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

页码：e319 / e321

页数：3

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