A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency12. Issue 7 (25th February 2013)

• Record Type: Journal Article
• Authors: Estévez, Orlando A.; Ortega, Consuelo; Tejero, Ángeles; Fernández, Silvia; Aguado, Rocío; Aróstegui, Juan I.; González‐Roca, Eva; Peña, José; Santamaría, Manuel
• Is Part Of: Pediatric blood & cancer. Volume 60:Issue 7(2013:Jul.)
• Page Start: E29
• Page End: E31
• Publication Date: 2013-02-25
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.24499
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p>Severe congenital neutropenia type 4 (SCN4) is associated with mutations in the <italic>G6PC3</italic> gene. To date, all patients bearing the p.Gly260Arg variant of the <italic>G6PC3</italic> 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.</p> </abstract>