Expression of intracellular cytokines in twins with intractable epilepsy associated with lissencephaly

抄録

We examined immune system dysfunction in a pair of twins with intractable epilepsy and different developmental outcomes; twin A showed severe developmental delay whereas twin B showed moderate developmental delay. We profiled the intracellular cytokines of peripheral blood mono-nuclear cells collected from the twins. Compared to twin B, twin A had a higher percentage of in-terleukin (IL)-1β–, IL-1 receptor antagonist–, and tumor necrosis factor-α–positive CD14+ mono-cytes and lower levels of these cytokines in the plasma. Twin A had more interferon (IFN)-γ–positive cells and lower plasma cytokine level of IFN-γ than twin B. Furthermore, twin A showed higher level of IL-1β than twin B. We found no correlation between the ratio of positive cells and the plasma level of any given cytokine in the affected patients. The twin presenting with a severe developmental delay showed higher level of IL-1β cytokine than the twin with a moderate delay.