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Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.
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.
Afiliación
  • Tomomasa D; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
  • Lee BH; Department of Pediatrics, Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88 Olympic-Ro 43-Gil, Songpa-Gu, Seoul, 05505, South Korea. bhlee@amc.seoul.kr.
  • Hirata Y; Department of Opthalmology, Shonan Fujisawa Tokushukai Hospital, Kanagawa, Japan.
  • Inoue Y; Department of General Medical Science, Graduate School of Medicine, Chiba University, Chiba, Japan.
  • Majima H; Medical Mycology Research Center, Chiba University, Chiba, Japan.
  • Imanaka Y; Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.
  • Asano T; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Katakami T; Department of Genetics and Cell Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan.
  • Lee J; Department of Neurology, Hyogo Prefectural Amagasaki General Medical Center, Hyogo, Japan.
  • Hijikata A; Department of Pediatrics, Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88 Olympic-Ro 43-Gil, Songpa-Gu, Seoul, 05505, South Korea.
  • Worakitchanon W; School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan.
  • Yang X; Department of Human Genetics, School of International Health, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Wang X; Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing, China.
  • Watanabe A; Department of Dermatology, Peking University First Hospital, Beijing, China.
  • Kamei K; Medical Mycology Research Center, Chiba University, Chiba, Japan.
  • Kageyama Y; Medical Mycology Research Center, Chiba University, Chiba, Japan.
  • Seo GH; Department of Neurology, Hyogo Prefectural Amagasaki General Medical Center, Hyogo, Japan.
  • Fujimoto A; 3Billion Inc, Seoul, South Korea.
  • Casanova JL; Department of Human Genetics, School of International Health, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, UMR 1163, INSERM, Necker Hospital for Sick Children, 75015, Paris, France.
  • Morio T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065, USA.
  • Okada S; University Paris Cité, Imagine Institute, 75015, Paris, France.
  • Kanegane H; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, UMR 1163, INSERM, Necker Hospital for Sick Children, 75015, Paris, France.
J Clin Immunol ; 44(5): 121, 2024 May 17.
Article en En | MEDLINE | ID: mdl-38758287
ABSTRACT
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).
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Efecto Fundador / Proteínas Adaptadoras de Señalización CARD Límite: Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: J Clin Immunol Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Efecto Fundador / Proteínas Adaptadoras de Señalización CARD Límite: Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: J Clin Immunol Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Países Bajos