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

Research output: Contribution to journalArticle

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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 1 2010

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Mutation
X Chromosome Inactivation
Essential Genes
Mouth Mucosa
Intestinal Mucosa
Lipopolysaccharides
Monocytes
Blood Cells
Tumor Necrosis Factor-alpha
Mothers
Inflammation
Gene Expression

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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

In: Clinical Genetics, Vol. 78, No. 6, 01.12.2010, p. 575-579.

Research output: Contribution to journalArticle

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. In: Clinical Genetics. 2010 ; Vol. 78, No. 6. pp. 575-579.
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