title: Novel ELANE gene mutation in a Korean girl with severe congenital neutropenia.
abstract: Severe congenital neutropenia is a heterozygous group of bone marrow failure syndromes that cause lifelong infections. Mutation of the ELANE gene encoding human neutrophil elastase is the most common genetic alteration. A Korean female pediatric patient was admitted because of recurrent cervical lymphadenitis without abscess formation. She had a past history of omphalitis and isolated neutropenia at birth. The peripheral blood showed a markedly decreased absolute neutrophil count, and the bone marrow findings revealed maturation arrest of myeloid precursors at the promyelocyte to myelocyte stage. Her direct DNA sequencing analysis demonstrated an ELANE gene mutation (c.607G > C; p.Gly203Arg), but her parents were negative for it. She showed only transient response after subcutaneous 15 µg/kg/day of granulocyte colony stimulating factor administration for six consecutive days. During the follow-up observation period, she suffered from subsequent seven febrile illnesses including urinary tract infection, septicemia, and cellulitis.
authors.affiliation: Department of Pediatrics, Kyungpook National University Medical Center, Kyungpook National University School of Medicine, Daegu, Korea.
authors.forename: Ye Jee
authors.initials: YJ
authors.lastname: Shim
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Jang Soo
authors.initials: JS
authors.lastname: Suh
authors.forename: Kun Soo
authors.initials: KS
authors.lastname: Lee
mesh_terms: D001424:Bacterial Infections; D001483:Base Sequence; D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D016179:Granulocyte Colony-Stimulating Factor / Q000008:administration & dosage / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007958:Leukocyte Count; D019272:Leukocyte Elastase / Q000235:genetics*; D008199:Lymphadenitis; D009503:Neutropenia / Q000097:blood / Q000151:congenital* / Q000235:genetics; D009504:Neutrophils; D017354:Point Mutation; D056910:Republic of Korea; D017422:Sequence Analysis, DNA
chemical_list: D016179:Granulocyte Colony-Stimulating Factor; D019272:Leukocyte Elastase