{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:55:03Z","timestamp":1791291303319,"version":"4.3.0"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,11,2]],"date-time":"2010-11-02T00:00:00Z","timestamp":1288656000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:p>Takada H, Nomura A, Ishimura M, Ichiyama M, Ohga S, Hara T. <jats:italic>NEMO<\/jats:italic> mutation as a cause of familial occurrence of Beh\u00e7et's disease in female patients.<\/jats:p><jats:p>Beh\u00e7et's disease is a chronic, relapsing, multisystem inflammatory disease of unknown etiology. Nuclear factor \u03baB (NF\u2010\u03baB) essential modulator (NEMO) that is required for the activation of NF\u2010\u03baB plays an important role in inflammation. To investigate the role of NEMO in the pathogenesis of Beh\u00e7et's disease, we analyzed <jats:italic>NEMO<\/jats:italic> gene and its expression pattern in tissues in a family with Beh\u00e7et's disease. We found a heterozygous mutation (1217A&gt; T, D406V) in a 6\u2010year\u2010old girl and her mother. Skewed X\u2010chromosome 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\u2010\u03b1 with the stimulation of lipopolysaccharide. Heterozygous <jats:italic>NEMO<\/jats:italic> mutation is a cause of familial occurrence of Beh\u00e7et's disease in female patients.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2010.01432.x","type":"journal-article","created":{"date-parts":[[2010,3,22]],"date-time":"2010-03-22T05:32:29Z","timestamp":1269235949000},"page":"575-579","source":"Crossref","is-referenced-by-count":37,"title":["<i>NEMO<\/i> mutation as a cause of familial occurrence of Beh\u00e7et's disease in female 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