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

Authors: Takada, H  Nomura, A  Ishimura, M  Ichiyama, M  Ohga, S  Hara, T 
Citation: Takada H, etal., Clin Genet. 2010 Dec;78(6):575-9. doi: 10.1111/j.1399-0004.2010.01432.x.
Pubmed: (View Article at PubMed) PMID:20412081
DOI: Full-text: DOI:10.1111/j.1399-0004.2010.01432.x

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.

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CRRD Object Information
CRRD ID: 12791269
Created: 2017-03-01
Species: All species
Last Modified: 2017-03-01
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.