haematologica/the hematology journal | 2006; 91(5) | 589 |

• Main Authors: Göran Carlsson, Andrew A. G. Aprikyan, Kim Göransdotter Ericson, Steve Stein, Vahagn Makaryan, David C. Dale, Magnus Nordenskjöld, Bengt Fadeel, Jan-inge Hentera
• Other Authors: The Pennsylvania State University CiteSeerX Archives
• Format: Text
• Language: English
• Subjects: Northern Sweden
• Online Access: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.619.7543; http://www.haematologica.org/content/91/5/589.full.pdf

Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden Severe congenital neutropenia (SCN),also known as Kostmann syndrome,was first described by Rolf Kostmann in 1956 as an autosomal recessive disorder in a large kindred from northern Sweden.1,2 The disease is characterized by an arrest of the maturation of neutrophil precursors at the promyelocytic stage of differentiation and low levels of mature neutrophils in peripher-al blood. Before the availability of granulo-cyte colony-stimulating factor (G-CSF) ther-apy these patients were treated with antibi-