Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of innate immunity - 1 Jan 2021

Sprenkeler Evelien G G, Webbers Steven D S, Kuijpers Taco W

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Actin Cytoskeleton
Share to Cell Movement
Share to Cell Proliferation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Immunity, Innate

Share to Mutation

Share to Neutrophils

Share to Primary Immunodeficiency Diseases

Share to Signal Transduction

Source

Open in PubMed Open full text

Identifiers

PMID: 32846417
DOI: 10.1159/000509717
PMCID: PMC7879252

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

When Actin is Not Actin' Like It Should: A New Category of Distinct Primary Immunodeficiency Disorders.PMID 32846417Read ↗

Primary immunodeficiencies due to abnormalities of the actin cytoskeletonSemantic proximity Read ↗

Actin cytoskeletal defects in immunodeficiency.Semantic proximity Read ↗

Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIPSemantic proximity Read ↗

Peripheral eosinophilia in primary immunodeficiencies of actin dysregulation: A case series of Wiskott-Aldrich syndrome, CARMIL2 and DOCK8 deficiency and review of the literatureSemantic proximity Read ↗

Deciphering actin remodelling in immune cells through the prism of actin-related inborn errors of immunity.Semantic proximity Read ↗

HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions.Semantic proximity Read ↗

Molecular Mechanisms of Leukocyte Migration and Its Potential Targeting—Lessons Learned From MKL1/SRF-Related Primary Immunodeficiency DiseasesSemantic proximity Read ↗

Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.Semantic proximity Read ↗

The Actin Regulators Involved in the Function and Related Diseases of LymphocytesSemantic proximity Read ↗

The Wiskott-Aldrich Syndrome: The Actin Cytoskeleton and Immune Cell FunctionSemantic proximity Read ↗

The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function.Semantic proximity Read ↗

Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with ImmunodeficiencySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.