Conflict of interest: Nothing to declare.
Article first published online: 25 FEB 2013
Copyright © 2013 Wiley Periodicals, Inc.
Pediatric Blood & Cancer
Volume 60, Issue 7, pages E29–E31, July 2013
How to Cite
Estévez, O. A., Ortega, C., Tejero, Á., Fernández, S., Aguado, R., Aróstegui, J. I., González-Roca, E., Peña, J. and Santamaría, M. (2013), A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. Pediatr. Blood Cancer, 60: E29–E31. doi: 10.1002/pbc.24499
O.A.E. and C.O. equally contributed to this work.
- Issue published online: 22 MAY 2013
- Article first published online: 25 FEB 2013
- Manuscript Accepted: 10 JAN 2013
- Manuscript Received: 23 OCT 2012
- Spanish Ministry of Education. Grant Number: SAF2006-09991
- Consejería de Salud Junta de Andalucía, Spain. Grant Number: 0156/05
- atrial septal defect type II;
- G6PC3, G-CSF;
- severe congenital neutropenia
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.