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

Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency.

Genes and immunity - 1 Feb 2026

Dobrose Megan M, Kars Meltem Ece, Perez-Caraballo Jareb J, Roark Colleen M, Mariskanish Christine, Zavaleta-Martinez Oscar, Gomez-Hernandez Noemi, Lugo-Reyes Saul Oswaldo, Itan Yuval, Blancas-Galicia Lizbeth, Martínez-Barricarte Rubén

Abstract excerpt

Actin-Related Protein Complex 1B (ARPC1B) is a subunit of the ARP2/3 complex that is predominately expressed in hematopoietic cells and is involved in the regulation of actin polymerization. ARPC1B deficiency leads to combined immunodeficiency (CID) with symptoms of eczema, allergies, inflammation, recurrent infection, and thrombocytopenia. We characterize the disease-causing variant c.899_944del (p.E300Gfs*7) on...

Read the complete abstract on PubMed

Topics

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

Share to Actin-Related Protein 2-3 Complex
Share to B-Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to CD4 gene

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 41249596
DOI: 10.1038/s41435-025-00368-w
PMCID: PMC12923354

Genes

ARPC1B
CD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency.PMID 41249596Read ↗

Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity.Semantic proximity Read ↗

Expanding the clinical and immunological phenotypes of COPB1 deficiency.Semantic proximity Read ↗

Characterisation of a Leaky Splice-Site Mutation Associated with Phenotypic Diversity in Two Unrelated Patients with ARPC1B Deficiency.Semantic proximity Read ↗

β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies.Semantic proximity Read ↗

Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency.Semantic proximity Read ↗

Novel IL2RB gene defect associated with severe eczema, recurrent infections, lymphoproliferation, and IgA nephropathy.Semantic proximity Read ↗

Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.Semantic proximity Read ↗

Recurrent Respiratory Infections Revealing CD8α Deficiency.Semantic proximity Read ↗

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.Semantic proximity Read ↗

Naturally occurring mutation affecting the MyD88-binding site of TNFRSF13B impairs triggering of class switch recombination.Semantic proximity Read ↗

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.Semantic proximity Read ↗

Case Report: Sirolimus as management strategy for thrombocytopenia related to ARPC1B deficiency.Semantic proximity Read ↗

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