Singapore Immunology Network (SIgN), Agency for Science, Technology and Research (A*STAR), Singapore.
Nat Genet. 2014 Oct;46(10):1048-9. doi: 10.1038/ng.3100.
The NLRC4 inflammasome mediates the rapid release of proinflammatory cytokines in response to various microbial stimuli, but its role in the pathology of human diseases remains unknown. Two new studies now report gain-of-function mutations in the NLRC4 gene that cosegregate with distinct autoinflammatory syndromes in affected families.
NLRC4 炎症小体介导了对各种微生物刺激的快速释放促炎细胞因子,但它在人类疾病的病理学中的作用尚不清楚。两项新的研究现在报告了 NLRC4 基因的获得性功能突变,这些突变与受影响家族中的不同自身炎症综合征共分离。