Nature Communications (Nov 2021)
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency
- Nobuo Kanazawa,
- Hiroaki Hemmi,
- Noriko Kinjo,
- Hidenori Ohnishi,
- Jun Hamazaki,
- Hiroyuki Mishima,
- Akira Kinoshita,
- Tsunehiro Mizushima,
- Satoru Hamada,
- Kazuya Hamada,
- Norio Kawamoto,
- Saori Kadowaki,
- Yoshitaka Honda,
- Kazushi Izawa,
- Ryuta Nishikomori,
- Miyuki Tsumura,
- Yusuke Yamashita,
- Shinobu Tamura,
- Takashi Orimo,
- Toshiya Ozasa,
- Takashi Kato,
- Izumi Sasaki,
- Yuri Fukuda-Ohta,
- Naoko Wakaki-Nishiyama,
- Yutaka Inaba,
- Kayo Kunimoto,
- Satoshi Okada,
- Takeshi Taketani,
- Koichi Nakanishi,
- Shigeo Murata,
- Koh-ichiro Yoshiura,
- Tsuneyasu Kaisho
Affiliations
- Nobuo Kanazawa
- Department of Dermatology, Wakayama Medical University
- Hiroaki Hemmi
- Department of Immunology, Institute of Advanced Medicine, Wakayama Medical University
- Noriko Kinjo
- Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus
- Hidenori Ohnishi
- Department of Pediatrics, Graduate School of Medicine, Gifu University
- Jun Hamazaki
- Laboratory of Protein Metabolism, Graduate School of Pharmaceutical Sciences, The University of Tokyo
- Hiroyuki Mishima
- Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University
- Akira Kinoshita
- Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University
- Tsunehiro Mizushima
- Graduate School of Science, University of Hyogo
- Satoru Hamada
- Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus
- Kazuya Hamada
- Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus
- Norio Kawamoto
- Department of Pediatrics, Graduate School of Medicine, Gifu University
- Saori Kadowaki
- Department of Pediatrics, Graduate School of Medicine, Gifu University
- Yoshitaka Honda
- Department of Pediatrics, Kyoto University Graduate School of Medicine
- Kazushi Izawa
- Department of Pediatrics, Kyoto University Graduate School of Medicine
- Ryuta Nishikomori
- Department of Pediatrics and Child Health, Kurume University School of Medicine
- Miyuki Tsumura
- Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences
- Yusuke Yamashita
- Department of Hematology/Oncology, Wakayama Medical University
- Shinobu Tamura
- Department of Hematology/Oncology, Wakayama Medical University
- Takashi Orimo
- Department of Immunology, Institute of Advanced Medicine, Wakayama Medical University
- Toshiya Ozasa
- Department of Immunology, Institute of Advanced Medicine, Wakayama Medical University
- Takashi Kato
- Department of Immunology, Institute of Advanced Medicine, Wakayama Medical University
- Izumi Sasaki
- Department of Immunology, Institute of Advanced Medicine, Wakayama Medical University
- Yuri Fukuda-Ohta
- Department of Immunology, Institute of Advanced Medicine, Wakayama Medical University
- Naoko Wakaki-Nishiyama
- Department of Immunology, Institute of Advanced Medicine, Wakayama Medical University
- Yutaka Inaba
- Department of Dermatology, Wakayama Medical University
- Kayo Kunimoto
- Department of Dermatology, Wakayama Medical University
- Satoshi Okada
- Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences
- Takeshi Taketani
- Department of Pediatrics, Shimane University Faculty of Medicine
- Koichi Nakanishi
- Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus
- Shigeo Murata
- Laboratory of Protein Metabolism, Graduate School of Pharmaceutical Sciences, The University of Tokyo
- Koh-ichiro Yoshiura
- Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University
- Tsuneyasu Kaisho
- Department of Immunology, Institute of Advanced Medicine, Wakayama Medical University
- DOI
- https://doi.org/10.1038/s41467-021-27085-y
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 11
Abstract
Genetic variants of proteasome subunit genes have been shown to associate with perturbed immune function. Here authors show that a heterozygous missense variant of the immunoproteasome subunit β-type 9 causes an autoinflammatory/immune deficiency syndrome in humans and in a mouse model.
