Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 24-01-2017
Symbol SCNH
Location 1p34.3
Name neutrophilia, hereditary
Other name(s) Kostmann disease
Corresponding gene CSF3R
Other symbol(s) SCN, NTPH
Main clinical features
  • lifelong, persistent neutrophilia, with neutrophils morphologically and functionally normal, associated findings were hepatosplenomegaly, histiocytes of Gaucher type, and thickened calvaria due to widened diploe
  • leukocyte alkaline phosphatase, serum vitamin B12 levels and heat-labile serum alkaline phosphatase were elevated
  • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type disease
    Gene product
    Name granulocyte colony stimulating factor receptor (CSF3R)
  • overexpression of ARHGDI and decreased expression of RAC2 in neutrophils
  • associated with defective expression of BCL2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells