New insights into Wiskott-Aldrich syndrome: ten novel <i>WAS</i> mutations and their clinical impact in a Brazilian cohort.

ABSTRACT:

Background

Wiskott-Aldrich Syndrome (WAS) is a rare and severe X-linked immunodeficiency disorder characterized by microthrombocytopenia, eczema, and increased susceptibility to infections, autoimmunity, and malignancies. This study aims to explore molecular changes in the WAS gene in Brazilian patients and assess their correlation with clinical manifestations and disease severity.

Methods

Thirty-one patients from 27 families with thrombocytopenia suspected to have WAS or X-linked thrombocytopenia (XLT) were analyzed. Clinical evaluation, cell morphology analysis, and flow cytometry (when feasible) were performed. DNA samples underwent direct sequencing to identify WAS gene mutations.

Results

Genomic sequencing identified 17 WAS gene variants, 10 of which were novel,

SUBMITTER: Santos LW 

PROVIDER: S-EPMC12350080 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature