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Cited by 54Immunodeficiency and Autoimmune DisordersBlood disorders and treatmentsNeutrophil, Myeloperoxidase and Oxidative Mechanisms

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

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Sprenkeler, Evelien G.G., Webbers, Steven D.S., Kuijpers, Taco W.·2021·Journal of Innate Immunity
DOI 10.1159/000509717PMC PMC7879252
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Abstract

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.

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  • Cells of the innate and adaptive immune systems depend on proper actin dynamics to control effective immune responses.

    “Cells of the innate and adaptive immune systems depend on proper actin dynamics to control effective responses, which is highlighted by inborn errors of immunity (IEI) affecting actin networks, known as actinopathies (reviewed in [3–7]).”

    From HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions (2022) · cites this paper as [4]

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Authors
Sprenkeler, E. G. G., Webbers, S. D. S., & Kuijpers, T. W.
Affiliations
Sanquin (NL)
ORCID
Venue
Journal of Innate Immunity
Publisher
S. Karger AG
Published
2020-08-26
Volume
13
Issue
1
Pages
3-25
ISSN
  • 1662-811X (ISSN-L)
  • 1662-8128
DOI
10.1159/000509717
PMC
PMC7879252
OpenAlex
W3081045667
Cited by
54
References
2
Citations by year
2026: 2 · 2025: 14 · 2024: 8 · 2023: 9 · 2022: 12 · 2021: 9
FWCI
0.75
Type
journal article
Language
en
Open access
Licence
Locations
  • Journal of Innate Immunity (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • Pure Amsterdam UMC (submittedVersion, cc-by)
  • Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
  • E-Rare
  • European Commission (668303, HORIZON2020)
  • ZonMw (90030376506)
Topics
  • Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
  • Life Sciences › Immunology and Microbiology › Immunology › Neutrophil, Myeloperoxidase and Oxidative Mechanisms
Keywords
primary immunodeficiency, actinopathy, actin cytoskeleton regulation, actin mutations, neutrophil function, neutrophil motility, neutrophil proliferation, antimicrobial host defense, hematopoietic cells, innate immunity
MeSH terms
Primary Immunodeficiency Diseases, Animals, Cell Movement, Humans, Immunity, Innate, Actin Cytoskeleton, Mutation, Neutrophils, Signal Transduction, Cell Proliferation

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