Immunogenetic investigation of WAS patients revealing impaired IL-6/STAT3 signaling in T cells.

ABSTRACT: Wiskott-Aldrich syndrome (WAS) is an inborn error of immunity caused by loss-of-function mutations in the WAS gene, which encodes WASp, a key regulator of cytoskeletal remodeling. In addition to microthrombocytopenia, affected individuals often present with recurrent infections, eczema, eosinophilia and elevated IgE levels, suggesting a potential pathophysiological overlap with STAT3 hyper-IgE syndrome (HIES). Given these shared features, we investigated the immunogenetic characteristics of three WAS patients and explored the IL-6/STAT3 pathway as a potential underlying mechanism. Flow cytometry revealed absent WASp expression in P1 and P3, while P2 showed reduced level. Genetic analysis identified three hemizygous mutations: A56V substitution within the WH1 domain in P1, and two sp

SUBMITTER: Bouzakoura F 

PROVIDER: S-EPMC12479476 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature