Molecular basis of congenital neutropenia
- PMID: 19794077
- PMCID: PMC2754945
- DOI: 10.3324/haematol.2009.012260
Molecular basis of congenital neutropenia
Abstract
In 1950 Rolf Kostmann discovered autosomal recessive severe congenital neutropenia and for more than 50 years its molecular etiology has remained enigmatic. In the last years, however, there have been impressive advances in this field. In this perspective article, Dr. Klein summarizes our current knowledge of the molecular basis of congenital neutropenia. See related paper on page 1449.
Comment in
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Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.Haematologica. 2010 Jan;95(1):168-9. doi: 10.3324/haematol.2009.015370. Haematologica. 2010. PMID: 20065084 Free PMC article. No abstract available.
Comment on
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G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia.Haematologica. 2009 Oct;94(10):1449-52. doi: 10.3324/haematol.2009.009001. Haematologica. 2009. PMID: 19794089 Free PMC article.
References
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- Kostmann R. Hereditär reticulos — en ny systemsjukdom. Svenska Laekartidningen. 1950;47:2861–8.
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- Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet. 1999;23:433–6. - PubMed
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