Article

Functional diversity of <i>NLRP3</i> gain-of-function mutants associated with CAPS autoinflammation

2023-09-22

Abstract excerpt

NLRP3-associated autoinflammatory disease (NLRP3-AID or CAPS) is an heterogenous group of monogenic autoinflammations associated with NLRP3 gain-of-function mutations. The poor functional characterization of most NLRP3 variants is a barrier to diagnosis although patients can be efficiently treated with anti-IL-1 approaches. In addition, while NLRP3 inflammasome is controlled by coordinated priming and activation...

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Literature Corpus work: 08ae51d1-85aa-53d6-8345-7cbc5c6fb6b8
DOI: 10.1101/2023.09.22.558949

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