Normal peripheral blood neutrophil numbers accompanying ELANE whole gene deletion mutation

Blood Adv. 2019 Aug 27;3(16):2470-2473. doi: 10.1182/bloodadvances.2019000498.

Abstract

  1. The patient reported here, along with collective observations in the literature, suggest that ELANE deletion does not cause neutropenia.

  2. Potential therapeutic genome editing involving knockout of the mutant ELANE allele is therefore not expected to produce neutropenia.

Publication types

  • Case Reports

MeSH terms

  • Blood Cell Count
  • Chromosome Deletion
  • Gene Deletion*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Leukocyte Count*
  • Leukocyte Elastase / genetics*
  • Male
  • Neutropenia / blood
  • Neutropenia / genetics
  • Neutrophils*
  • Young Adult

Substances

  • ELANE protein, human
  • Leukocyte Elastase