Inherited CARD9 Deficiency Due to a Founder Effect in East Asia

作者全名：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

作者地址：[Tomomasa, Dan; Morio, Tomohiro] TMDU, Dept Pediat & Dev Biol, Tokyo, Japan; [Lee, Beom Hee; Lee, Jina] Univ Ulsan, Coll Med, Ctr Med Genet, Asan Med Ctr Childrens Hosp,Dept Pediat, 88 Olympic Ro 43 Gil, Seoul 05505, South Korea; [Hirata, Yuki] Shonan Fujisawa Tokushukai Hosp, Dept Opthalmol, Fujisawa, Kanagawa, Japan; [Inoue, Yuzaburo] Chiba Univ, Grad Sch Med, Dept Gen Med Sci, Chiba, Japan; [Majima, Hidetaka; Watanabe, Akira; Kamei, Katsuhiko] Chiba Univ, Med Mycol Res Ctr, Chiba, Japan; [Imanaka, Yusuke] Hiroshima Univ Hosp, Dept Pediat, Hiroshima, Japan; [Asano, Takaki; Okada, Satoshi] Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan; [Asano, Takaki] Hiroshima Univ, Res Inst Radiat Biol & Med, Dept Genet & Cell Biol, Hiroshima, Japan; [Katakami, Takashi; Kageyama, Yasufumi] Hyogo Prefectural Amagasaki Gen Med Ctr, Dept Neurol, Amagasaki, Hyogo, Japan; [Hijikata, Atsushi] Tokyo Univ Pharm & Life Sci, Sch Life Sci, Tokyo, Japan; [Worakitchanon, Wittawin; Fujimoto, Akihiro] Univ Tokyo, Sch Int Hlth, Grad Sch Med, Dept Human Genet, Tokyo, Japan; [Yang, Xi] Chongqing Med Univ, Dept Rheumatol & Immunol, Childrens Hosp, Chongqing, Peoples R China; [Wang, Xiaowen] Peking Univ First Hosp, Dept Dermatol, Beijing, Peoples R China; [Seo, Go Hun] 3billion Inc, Seoul, South Korea; [Casanova, Jean-Laurent; Puel, Anne] Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM UMR 1163, F-75015 Paris, France; [Casanova, Jean-Laurent; Puel, Anne] Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA; [Casanova, Jean-Laurent; Puel, Anne] Univ Paris Cite, Imagine Inst, F-75015 Paris, France; [Kanegane, Hirokazu] TMDU, Grad Sch Med & Dent Sci, Dept Child Hlth & Dev, 1-5-45 Yushima,Bunkyo Ku, Tokyo 1138519, Japan

通信作者：Lee, BH (通讯作者)，Univ Ulsan, Coll Med, Ctr Med Genet, Asan Med Ctr Childrens Hosp,Dept Pediat, 88 Olympic Ro 43 Gil, Seoul 05505, South Korea.; Kanegane, H (通讯作者)，TMDU, Grad Sch Med & Dent Sci, Dept Child Hlth & Dev, 1-5-45 Yushima,Bunkyo Ku, Tokyo 1138519, Japan.

来源：JOURNAL OF CLINICAL IMMUNOLOGY

ESI学科分类：IMMUNOLOGY

WOS号：WOS:001227231000001

JCR分区：Q1

影响因子：7.2

年份：2024

卷号：44

期号：5

开始页：　

结束页：　

文献类型：Article

关键词：CARD9 deficiency; c.820dup variant; founder effect; East Asia; fungal diseases; Candida spp.; Phialophora spp.; phaeohyphomycosis; central nervous system

摘要：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 heterozygous (three patients) state. The other CARD9 alleles were c.104G > A, c.1534C > T and c.1558del. The c.820dup CARD9 variant has thus been reported, in the homozygous or heterozygous state, in patients originating from China, Japan, or South Korea. The Japanese, Korean, and Chinese patients share a 10 Kb haplotype encompassing the c.820dup CARD9 variant. This variant thus originates from a common ancestor, estimated to have lived less than 4,000 years ago. While phaeohyphomycosis caused by Phialophora spp. was common in the Chinese patients, none of the five patients in our study displayed Phialophora spp.-induced disease. This difference between Chinese and our patients probably results from environmental factors. (161/250).

基金机构：MEXT/JSPS KAKENHI

基金资助正文：We thank the patients and their families for agreeing to participate in this study. We also thank Naomi Terada, Maki Yamazaki, and Yin Yi for their technical assistance and Ken-ichi Shinoda in National Museum of Nature and Science for critical discussion.