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

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

BackgroundWiskott-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 patie...

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Main Authors: Lucas W. Santos, Samuel S. Medina, Jéssica O. Frade-Guanaes, Lúcia H. Siqueira, Luiz Gustavo R. de Lima, Bruna Chati, Marcos T. Nolasco da Silva, Adriana G. L. Riccetto, Paula Lyra, Ana Carla A. M. Falcão, Pedro P. A. Santos, Regina S. W. Di Gesu, Bianca Stefanello, Gabriela G. Yamaguti-Hayakawa, Carmem M. S. Bonfim, Maria M. S. Vilela, Margareth C. Ozelo
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Immunology
Subjects:
Wiskott-Aldrich syndrome
WAS
WASp mutation
thrombocytopenia
inborn errors of immunity
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1585594/full
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