Hereditary immunologic disorders caused by pyrin and cryopyrin

被引:6
作者
Hoffman, Hal M. [1 ]
机构
[1] Univ Calif San Diego, Sch Med, Div Rheumatol Allergy & Immunol, La Jolla, CA 92093 USA
关键词
D O I
10.1007/s11882-007-0049-4
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
A new family of hereditary immunologic disorders known as the autoinflammatory diseases involves dysregulation of the innate immune system. Elucidation of the genetic basis of these disorders has resulted in improved understanding of the disease pathophysiology of systemic and tissue inflammation, and has also revealed novel nonpathologic innate immune mechanisms. These advances have also resulted in direct improvement in diagnosis and therapy for autoinflammatory disorders such as the cryopyrinopathies and familial Mediterranean fever and have implications for more common inflammatory diseases.
引用
收藏
页码:323 / 330
页数:8
相关论文
共 55 条
[1]   NALP3 forms an IL-lβ-Processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder [J].
Agostini, L ;
Martinon, F ;
Burns, K ;
McDermott, MF ;
Hawkins, PN ;
Tschopp, J .
IMMUNITY, 2004, 20 (03) :319-325
[2]   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
[3]  
Aksentijevich I, 1997, CELL, V90, P797
[4]   The clinical continuum of cryopyrinopathies -: Novel CIAS1 mutations in north American patients and a new cryopyrin model [J].
Aksentijevich, Ivona ;
Putnam, Christopher D. ;
Remmers, Elaine F. ;
Mueller, James L. ;
Le, Julie ;
Kolodner, Richard D. ;
Moak, Zachary ;
Chuang, Michael ;
Austin, Frances ;
Goldbach-Mansky, Raphaela ;
Hoffman, Hal M. ;
Kastner, Daniel L. .
ARTHRITIS AND RHEUMATISM, 2007, 56 (04) :1273-1285
[5]   Structural, expression, and evolutionary analysis of mouse CIASI [J].
Anderson, JP ;
Mueller, JL ;
Rosengren, S ;
Boyle, DL ;
Schaner, P ;
Cannon, SB ;
Goodyear, CS ;
Hoffman, HM .
GENE, 2004, 338 (01) :25-34
[6]  
AUSTEN KF, 1971, JOHNS HOPKINS MED J, V128, P57
[7]   Are innate immune signaling pathways in plants and animals conserved? [J].
Ausubel, FM .
NATURE IMMUNOLOGY, 2005, 6 (10) :973-979
[8]   Plant disease resistance protein signaling: NBS-LRR proteins and their partners [J].
Belkhadir, Y ;
Subramaniam, R ;
Dangl, JL .
CURRENT OPINION IN PLANT BIOLOGY, 2004, 7 (04) :391-399
[9]  
Bernot A, 1997, NAT GENET, V17, P25
[10]   The PYRIN domain: a novel motif found in apoptosis and inflammation proteins [J].
Bertin, J ;
DiStefano, PS .
CELL DEATH AND DIFFERENTIATION, 2000, 7 (12) :1273-1274