Enhanced interleukin-1β and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome

Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome is a severe inflammatory disease that recently was associated with mutations in CIAS1. It was hypothesized that these mutations may lead to enhanced inflammatory responses. Herein, we provide evidence that inflammation in the CINCA syndrome is characterized by enhanced interleukin-1beta (IL-1beta) and IL-18 release upon stimulation of blood cells and show that this release is caspase I dependent.