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Article

A novel mutation in Wiskott-Aldrich syndrome and successfully treated with umbilical cord blood transplantation.

Blood cells, molecules & diseases - 1 Dec 2014

Zhu Xiaoyu, Tang Baolin, Zheng Changcheng, Liu Huilan, Song Kaidi, Sun Zimin

Abstract excerpt

We report a novel mutation in a boy with Wiskott-Aldrich syndrome (WAS) who was 4 years and 10 months of age and underwent successful umbilical cord blood transplantation (UCBT). The child presented at 3 months of age with symptomatic thrombocytopenia and eczema. Despite a large dose of intravenous immunoglobulin treatment, no increase in the platelet count was observed. A genetic analysis revealed a deletion...

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PMID: 24824128
DOI: 10.1016/j.bcmd.2014.03.002

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

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