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Article

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

Journal of clinical immunology - 7 Mar 2026

Quach Alex, King Jovanka, Putty Trishni, Gold Michael, Quinn Patrick, Ferrante Antonio

Abstract excerpt

Autosomal-recessive pathogenic variants in Actin-related protein 2/3 complex subunit 1B (ARPC1B) result in an inborn error of immunity associated with eczema, thrombocytopenia, leukocytoclastic vasculitis and colitis. ARPC1B deficiency leads to impaired actin filament branching, affecting cytoskeletal processes in leukocytes, including migration, adhesion, endocytosis, and phagocytosis. This report presents two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41793545
DOI: 10.1007/s10875-026-02002-4
PMCID: PMC13009096

Genes

ARPC1B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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