CAPS and NLRP3

被引：180

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

页码：277 / 286

页数：10

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