Abstract

In this issue of Blood, Triot et al describe a novel genetic subtype of severe congenital neutropenia (SCN) characterized by inherited, biallelic loss-of-function mutations in the granulocyte -colony-stimulating factor (G-CSF) receptor gene, CSF3R.1 These findings expand the spectrum of pathogenic CSF3R mutations in humans and provide long overdue validation of mouse models generated in the 1990s.

Original languageEnglish
Pages (from-to)3688-3689
Number of pages2
JournalBlood
Volume123
Issue number24
DOIs
StatePublished - Jun 12 2014

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