Severe congenital neutropenia unresponsive to G-CSF

Br J Haematol. 1995 Sep;91(1):43-5. doi: 10.1111/j.1365-2141.1995.tb05242.x.


Severe congenital neutropenia (SCN) is an inherited disorder characterized by severe neutropenia and recurrent infections from an early age, with bone marrow showing a maturational arrest of granulopoiesis at the promyelocyte stage. Since the introduction of G-CSF therapy the prognosis for affected children has improved dramatically. We describe two patients with SCN who were clinically unresponsive to G-CSF therapy. The results of in-vitro colony assays from these two patients are presented together with the results from the mother of one of these patients who also has a chronic neutropenia, and a further child with SCN who responded to treatment with G-CSF.

Publication types

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

MeSH terms

  • Adult
  • Chronic Disease
  • Colony-Forming Units Assay
  • Drug Resistance
  • Female
  • Granulocyte Colony-Stimulating Factor / therapeutic use*
  • Growth Substances / pharmacology
  • Hematopoietic Stem Cells
  • Humans
  • Infant
  • Infant, Newborn
  • Neutropenia / congenital*
  • Neutropenia / genetics
  • Neutropenia / therapy*


  • Growth Substances
  • Granulocyte Colony-Stimulating Factor