Kostmann syndrome or infantile genetic agranulocytosis, part two: understanding the underlying genetic defects in severe congenital neutropenia
Article first published online: 24 MAY 2007
©2007 The Author(s)/Journal Compilation © 2007 Foundation Acta Pædiatrica/Acta Pædiatrica
Volume 96, Issue 6, pages 813–819, June 2007
How to Cite
Carlsson, G., Melin, M., Dahl, N., Ramme, K. G., Nordenskjöld, M., Palmblad, J., Henter, J.-I. and Fadeel, B. (2007), Kostmann syndrome or infantile genetic agranulocytosis, part two: understanding the underlying genetic defects in severe congenital neutropenia. Acta Paediatrica, 96: 813–819. doi: 10.1111/j.1651-2227.2007.00274.x
- Issue published online: 24 MAY 2007
- Article first published online: 24 MAY 2007
- Received 23 January 2007; Revised: 11 February 2007; Accepted: 16 February 2007.
- HS-1-associated protein X;
- Kostmann syndrome;
- Neutrophil elastase;
- Severe congenital neutropenia
Congenital neutropenia in man was first reported 50 years ago by the Swedish paediatrician Rolf Kostmann. He coined the term ‘infantile genetic agranulocytosis’ for this condition, which is now known as Kostmann syndrome. Recent studies have revealed mutations in ELA-2, encoding the neutrophil granule protease, neutrophil elastase, in autosomal dominant neutropenia, and mutations in HAX-1, encoding an anti-apoptotic protein, in autosomal recessive neutropenia.
Conclusion: Future studies should aim to clarify the mechanisms underlying the evolution of secondary malignancies in these patients.