Article
Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan.
Journal of clinical immunology - 1 Jun 2011
Hoshina Takayuki, Takada Hidetoshi, Sasaki-Mihara Yuka, Kusuhara Koichi, Ohshima Koichi, Okada Satoshi, Kobayashi Masao, Ohara Osamu, Hara Toshiro
Abstract excerpt
PURPOSE: The aim of this study is to investigate clinical characteristics and genetic backgrounds of Mendelian susceptibility to mycobacterial diseases (MSMD) in Japan. METHODS: Forty-six patients diagnosed as having MSMD were enrolled in this study. All patients were analyzed for the IFNGR1, IFNGR2, IL12B, IL12RB1, STAT1, and NEMO gene mutations known to be associated with MSMD. RESULTS: Six patients and one...
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