Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP

被引：38

作者：

Tangye, Stuart G. ^{[1
,2
]}

Bucciol, Giorgia ^{[3
,4
]}

Casas-Martin, Jose ^{[3
]}

Pillay, Bethany ^{[1
,2
]}

Ma, Cindy S. ^{[1
,2
]}

Moens, Leen ^{[3
]}

Meyts, Isabelle ^{[3
,4
]}

机构：

[1] Garvan Inst Med Res, Immunol Div, Sydney, NSW, Australia

[2] UNSW Sydney, St Vincents Clin Sch, Fac Med, Sydney, NSW, Australia

[3] Katholieke Univ Leuven, Lab Inborn Errors Immun, Dept Microbiol & Immunol, Leuven, Belgium

[4] Univ Hosp Leuven, Dept Pediat, Leuven, Belgium

来源：

IMMUNOLOGY AND CELL BIOLOGY | 2019年 / 97卷 / 04期

基金：

英国医学研究理事会;

关键词：

Coronin; 1A; cytoskeleton; DOCK2-DOCK8; primary immunodeficiency; RAC2; T-CELL SURVIVAL; COMBINED IMMUNODEFICIENCY; AUTOINFLAMMATORY DISEASE; SUPEROXIDE-PRODUCTION; DOCK2; DEFICIENCY; ARP2/3; COMPLEX; THYMIC EGRESS; RAC ACTIVATOR; RHO GTPASES; CORONIN; 1A;

D O I：

10.1111/imcb.12243

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Inherited defects in genes encoding for proteins that are involved in the assembly and dynamics of the actin skeleton have increasingly been identified in patients presenting with primary immunodeficiencies. In this review, we summarize a subset of the recently described conditions, emphasizing the clinical features as well as the immunophenotype and pathophysiology.

引用

页码：389 / 402

页数：14

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