Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome

Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome (WAS) (MIM #301000) is a rare X-linked primary immunodeficiency due to mutations in the WAS gene, characterized by thrombocytopenia with small platelets, eczema, recurrent infections, and an increased incidence of autoimmunity and malignancies. A wide spectrum of mutations h...

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Main Authors: Elisabetta Toriello, Rosa Maritato, Antonio De Rosa, Maria Valeria Esposito, Carla Damiano, Carmen Rosano, Emilia Cirillo, Antonietta Tarallo, Cosimo Abagnale, Francesca Cillo, Roberta Romano, Laura Grilli, Marika Comegna, Giancarlo Blasio, Giancarlo Parenti, Enrico Maria Surace, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Immunology
Subjects:
Wiskott-Aldrich
WASP
splice-site mutation
next-generation sequencing (NGS)
gene panel
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1517347/full
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