Severe congenital neutropenia with elastase, neutrophil expressed (ELANE) gene mutation in a Tanzanian child

Br J Haematol. 2022 Mar;196(5):1271-1274. doi: 10.1111/bjh.17924. Epub 2021 Nov 1.
No abstract available

Keywords: childhood; elastase, neutrophil expressed gene; fever; granulocyte-colony stimulating factor; severe congenital neutropenia.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Bone Marrow / pathology
  • Congenital Bone Marrow Failure Syndromes / epidemiology
  • Congenital Bone Marrow Failure Syndromes / genetics*
  • Congenital Bone Marrow Failure Syndromes / pathology
  • Congenital Bone Marrow Failure Syndromes / therapy
  • Disease Management
  • Humans
  • Infant
  • Leukocyte Elastase / genetics*
  • Male
  • Mutation
  • Neutropenia / congenital*
  • Neutropenia / epidemiology
  • Neutropenia / genetics
  • Neutropenia / pathology
  • Neutropenia / therapy
  • Tanzania / epidemiology

Substances

  • ELANE protein, human
  • Leukocyte Elastase

Supplementary concepts

  • Neutropenia, Severe Congenital, Autosomal Recessive 3