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• W2891968006 abstract "Gain of function (GOF) mutations affecting the inflammasome component NLRC4 are known to cause early-onset macrophage activation syndrome (MAS) and neonatal enterocolitis. Here we report a patient with a NLRC4 GOF mutation presenting with neonatal MAS efficiently treated with a combination of anakinra and rapamycin. Through in vitro studies, we show that rapamycin reduces both IL-1β and IL-18 secretion by the patient's phagocytic cells. The reduction of cytokine secretion is associated with a reduction of caspase-1 activation regardless of the pathogen- or danger-associated molecular patterns triggering the activation of the inflammasome. This study suggests that patients with inherited auto-inflammatory disorders could benefit from an adjunctive therapy with rapamycin." @default.
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• W2891968006 date "2018-09-24" @default.
• W2891968006 modified "2023-10-14" @default.
• W2891968006 title "Rapamycin as an Adjunctive Therapy for NLRC4 Associated Macrophage Activation Syndrome" @default.
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• W2891968006 doi "https://doi.org/10.3389/fimmu.2018.02162" @default.
• W2891968006 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6166634" @default.
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