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Rare mutations in NLRP3 and NLRP12 associated with familial cold autoinflammatory syndrome: two Chinese pedigrees.

Clinical rheumatology - 1 Nov 2022

Chen Shirui, Li Zhen, Hu Xia, Zhang Hui, Chen Weiwei, Xu Qiongqiong, Tang Lili, Ge Huiyao, Zhen Qi, Yong Liang, Yu Yafen, Cao Lu, Zhang Ruixue, Hao Yong, Shi Jihai, Sun Liangdan

Abstract excerpt

Familial cold autoinflammatory syndrome (FCAS) is the mildest subtype of cryopyrin-associated periodic syndrome (CAPS) and is a rare inherited systemic autoinflammatory disease (SAID). CAPS is the consequence of a rare group of genetic disorders that are mostly reported in European and American populations, but scarcely reported in Chinese populations. NLRP3, NLRP12, PLCG2, and NLRC4 are known pathogenic genes...

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PMID: 35852776
DOI: 10.1007/s10067-022-06292-y

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