RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency

被引：81

作者：

Alkhairy, Omar K. ^{[1
,2
,3
,4
]}

Rezaei, Nima ^{[5
,6
,7
]}

Graham, Robert R. ^{[8
]}

Abolhassani, Hassan ^{[1
,2
,3
,5
]}

Borte, Stephan ^{[1
,2
,3
,9
]}

Hultenby, Kjell

Wu, Chenglin ^{[1
,2
,3
]}

Aghamohammadi, Asghar ^{[5
]}

Williams, David A. ^{[10
,11
]}

Behrens, Timothy W. ^{[8
]}

Hammarstrom, Lennart ^{[1
,2
,3
]}

Pan-Hammarstrom, Qiang ^{[1
,2
,3
]}

机构：

[1] Karolinska Inst, Div Clin Immunol & Transfus Med, Stockholm, Sweden

[2] Karolinska Inst, Clin Res Ctr, Dept Lab Med, Stockholm, Sweden

[3] Karolinska Univ Hosp Huddinge, Stockholm, Sweden

[4] King Abdul Aziz Med City, Dept Pathol & Lab Med, Riyadh, Saudi Arabia

[5] Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Pediat Ctr Excellence, Tehran, Iran

[6] Univ Tehran Med Sci, Dept Immunol, Sch Med, Tehran, Iran

[7] Univ Tehran Med Sci, Mol Immunol Res Ctr, Tehran, Iran

[8] Genentech Inc, Immunol Biomarkers Grp, San Francisco, CA 94080 USA

[9] Univ Leipzig, Translat Ctr Regenerat Med TRM, D-04109 Leipzig, Germany

[10] Harvard Univ, Sch Med, Childrens Hosp Boston, Div Hematol Oncol, Boston, MA USA

[11] Harvard Univ, Sch Med, Dana Farber Canc Inst, Boston, MA 02115 USA

来源：

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2015年 / 135卷 / 05期

基金：

欧洲研究理事会;

关键词：

RHO GTPASE; T-CELLS; EXPRESSION;

D O I：

10.1016/j.jaci.2014.10.039

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

[No abstract available]

引用

页码：1380 / +

页数：10

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