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A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency


  • Conflict of interest: Nothing to declare.

  • O.A.E. and C.O. equally contributed to this work.


Severe congenital neutropenia type 4 (SCN4) is associated with mutations in the G6PC3 gene. To date, all patients bearing the p.Gly260Arg variant of the G6PC3 gene show heart defects. Here, we present a case of the p.Gly260Arg variant in a patient who did not have structural or functional heart anomalies. Treatment with granulocyte colony-stimulating factor recovered the absolute neutrophil count and neutrophil functional competence. Pediatr Blood Cancer 2013; 60: E29–E31. © 2013 Wiley Periodicals, Inc.