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Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive

19 Aug 2018

Abstract excerpt

Congenital neutropenia is characterized by low absolute neutrophil numbers in blood, leading to recurrent bacterial infections, and patients often require life-long granulocyte CSF (G-CSF) support. X-linked neutropenia (XLN) is caused by gain-of-function mutations in the actin regulator Wiskott-Aldrich syndrome protein (WASp). To understand the pathophysiology in XLN and the role of WASp in neutrophils, we here...

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PMID: 30124469
DOI: 10.1172/jci64772

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