Wiskott-Aldrich syndrome: A new synonym mutation in the WAS gene
Yuxin Sun,
Xiaomin Song,
Hua Pan
et al.
Abstract:Wiskott-Aldrich syndrome, synonymous mutation, newborn, hematopoietic stem cell transplantation, intracranial hemorrhage Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive primary immunodeficiency disorder. Mutations in the WAS gene are considered to be the primary cause of WAS. In this work, we report a boy who presented with intracranial hemorrhage (ICH) as an initial symptom and detects a novel pathogenic synonymous mutation in his WAS gene. His mother was a carrier of the mutant gene. The mutation… Show more
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