NEMO mutation as a cause of familial occurrence of Behcet's disease in female patients

Behcet's disease is a chronic, relapsing, multisystem inflammatory disease of unknown etiology. Nuclear factor kappa B (NF-kappa B) essential modulator (NEMO) that is required for the activation of NF-kappa B plays an important role in inflammation. To investigate the role of NEMO in the pathogenesis of Behc, et's disease, we analyzed NEMO gene and its expression pattern in tissues in a family with Behc, et's disease. We found a heterozygous mutation (1217A>T, D406V) in a 6-year-old girl and her mother. Skewed X-chromosome inactivation was not observed in the peripheral blood mononuclear cells as well as in oral and intestinal mucosa of the patients. Accordingly, there was a significant proportion of peripheral blood monocytes that did not produce sufficient intracellular tumor necrosis factor-alpha with the stimulation of lipopolysaccharide. Heterozygous NEMO mutation is a cause of familial occurrence of Behc, et's disease in female patients.