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 language | English |
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Pages (from-to) | 3688-3689 |
Number of pages | 2 |
Journal | Blood |
Volume | 123 |
Issue number | 24 |
DOIs |
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State | Published - Jun 12 2014 |