Case Report: Wiskott-Aldrich Syndrome Caused by Extremely Skewed X-Chromosome Inactivation in a Chinese Girl

Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder caused by abnormal expression of Wiskott-Aldrich syndrome protein due to WAS gene mutation, which is generally characterized by microthrombocytopenia, eczema, recurrent infections, and high risk of autoimmune complications a...

Full description

Bibliographic Details

Published in:	Frontiers in Pediatrics
Main Authors:	Xuening Hou, Jie Sun, Chen Liu, Jihong Hao
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2021-07-01
Subjects:	Wiskott-Aldrich syndrome microthrombocytopenia female carrier heterozygous mutation X-chromosome inactivation
Online Access:	https://www.frontiersin.org/articles/10.3389/fped.2021.691524/full