title: Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report.
abstract: BACKGROUND
  Severe congenital neutropenia (SCN) is an immunodeficiency disease characterized low blood neutrophil counts, early bacterial infections, and risk of leukaemia development. Heterozygous mutations in the ELANE gene coding neutrophil elastase are associated with SCN. Patients with SCN suffer from recurrent bacterial infections and often succumb them. To our knowledge, this is the first report of SCN from Vietnam.
  
  
  METHODS
  A 6-year-old boy was admitted due to severe bacterial infection and severe neutropenia. He had recurrent infections from 8 months of age, and was misdiagnosed with tuberculosis and and autoimmune neutropenia in infancy at 21 and 41 months of age, respectively. His medical report has showed severe neutropenia for many times. In direct DNA sequencing analysis, we found an ELANE gene mutation (R81P), which had been confirmed to cause SCN.
  
  
  CONCLUSIONS
  The missed and delayed diagnosis may be attributable to insufficient awareness of this rare disease on the background of frequent infections even in the immunocompetent pediatric population in Vietnam. Our results indicate further evidence for the role of ELANE in SCN.
authors.affiliation: Department of Pediatrics, Haiphong University of Medicine and Pharmacy, 72 A Nguyen Binh Khiem, Ngo Quyen, Haiphong Vietnam.
authors.forename: Quang Van
authors.initials: QV
authors.lastname: Vu
authors.affiliation: Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Science, Kanazawa University, Kanazawa, Japan.
authors.forename: Taizo
authors.initials: T
authors.lastname: Wada
authors.affiliation: Department of Pediatrics, Haiphong University of Medicine and Pharmacy, 72 A Nguyen Binh Khiem, Ngo Quyen, Haiphong Vietnam.
authors.forename: Tham Thi
authors.initials: TT
authors.lastname: Tran
authors.affiliation: Haiphong Children Hospital, Haiphong, Vietnam.
authors.forename: Duc Ngoc
authors.initials: DN
authors.lastname: Ngo
authors.affiliation: Department of Pediatrics, Haiphong University of Medicine and Pharmacy, 72 A Nguyen Binh Khiem, Ngo Quyen, Haiphong Vietnam.
authors.forename: Thuc
authors.initials: T
authors.lastname: Van Dinh
authors.affiliation: Center for Clinical Laboratory Medicine, Haiphong University of Medicine and Pharmacy, Haiphong, Vietnam.
authors.forename: Cuong Hung
authors.initials: CH
authors.lastname: Nguyen
authors.affiliation: National Hospital of Pediatrics, Hanoi, Vietnam.
authors.forename: Huong Thi Minh
authors.initials: HT
authors.lastname: Le
authors.affiliation: Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Science, Kanazawa University, Kanazawa, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Yachie
authors.affiliation: Department of Pediatrics, Haiphong University of Medicine and Pharmacy, 72 A Nguyen Binh Khiem, Ngo Quyen, Haiphong Vietnam.
authors.forename: Sang Ngoc
authors.initials: SN
authors.lastname: Nguyen
keywords: Autoimmune neutropenia; Congenital severe neutropenia; ELANE; Severe bacterial infection