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Article

[Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Sept 2014

Liu Ning, Shi Huirong, Kong Xiangdong, Wu Qinghua, Xu Xueju, Bai Qiaoling, Feng Yin, Zhao Zhenhua

Abstract excerpt

OBJECTIVE: Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and an increased incidence of autoimmunity and malignancies. The patients always have a severe clinical phenotype that can result in death if not diagnosed and treated early in life. The treatment of choice with the best outcome is hematopoietic stem cell...

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PMID: 25476427

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.Semantic proximity Read ↗

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