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NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients
Author(s) -
Takada H,
Nomura A,
Ishimura M,
Ichiyama M,
Ohga S,
Hara T
Publication year - 2010
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2010.01432.x
Subject(s) - behcet's disease , pathogenesis , medicine , peripheral blood mononuclear cell , mutation , immunology , disease , tumor necrosis factor alpha , etiology , inflammation , pathology , biology , gene , genetics , in vitro
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.