Journal of clinical immunology · 2024
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.
Клинический случайПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАСтатьяНазвание и аннотация: Перевод пока не подготовлен
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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
Аннотация
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).