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Inherited biallelic CSF3R mutations in severe congenital neutropenia

22 Apr 2014

Abstract excerpt

Severe congenital neutropenia (SCN) is characterized by low numbers of peripheral neutrophil granulocytes and a predisposition to life-threatening bacterial infections. We describe a novel genetic SCN type in 2 unrelated families associated with recessively inherited loss-of-function mutations in CSF3R, encoding the granulocyte colony-stimulating factor (G-CSF) receptor. Family A, with 3 affected children,...

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Identifiers

PMID: 24753537
DOI: 10.1182/blood-2013-11-535419

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