期刊
JOURNAL OF CLINICAL IMMUNOLOGY
卷 39, 期 3, 页码 277-286出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-019-00638-z
关键词
Familial cold autoinflammatory syndrome; Muckle-Wells syndrome; neonatal onset multi-system inflammatory disease; inflammasome; cryopyrin-associated periodic syndromes
类别
资金
- NIH [grants-RO1 HL126703, KD113592, HL140898]
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.
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