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.
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Khameneh, H., Mortellaro, A. NLRC4 gets out of control. Nat Genet 46, 1048–1049 (2014). https://doi.org/10.1038/ng.3100
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DOI: https://doi.org/10.1038/ng.3100
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