Inherited CARD9 Deficiency Due to a Founder Effect in East Asia

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...

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Veröffentlicht in:	Journal of clinical immunology 2024-07, Vol.44 (5), p.121-121, Article 121
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alleles ancestry Antibodies Asia, Eastern Asian People - genetics Biomedical and Life Sciences Biomedicine Candida albicans Candida albicans - genetics Candidiasis, Chronic Mucocutaneous - diagnosis Candidiasis, Chronic Mucocutaneous - genetics CARD Signaling Adaptor Proteins - deficiency CARD Signaling Adaptor Proteins - genetics East Asian People Environmental factors Female Flow cytometry Founder Effect fungi Genomes Haplotypes heterozygosity homozygosity Humans Immunology Infectious Diseases Internal Medicine Japan Male Medical Microbiology Mutagenesis Mutation - genetics Nervous system Original Article Pedigree Phaeohyphomycosis Phialophora Polymerase chain reaction Proteins South Korea
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