Article
Common Variable Immunodeficiency Caused by FANC Mutations.
Journal of clinical immunology - 1 Jul 2017
Sekinaka Yujin, Mitsuiki Noriko, Imai Kohsuke, Yabe Miharu, Yabe Hiromasa, Mitsui-Sekinaka Kanako, Honma Kenichi, Takagi Masatoshi, Arai Ayako, Yoshida Kenichi, Okuno Yusuke, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Muramatsu Hideki, Kojima Seiji, Hira Asuka, Takata Minoru, Ohara Osamu, Ogawa Seishi, Morio Tomohiro, Nonoyama Shigeaki
Abstract excerpt
Common variable immunodeficiency (CVID) is the most common adult-onset primary antibody deficiency disease due to various causative genes. Several genes, which are known to be the cause of different diseases, have recently been reported as the cause of CVID in patients by performing whole exome sequencing (WES) analysis. Here, we found FANC gene mutations as a cause of adult-onset CVID in two patients. B cells...
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