In this study, CDD was associated with an increase in inflammatory cytokines (MPO and IL-17), a disruption of gastrointestinal hormones (MTL and GAS), reduced levels of tight junction proteins (OCLN and ZO1), and an imbalance in the Th1/Th2 and Th17/Treg cell ratios. The gene discussed is OCLN; the disease is craniodiaphyseal dysplasia.