, Ivona ^{[1
]}

Goldbach-Mansky, Raphaela ^{[1
]}

机构：

[1] NIAMSD, Clin Invest Lab, NIH, Bethesda, MD 20892 USA

来源：

CELL | 2010年 / 140卷 / 06期

关键词：

FAMILIAL MEDITERRANEAN FEVER; NALP3; INFLAMMASOME; B30.2; DOMAIN; PYRIN; MUTATIONS; PROTEIN; INTERLEUKIN-1-BETA; CIAS1; INHIBITION; ACTIVATION;

D O I：

10.1016/j.cell.2010.03.002

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Our understanding of the etiology of autoinflammatory disease is growing rapidly. Recent advances offer new opportunities for therapeutic intervention and suggest that the definition of what constitutes an autoinflammatory disease should be reassessed.

引用

页码：784 / 790

页数：7

共 51 条

[1] De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID) -: A new member of the expanding family of pyrin-associated autoinflammatory diseases [J].

Aksentijevich, I ;

Nowak, M ;

Mallah, M ;

Chae, JJ ;

Watford, WT ;

Hofmann, SR ;

Stein, L ;

Russo, R ;

Goldsmith, D ;

Dent, P ;

Rosenberg, HF ;

Austin, F ;

Remmers, EF ;

Balow, JE ;

Rosenzweig, S ;

Komarow, H ;

Shoham, NG ;

Wood, G ;

Jones, J ;

Mangra, N ;

Carrero, H ;

Adams, BS ;

Moore, TL ;

Schikler, K ;

Hoffman, H ;

Lovell, DJ ;

Lipnick, R ;

Barron, K ;

O'Shea, JJ ;

Kastner, DL ;

Goldbach-Mansky, R .

ARTHRITIS AND RHEUMATISM, 2002, 46 (12) :3340-3348

[2] Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population [J].

Aksentijevich, I ;

Torosyan, Y ;

Samuels, J ;

Centola, M ;

Pras, E ;

Chae, JJ ;

Oddoux, C ;

Wood, G ;

Azzaro, MP ;

Palumbo, G ;

Giustolisi, R ;

Pras, M ;

Ostrer, H ;

Kastner, DL .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (04) :949-962

[3]

Aksentijevich I, 1997, CELL, V90, P797

[4] An Autoinflammatory Disease with Deficiency of the Interleukin-1-Receptor Antagonist [J].

Aksentijevich, Ivona ;

Masters, Seth L. ;

Ferguson, Polly J. ;

Dancey, Paul ;

Frenkel, Joost ;

van Royen-Kerkhoff, Annet ;

Laxer, Ron ;

Tedgard, Ulf ;

Cowen, Edward W. ;

Pham, Tuyet-Hang ;

Booty, Matthew ;

Estes, Jacob D. ;

Sandler, Netanya G. ;

Plass, Nicole ;

Stone, Deborah L. ;

Turner, Maria L. ;

Hill, Suvimol ;

Butman, John A. ;

Schneider, Rayfel ;

Babyn, Paul ;

El-Shanti, Hatem I. ;

Pope, Elena ;

Barron, Karyl ;

Bing, Xinyu ;

Laurence, Arian ;

Lee, Chyi-Chia R. ;

Chapelle, Dawn ;

Clarke, Gillian I. ;

Ohson, Kamal ;

Nicholson, Marc ;

Gadina, Massimo ;

Yang, Barbara ;

Korman, Benjamin D. ;

Gregersen, Peter K. ;

van Hagen, P. Martin ;

Hak, A. Elisabeth ;

Huizing, Marjan ;

Rahman, Proton ;

Douek, Daniel C. ;

Remmers, Elaine F. ;

Kastner, Daniel L. ;

Goldbach-Mansky, Raphaela .

NEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (23) :2426-2437

[5] Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade [J].

Allantaz, Florence ;

Chaussabel, Damien ;

Stichweh, Dorothee ;

Bennett, Lynda ;

Allman, Windy ;

Mejias, Asuncion ;

Ardura, Monica ;

Chung, Wendy ;

Wise, Carol ;

Palucka, Karolina ;

Ramilo, Octavio ;

Punaro, Marilynn ;

Banchereau, Jacques ;

Pascual, Virginia .

JOURNAL OF EXPERIMENTAL MEDICINE, 2007, 204 (09) :2131-2144

[6]

Bernot A, 1997, NAT GENET, V17, P25

[7] Familial Mediterranean Fever With a Single MEFV Mutation Where Is the Second Hit? [J].

Booty, Matthew G. ;

Chae, Jae Jin ;

Masters, Seth L. ;

Remmers, Elaine F. ;

Barham, Beverly ;

Le, Julie M. ;

Barron, Karyl S. ;

Holland, Steve M. ;

Kastner, Daniel L. ;

Aksentijevich, Ivona .

ARTHRITIS AND RHEUMATISM, 2009, 60 (06) :1851-1861

[8] Inflammasome-Mediated Disease Animal Models Reveal Roles for Innate but Not Adaptive Immunity [J].

Brydges, Susannah D. ;

Mueller, James L. ;

McGeough, Matthew D. ;

Pena, Carla A. ;

Misaghi, Amirhossein ;

Gandhi, Chhavi ;

Putnam, Chris D. ;

Boyle, David L. ;

Firestein, Gary S. ;

Horner, Anthony A. ;

Soroosh, Pejman ;

Watford, Wendy T. ;

O'Shea, John J. ;

Kastner, Daniel L. ;

Hoffman, Hal M. .

IMMUNITY, 2009, 30 (06) :875-887

[9] The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1β production [J].

Chae, Jae Jin ;

Wood, Geryl ;

Masters, Seth L. ;

Richard, Katharina ;

Park, Grace ;

Smith, Brian J. ;

Kastner, Daniel L. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (26) :9982-9987

[10] Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis [J].

Chae, JJ ;

Komarow, HD ;

Cheng, J ;

Wood, G ;

Raben, N ;

Liu, PP ;

Kastner, DL .

MOLECULAR CELL, 2003, 11 (03) :591-604

← 1 2 3 4 5 6 →