Severe congenital neutropenia: a case study.
Severe congenital neutropenia, or Kostmann syndrome, describes a rare autosomal recessive disorder in which the neutrophils fail to reach a mature and functional state. The infant with SCN often presents with severe infections beginning in the first month of life. Recently, treatment with recombinant granulocyte colony-stimulating factor has been found to be effective in reducing the mortality and morbidity of this often fatal disorder.
Parker
L A
LA
College of Nursing, University of Florida, Gainesville 32610, USA.
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004200:Diseases in Twins; D017809:Fatal Outcome; D005808:Genes, Recessive; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases; D008297:Male; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics / Q000628:therapy
D016179:Granulocyte Colony-Stimulating Factor