Article
Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation.
Journal of clinical immunology - 1 Oct 2011
Imamura Masaru, Kawai Tomoki, Okada Satoshi, Izawa Kazushi, Takachi Takayuki, Iwabuchi Haruko, Yoshida Sakiko, Hosokai Ryosuke, Kanegane Hirokazu, Yamamoto Tatsuo, Umezu Hajime, Nishikomori Ryuta, Heike Toshio, Uchiyama Makoto, Imai Chihaya
Abstract excerpt
BACKGROUND: Nuclear factor-κB essential modulator (NEMO) deficiency is a developmental and immunological disorder. The genetic and phenotypic correlation has been described. METHODS: We report a unique clinical presentation and the identification of a novel missense mutation in the NEMO gene in a 3-year-old boy with bacillus Calmette-Guerin (BCG) infection. RESULTS: The patient presented with fever, cervical...
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