Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees

Br J Haematol. 2020 Dec;191(5):930-934. doi: 10.1111/bjh.17081. Epub 2020 Sep 23.
No abstract available

Keywords: congenital neutropenia; granulocyte colony-stimulating factor; granulocyte colony-stimulating factor receptor; neutrophils; primary immunodeficiency.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Humans
  • Loss of Function Mutation*
  • Male
  • Neutropenia / genetics*
  • Neutrophils*
  • Pedigree*
  • Receptors, Colony-Stimulating Factor / genetics*

Substances

  • CSF3R protein, human
  • Receptors, Colony-Stimulating Factor