X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
Journal of Allergy and Clinical Immunology（2016）
摘要
Our observations establish a causal link between an ezrin-radixin-moesin protein mutation and a primary immunodeficiency that could be referred to as X-linked moesin-associated immunodeficiency.
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关键词
Leukopenia,primary immunodeficiency,moesin,ezrin-radixin-moesin protein,adhesion,migration
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