title: NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients.
abstract: Behçet's disease is a chronic, relapsing, multisystem inflammatory disease of unknown etiology. Nuclear factor κB (NF-κB) essential modulator (NEMO) that is required for the activation of NF-κB plays an important role in inflammation. To investigate the role of NEMO in the pathogenesis of Behçet's disease, we analyzed NEMO gene and its expression pattern in tissues in a family with Behçet'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-α with the stimulation of lipopolysaccharide. Heterozygous NEMO mutation is a cause of familial occurrence of Behçet's disease in female patients.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. takadah@pediatr.med.kyushu-u.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Takada
authors.forename: A
authors.initials: A
authors.lastname: Nomura
authors.forename: M
authors.initials: M
authors.lastname: Ishimura
authors.forename: M
authors.initials: M
authors.lastname: Ichiyama
authors.forename: S
authors.initials: S
authors.lastname: Ohga
authors.forename: T
authors.initials: T
authors.lastname: Hara
mesh_terms: D000328:Adult; D001483:Base Sequence; D001528:Behcet Syndrome / Q000235:genetics*; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D049951:X Chromosome Inactivation / Q000235:genetics
chemical_list: C491731:IKBKG protein, human; D051550:I-kappa B Kinase