Article
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.
Journal of clinical immunology - 17 May 2024
Tomomasa Dan, Lee Beom Hee, Hirata Yuki, Inoue Yuzaburo, Majima Hidetaka, Imanaka Yusuke, Asano Takaki, Katakami Takashi, Lee Jina, Hijikata Atsushi, Worakitchanon Wittawin, Yang Xi, Wang Xiaowen, Watanabe Akira, Kamei Katsuhiko, Kageyama Yasufumi, Seo Go Hun, Fujimoto Akihiro, Casanova Jean-Laurent, Puel Anne, Morio Tomohiro, Okada Satoshi, Kanegane Hirokazu
Abstract excerpt
Autosomal recessive CARD9 deficiency can underly deep and superficial fungal diseases. We identified two Japanese patients, suffering from superficial and invasive Candida albicans diseases, carrying biallelic variants of CARD9. Both patients, in addition to another Japanese and two Korean patients who were previously reported, carried the c.820dup CARD9 variant, either in the homozygous (two patients) or...
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