Congenital Neutropenia and G6PC3 Mutations

The finding of a low neutrophil count provokes concern: Is the phenomenon benign and transient, or does it represent something more serious? Individuals that have low absolute neutrophil counts (≤500/µL) without recurrent infections usually have benign chronic neutropenia, and their counts typically rise into the normal range or higher during periods of stress or infection. In contrast, patients that have low neutrophil numbers with recurrent infections might have severe congenital neutropenia. Now, investigators report a new syndrome characterized by neonatal sepsis and other infections, a dearth of mature neutrophils in peripheral blood and bone marrow, a prominent cutaneous venous pattern, and structural cardiac or urologic abnormalities…