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Article

Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes

21 Oct 2013

Abstract excerpt

PURPOSE OF REVIEW: The purpose of this review is to summarize pathogenic mechanisms and clinical implications of the most illustrative genetic entities of congenital neutropenia syndromes. RECENT FINDINGS: Congenital neutropenia comprise monogenetic entities with or without additional immunologic and extrahaematopoietic syndromatic features. Continuous careful explorations of known entities such as ELANE, GFI1,...

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PMID: 24145314
DOI: 10.1097/aci.0000000000000014

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