When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders

被引：38

作者：

Sprenkeler, Evelien G. G. ^{[1
,2
]}

Webbers, Steven D. S. ^{[1
,2
]}

Kuijpers, Taco W. ^{[1
,2
]}

机构：

[1] Univ Amsterdam, Amsterdam Univ Med Ctr AUMC, Sanquin Res, Dept Blood Cell Res, Plesmanlaan 125, NL-1066 CX Amsterdam, Netherlands

[2] Univ Amsterdam, AUMC, Emma Childrens Hosp, Dept Pediat Immunol Rheumatol & Infect Dis, Amsterdam, Netherlands

来源：

JOURNAL OF INNATE IMMUNITY | 2021年 / 13卷 / 01期

基金：

欧盟地平线“2020”;

关键词：

Actin cytoskeleton; Primary immunodeficiency; Neutrophils; Immune cells; WISKOTT-ALDRICH-SYNDROME; LEUKOCYTE ADHESION DEFICIENCY; LYMPHOCYTE-SPECIFIC PROTEIN-1; GDP-DISSOCIATION INHIBITOR; STEM-CELL TRANSPLANTATION; X-LINKED NEUTROPENIA; BINDING-PROTEIN; ARP2/3; COMPLEX; CALDAG-GEFI; VINCULIN-BINDING;

D O I：

10.1159/000509717

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

An increasing number of primary immunodeficiencies (PIDs) have been identified over the last decade, which are caused by deleterious mutations in genes encoding for proteins involved in actin cytoskeleton regulation. These mutations primarily affect hematopoietic cells and lead to defective function of immune cells, such as impaired motility, signaling, proliferative capacity, and defective antimicrobial host defense. Here, we review several of these immunological "actinopathies" and cover both clinical aspects, as well as cellular mechanisms of these PIDs. We focus in particular on the effect of these mutations on human neutrophil function.

引用

页码：3 / 25

页数：23

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