title: A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear.
abstract: Severe congenital neutropenia type 4 is a disorder of the hematopoietic system associated with mutations in the glucose-6-phosphatase catabolic 3 (G6PC3) gene. This disorder is characterized by neutropenia, congenital heart defects, urogenital malformations, and prominent superficial veins. To our knowledge, although intermittent thrombocytopenia is observed in this mutation, the coexistence of large thrombocytes is rarely seen. Here we present a case of severe congenital neutropenia type 4 with G6PC3 mutation and large platelets in the peripheral smear.
authors.affiliation: Departments of *Pediatrics, Division of Hematology and Oncology †Pediatrics, Division of Neonatology §Pediatrics, Faculty of Medicine, Cumhuriyet University, Sivas ‡Department of Medical Genetics, Faculty of Medicine, Ege University, İzmir, Turkey.
authors.forename: Meriç
authors.initials: M
authors.lastname: Kaymak Cihan
authors.forename: Fatih
authors.initials: F
authors.lastname: Bolat
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Onay
authors.forename: Ahmet
authors.initials: A
authors.lastname: Sari
authors.forename: Elif
authors.initials: E
authors.lastname: Ünver Korğali
authors.forename: Şükran
authors.initials: Ş
authors.lastname: Aslan
authors.forename: Ceylan
authors.initials: C
authors.lastname: Cura
authors.forename: Dilara
authors.initials: D
authors.lastname: İçağasioğlu
mesh_terms: D001792:Blood Platelets / Q000473:pathology*; D001800:Blood Specimen Collection; D000080984:Congenital Bone Marrow Failure Syndromes; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009503:Neutropenia / Q000097:blood / Q000151:congenital* / Q000201:enzymology / Q000235:genetics
chemical_list: D005952:Glucose-6-Phosphatase; C492193:G6PC3 protein, human