title: Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.
abstract: BACKGROUND
  Mutations within the ELANE gene, which encodes human neutrophil elastase, are the most common genetic causes of severe congenital neutropenia (SCN). No cases of SCN have been previously described from a Chinese population. Herein, we describe the clinical, hematologic and molecular characteristics of 7 Chinese SCN cases with novel ELANE mutations.
  
  
  METHODS
  Seven Chinese pediatric patients (4 males and 3 females) with suspected SCN were enrolled in this study. Clinical data, peripheral blood, bone marrow and immune function were evaluated for SCN. ELANE genomic DNA and cDNA sequences from patients and potential carriers were analyzed using polymerase chain reaction (PCR) and direct sequencing.
  
  
  RESULTS
  All the7 patients experienced recurrent infection (soft tissue, lung, oral cavity) during a period of 120 days. Noninfectious conditions such as anemia and osteopenia were found in most patients, and absolute peripheral neutrophil counts varied. DNA and cDNA sequencing demonstrated that the patients harbored a range of heterozygous ELANE gene mutations, including substitution, deletion, insertion and frame shift alterations. All the mutations had not been reported previously; however, no mutation carriers were identified among the parents or siblings, even in a family with 2 affected offspring.
  
  
  CONCLUSIONS
  SCN cases were identified for the first time in China, and all patients carried novel ELANE mutations. Granulocyte-colony stimulating factor (G-CSF) was an effective treatment for most of the SCN patients and prevented life-threatening bacterial infections.
authors.affiliation: From the Division of Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
authors.forename: Zhou
authors.initials: Z
authors.lastname: Shu
authors.forename: Xiao-Hui
authors.initials: XH
authors.lastname: Li
authors.forename: Xiao-Ming
authors.initials: XM
authors.lastname: Bai
authors.forename: Zhi-Yong
authors.initials: ZY
authors.lastname: Zhang
authors.forename: Li-ping
authors.initials: LP
authors.lastname: Jiang
authors.forename: Xue-Mei
authors.initials: XM
authors.lastname: Tang
authors.forename: Xiao-dong
authors.initials: XD
authors.lastname: Zhao
mesh_terms: D044466:Asian People; D002675:Child, Preschool; D002681:China; D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D019272:Leukocyte Elastase / Q000235:genetics* / Q000378:metabolism; D008297:Male; D050505:Mutant Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009503:Neutropenia / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D050505:Mutant Proteins; D016179:Granulocyte Colony-Stimulating Factor; D019272:Leukocyte Elastase