|
|||||
|
|
A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency |
|
| Authors: | Orlando A. Estévez MD Consuelo Ortega MD PhD Ángeles Tejero MD Silvia Fernández PhD Rocío Aguado PhD Juan I. Aróstegui MD PhD Eva González‐Roca BSc José Peña MD PhD Manuel Santamaría MD PhD |
| Affiliation: | 1. Clinical Immunology Service, University Hospital Reina Sofía, Córdoba, Spain;2. Department of Immunology, Faculty of Medicine University of, Córdoba, Córdoba, Spain;3. Cardiology Pediatric Unit, University Hospital Reina Sofía, Córdoba, Spain;4. Immunology Service, Biomedical Diagnostic Centre, Hospital Clinic, IDIBAPS, Barcelona, Spain |
| 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. |
| Keywords: | atrial septal defect type II G6PC3, G‐CSF SCN4 severe congenital neutropenia |