title: A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency.
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.
authors: Clinical Immunology Service, University Hospital Reina Sofía, Córdoba, Spain.
authors: Orlando A
authors: OA
authors: Estévez
authors: Consuelo
authors: C
authors: Ortega
authors: Ángeles
authors: Á
authors: Tejero
authors: Silvia
authors: S
authors: Fernández
authors: Rocío
authors: R
authors: Aguado
authors: Juan I
authors: JI
authors: Aróstegui
authors: Eva
authors: E
authors: González-Roca
authors: José
authors: J
authors: Peña
authors: Manuel
authors: M
authors: Santamaría
mesh_terms: D002648:Child; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D008297:Male; D009503:Neutropenia / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D010641:Phenotype
chemical_list: D016179:Granulocyte Colony-Stimulating Factor; D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human