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

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...

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Bibliographic Details
Main Authors: Xuening Hou, Jie Sun, Chen Liu, Jihong Hao
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Pediatrics
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

Internet

https://www.frontiersin.org/articles/10.3389/fped.2021.691524/full

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