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[Identification of two novel WASP gene mutations in 3 boys with Wiskott-Aldrich syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Aug 2003

Jiang Li-ping, Xu You-hua, Yang Xi-qiang, Liu En-mei, Wang Li-jia, Lau Yu-lung, Chan Koon-wing

Abstract excerpt

OBJECTIVE: The Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency caused by mutations in the WAS protein (WASP) gene. The disease is characterized by recurrent infections, eczema, and thrombocytopenia with small platelets, and it is known to be associated with extensive clinical variability, and mutation studies indicated that genotypes are also highly variant among WAS patients. The...

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PMID: 14744380

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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