A novel gain-of-function missense variant in PLCG2 associated with autoinflammation and hypergammaglobulinaemia.

Abstract

Journal Article Accepted manuscript A novel gain-of-function missense variant in PLCG2 associated with autoinflammation and hypergammaglobulinemia Get access Takuji Itakura, Takuji Itakura Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Search for other works by this author on: Oxford Academic PubMed Google Scholar Hirokazu Sasaki, Hirokazu Sasaki Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Correspondence to: Hirokazu Sasaki, Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan. E-mail: sasaki.rheu@tmd.ac.jp https://orcid.org/0009-0005-2178-6457 Search for other works by this author on: Oxford Academic PubMed Google Scholar Tadashi Hosoya, Tadashi Hosoya Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Search for other works by this author on: Oxford Academic PubMed Google Scholar Taiki Yamaguchi, Taiki Yamaguchi Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Search for other works by this author on: Oxford Academic PubMed Google Scholar Erika Mimori, Erika Mimori Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Search for other works by this author on: Oxford Academic PubMed Google Scholar Yukino Saimon, Yukino Saimon Faculty of Medicine, Tokyo Medical and Dental University Search for other works by this author on: Oxford Academic PubMed Google Scholar Hideyuki Iwai, Hideyuki Iwai Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Search for other works by this author on: Oxford Academic PubMed Google Scholar Natsuka Umezawa, Natsuka Umezawa Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Search for other works by this author on: Oxford Academic PubMed Google Scholar Daisuke Kawata, Daisuke Kawata Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Search for other works by this author on: Oxford Academic PubMed Google Scholar Naoki Kimura, Naoki Kimura Department of Lifetime Clinical Immunology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Search for other works by this author on: Oxford Academic PubMed Google Scholar ... Show more Morito Kurata, Morito Kurata Department of Comprehensive Pathology, Tokyo Medical and Dental University Hospital https://orcid.org/0000-0002-1242-6709 Search for other works by this author on: Oxford Academic PubMed Google Scholar Masaki Shimizu, Masaki Shimizu Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Shinsuke Yasuda Shinsuke Yasuda Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University Search for other works by this author on: Oxford Academic PubMed Google Scholar Rheumatology, kead193, https://doi.org/10.1093/rheumatology/kead193 Published: 24 April 2023 Article history Received: 22 March 2023 Revision received: 14 April 2023 Accepted: 19 April 2023 Published: 24 April 2023