Cytotoxic (CD8) T-cells and natural killer (NK) cells have a significant immune function role. The
ongoing stimulation of immunity and the excessive release of proinflammatory cytokines observed
in pediatric patients with Gaucher disease (GD) can affect immune cells. Few studies have looked
at the proportion of cytotoxic CD8 T-cells and their subsets in children with GD. A prospective
case–control study was performed involving twenty pediatric patients with type 1 GD and twenty
healthy age-matched controls. All patients received regular enzyme replacement therapy (ERT) for
at least 6 months before the study. Complete blood count and flow cytometric analyses of CD8 T,
Tc1, Tc2, NK, and NK T-cells were performed. GD patients showed significantly increased of CD8 T,
Tc1 and significantly decreased NK cells frequencies when compared to healthy controls. However,
no significant difference in Tc2 and NK T-cells was found between the studied groups. GD patients on
regular ERT have increased CD8+ T-cell frequencies, predominantly Tc1, together with a reduction in
NK cells than in healthy controls. These crucial immunological changes may contribute to some extent
to the pathogenesis and the progression of GD.