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Article

Rapamycin as an Adjunctive Therapy for NLRC4 Associated Macrophage Activation Syndrome

24 Sept 2018

Abstract excerpt

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...

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PMID: 30319625
DOI: 10.3389/fimmu.2018.02162

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