SEARCH

SEARCH BY CITATION

Keywords:

  • atrial septal defect type II;
  • G6PC3, G-CSF;
  • SCN4;
  • severe congenital neutropenia

Abstract

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.