Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency
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.
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2021
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oai:doaj.org-article:bc153bd94dab48289d8e89f5cfa520022021-11-28T12:33:27ZHeterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency10.1038/s41467-021-27085-y2041-1723https://doaj.org/article/bc153bd94dab48289d8e89f5cfa520022021-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-27085-yhttps://doaj.org/toc/2041-1723Genetic 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.Nobuo KanazawaHiroaki HemmiNoriko KinjoHidenori OhnishiJun HamazakiHiroyuki MishimaAkira KinoshitaTsunehiro MizushimaSatoru HamadaKazuya HamadaNorio KawamotoSaori KadowakiYoshitaka HondaKazushi IzawaRyuta NishikomoriMiyuki TsumuraYusuke YamashitaShinobu TamuraTakashi OrimoToshiya OzasaTakashi KatoIzumi SasakiYuri Fukuda-OhtaNaoko Wakaki-NishiyamaYutaka InabaKayo KunimotoSatoshi OkadaTakeshi TaketaniKoichi NakanishiShigeo MurataKoh-ichiro YoshiuraTsuneyasu KaishoNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-11 (2021) |
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DOAJ |
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DOAJ |
| language |
EN |
| topic |
Science Q |
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Science Q 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 Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Nobuo Kanazawa |
| title |
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency |
| title_short |
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency |
| title_full |
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency |
| title_fullStr |
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency |
| title_full_unstemmed |
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency |
| title_sort |
heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/bc153bd94dab48289d8e89f5cfa52002 |
| work_keys_str_mv |
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