The pyrin family of fever genes - Unmasking genetic determinants of autoinflammatory disease

被引:18
作者
Shinkai, K [1 ]
Kilcline, C [1 ]
Connolly, MK [1 ]
Frieden, I [1 ]
机构
[1] Univ Calif San Francisco, Dept Pediat Dermatol, San Francisco, CA 94143 USA
关键词
D O I
10.1001/archderm.141.2.242
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 [皮肤病与性病学];
摘要
引用
收藏
页码:242 / 247
页数:6
相关论文
共 62 条
[1]
Toll-like receptors in the induction of the innate immune response [J].
Aderem, A ;
Ulevitch, RJ .
NATURE, 2000, 406 (6797) :782-787
[2]
Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis [J].
Aganna, E ;
Martinon, F ;
Hawkins, PN ;
Ross, JB ;
Swan, DC ;
Booth, DR ;
Lachmann, HJ ;
Gaudet, R ;
Woo, P ;
Feighery, C ;
Cotter, FE ;
Thome, M ;
Hitman, GA ;
Tschopp, J ;
McDermott, MF .
ARTHRITIS AND RHEUMATISM, 2002, 46 (09) :2445-2452
[3]
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
[4]
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
[5]
Aksentijevich I, 1997, CELL, V90, P797
[6]
BARAKAT MH, 1986, Q J MED, V60, P837
[7]
Involvement of NF-κB signalling in skin physiology and disease [J].
Bell, S ;
Degitz, K ;
Quirling, M ;
Jilg, N ;
Page, S ;
Brand, K .
CELLULAR SIGNALLING, 2003, 15 (01) :1-7
[8]
Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology [J].
Berlin, AL ;
Paller, AS ;
Chan, LS .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2002, 47 (02) :169-187
[9]
Bernot A, 1997, NAT GENET, V17, P25
[10]
FAMILIAL GRANULOMATOUS ARTHRITIS, IRITIS, AND RASH [J].
BLAU, EB .
JOURNAL OF PEDIATRICS, 1985, 107 (05) :689-693