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

H. Takada, A. Nomura, M. Ishimura, M. Ichiyama, S. Ohga, T. Hara

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16 Citations (Scopus)

Abstract

Takada H, Nomura A, Ishimura M, Ichiyama M, Ohga S, Hara T. NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients.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.

Original languageEnglish
Pages (from-to)575-579
Number of pages5
JournalClinical Genetics
Volume78
Issue number6
DOIs
Publication statusPublished - Dec 2010

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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