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

被引：1
|
作者：
Itakura, Takuji [1 ]
Sasaki, Hirokazu [1 ,6 ]
Hosoya, Tadashi [1 ]
Yamaguchi, Taiki [1 ]
Mimori, Erika [1 ]
Saimon, Yukino [2 ]
Iwai, Hideyuki [1 ]
Umezawa, Natsuka [1 ]
Kawata, Daisuke [1 ]
Kimura, Naoki [3 ]
Kurata, Morito [4 ]
Shimizu, Masaki [5 ]
Yasuda, Shinsuke [1 ]
机构：
[1] Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, Japan
[2] Tokyo Med & Dent Univ, Fac Med, Dept Rheumatol, Tokyo, Japan
[3] Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Lifetime Clin Immunol, Tokyo, Japan
[4] Tokyo Med & Dent Univ Hosp, Dept Comprehens Pathol, Tokyo, Japan
[5] Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Pediat & Dev Biol, Tokyo, Japan
[6] Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, 1-5-45 Yushima,Bunkyo Ku, Tokyo 1138519, Japan
来源：
RHEUMATOLOGY | 2023年 / 62卷 / 11期
关键词：
IMMUNODEFICIENCY; AUTOIMMUNITY; MUTATION;
D O I：
10.1093/rheumatology/kead193
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：e319 / e321
页数：3
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