CAPS and NLRP3

被引：179
作者：
Booshehri, Laela M. [1 ]
Hoffman, Hal M. [1 ]
机构：
[1] Univ Calif San Diego, Div Pediat Allergy Immunol & Rheumatol, Rady Childrens Hosp San Diego, San Diego, CA 92103 USA
来源：
JOURNAL OF CLINICAL IMMUNOLOGY | 2019年 / 39卷 / 03期
关键词：
Familial cold autoinflammatory syndrome; Muckle-Wells syndrome; neonatal onset multi-system inflammatory disease; inflammasome; cryopyrin-associated periodic syndromes; COLD AUTOINFLAMMATORY SYNDROME; MUCKLE-WELLS-SYNDROME; LONG-TERM EFFICACY; INFLAMMATORY DISEASE; CIAS1; MUTATIONS; ARTICULAR SYNDROME; TNF RECEPTOR; GASDERMIN D; PROTEIN; FAMILY;
D O I：
10.1007/s10875-019-00638-z
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
Cryopyrin-associated periodic syndrome (CAPS) is a rare inherited autoinflammatory disorder characterized by systemic, cutaneous, musculoskeletal, and central nervous system inflammation. Gain-of-function mutations in NLRP3 in CAPS patients lead to activation of the cryopyrin inflammasome, resulting in the inappropriate release of inflammatory cytokines including IL-1 beta and CAPS-related inflammatory symptoms. Several mechanisms have been identified that are important for the normal regulation of the cryopyrin inflammasome in order to prevent uncontrolled inflammation. Investigators have taken advantage of some of these pathways to develop and apply novel targeted therapies, which have resulted in improved quality of life for patients with this orphan disease.
引用
收藏
页码：277 / 286
页数：10
相关论文
共 84 条
[31]   Interleukin-1-receptor antagonist in the Muckle-Wells syndrome [J].
Hawkins, PN ;
Lachmann, HJ ;
McDermott, MF .
NEW ENGLAND JOURNAL OF MEDICINE, 2003, 348 (25) :2583-2584
[32]   Gasdermin D is an executor of pyroptosis and required for interleukin-1β secretion [J].
He, Wan-ting ;
Wan, Haoqiang ;
Hu, Lichen ;
Chen, Pengda ;
Wang, Xin ;
Huang, Zhe ;
Yang, Zhang-Hua ;
Zhong, Chuan-Qi ;
Han, Jiahuai .
CELL RESEARCH, 2015, 25 (12) :1285-1298
[33]   Mechanism and Regulation of NLRP3 Inflammasome Activation [J].
He, Yuan ;
Hara, Hideki ;
Nunez, Gabriel .
TRENDS IN BIOCHEMICAL SCIENCES, 2016, 41 (12) :1012-1021
[34]   Cutting Edge: Nitric Oxide Inhibits the NLRP3 Inflammasome [J].
Hernandez-Cuellar, Eduardo ;
Tsuchiya, Kohsuke ;
Hara, Hideki ;
Fang, Rendong ;
Sakai, Shunsuke ;
Kawamura, Ikuo ;
Akira, Shizuo ;
Mitsuyama, Masao .
JOURNAL OF IMMUNOLOGY, 2012, 189 (11) :5113-5117
[35]   Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA) [J].
Hill, Suvimol Chirathivat ;
Namde, Madjimbaye ;
Dwyer, Andrew ;
Poznanski, Andrew ;
Canna, Scott ;
Goldbach-Mansky, Raphaela .
PEDIATRIC RADIOLOGY, 2007, 37 (02) :145-152
[36]   Efficacy and safety of rilonacept (Interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes [J].
Hoffman, Hal M. ;
Throne, Martin L. ;
Amar, N. J. ;
Sebai, Mohamed ;
Kivitz, Alan J. ;
Kavanaugh, Arthur ;
Weinstein, Steven P. ;
Belomestnov, Pavel ;
Yancopoulos, George D. ;
Stahl, Neil ;
Mellis, Scott J. .
ARTHRITIS AND RHEUMATISM, 2008, 58 (08) :2443-2452
[37]   Long-Term Efficacy and Safety Profile of Rilonacept in the Treatment of Cryopryin-Associated Periodic Syndromes: Results of a 72-Week Open-Label Extension Study [J].
Hoffman, Hal M. ;
Throne, Martin L. ;
Amar, Niran J. ;
Cartwright, Robert C. ;
Kivitz, Alan J. ;
Soo, Yuhwen ;
Weinstein, Steven P. .
CLINICAL THERAPEUTICS, 2012, 34 (10) :2091-2103
[38]   Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist [J].
Hoffman, HM ;
Rosengren, S ;
Boyle, DL ;
Cho, JY ;
Nayar, J ;
Mueller, JL ;
Anderson, JP ;
Wanderer, AA ;
Firestein, GS .
LANCET, 2004, 364 (9447) :1779-1785
[39]   Fine structure mapping of CIAS1:: identification of an ancestral haplotype and a common FCAS mutation, L353P [J].
Hoffman, HM ;
Gregory, SG ;
Mueller, JL ;
Tresierras, M ;
Broide, DH ;
Wanderer, AA ;
Kolodner, RD .
HUMAN GENETICS, 2003, 112 (02) :209-216
[40]   Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever [J].
Hoffman, HM ;
Wanderer, AA ;
Broide, DH .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2001, 108 (04) :615-620
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