TY - JOUR
T1 - When Actin is Not Actin' like It Should: A New Category of Distinct Primary Immunodeficiency Disorders
AU - Sprenkeler, Evelien G. G.
AU - Webbers, Steven D. S.
AU - Kuijpers, Taco W.
N1 - Funding Information: The authors were partially funded by the European Union’s Horizon 2020 research and innovation programme under Grant Agreement No. 668303, Program on Prevention Outcomes Practices Grant PPOP-12-001, the Center of Immunodeficiencies Amsterdam Grant CIDA-2015, and the E-Rare ZonMW grant #90030376506. Funding Information: The authors were partially funded by the European Union s Horizon 2020 research and innovation programme under Grant Agreement No. 668303, Program on Prevention Outcomes Practices Grant PPOP-12-001, the Center of Immunodeficiencies Amsterdam Grant CIDA-2015, and the E-Rare ZonMW grant #90030376506. Publisher Copyright: © 2020 The Author(s). Published by S. Karger AG, Basel.
PY - 2021/1
Y1 - 2021/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85091115617&partnerID=8YFLogxK
U2 - https://doi.org/10.1159/000509717
DO - https://doi.org/10.1159/000509717
M3 - Review article
C2 - 32846417
SN - 1662-811X
VL - 13
SP - 3
EP - 25
JO - Journal of innate immunity
JF - Journal of innate immunity
IS - 1
ER -