Cryopyrin 相關週期性症候群 (cryopyrin-associated periodic syndrome, CAPS) 是一罕見的遺傳性自體發炎疾病，源自體內製造核苷酸結合及寡聚化結構域多白胺酸重複與比林區塊3 蛋白質 (nucleotidebinding oligomerization domain, leucine rich repeat and pyrin domain containing 3, NLRP3) (cryopyrin) 的編碼基因NLRP3 發生突變，導致後續NLRP3 發炎體過度活化，促使介白素-1β (interleukin-1β, IL-1β) 過量產生，引起全身性發炎反應，影響生活品質及造成長期嚴重併發症。因此，直接阻斷IL-1β作用，可預防及緩解相關發炎症狀，目前美國食品藥品管理局 (U.S. Foods and Drugs Administration, FDA) 核准的三個藥品 (anakinra、canakinumab 和rilonacept)，在控制CAPS 的全身性發炎上具持續療效且耐受性良好。本文將介紹CAPS 的症狀、診斷及目前治療藥品。

Cryopyrin-associated periodic syndromes (CAPS) are rare inherited autoinflammatory diseases. CAPS is caused by mutations in the nucleotidebinding oligomerization domain, leucine rich repeat and pyrin domain containing 3 (NLRP3) gene encoding the NLRP3 protein (cryopyrin). Cryopyrin mutations activate the inflammasome which leads to excessive production of interleukin-1β (IL-1β). CAPS manifests as systemic inflammation, which compromises the quality of life and leads to long-term serious complications. Therapies directly blocking IL-1β are effective in preventing and alleviating inflammation symptoms. There are three approved agents in CAPS by U.S. Foods and Drugs Administration (FDA): anakinra, canakinumab, and rilonacept. All these drugs have sustained efficacy in controlling systemic inflammation with good tolerability. The objective of this article is to review the symptoms, diagnosis, and currently used drugs for CAPS.