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

作者：Estevez Orlando A; Ortega Consuelo; Tejero Angeles; Fernandez Silvia; Aguado Rocio; Arostegui Juan I; Gonzalez Roca Eva; Pena Jose; Santamaria Manuel^*

来源：Pediatric Blood and Cancer, 2013, 60(7): E29-E31.

DOI：10.1002/pbc.24499

• atrial septal defect type II
• G6PC3
• G-CSF
• SCN4
• 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: E29E31.

• 出版日期2013-7