severe congenital neutropenia (SCN).
severe congenital neutropenia was first clearly described by Kostmann in 1956. It is now known to be caused by a defect in a gene on chromosome 1 (in 1p35-p34.3) that codes for what is called the granulocyte colony-stimulating factor receptor (GCSFR).
Treatment with recombinant human granulocyte colony-stimulating factor (GCSF) elevates the granulocyte counts, helps resolve preexisting infections, diminishes the number of new infections and results in significant improvements in survival and quality of life. Some patients have developed leukemia or myelodysplastic syndrome following treatment with GCSF.
Congenital neutropenia is due to diverse causes. Not all patients with congenital neutropenia have mutations in the GCSFR gene.
Alternative names for Kostmann syndrome (or disease) include not only severe congenital neutropenia (SCN) but also infantile genetic agranulocytosis and genetic infantile agranulocytosis.
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