Haematologica
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Haematologica, Vol 90, Issue 9, 1271-1272
Copyright © 2005 by Ferrata Storti Foundation

Letter

The role of a mutation of the CXCR4 gene in WHIM syndrome

S Taniuchi, M Masuda, Y Fujii, K Izawa, H Kanegane, and Y Kobayashi

We investigated the role of a mutation of the CXCR4 gene in 11-year-old twin sisters with WHIM syndrome. The mutated gene may result in production of the mutant CXCR4 protein causing abnormal apoptosis and migratory function, which are thought to be related to the cause of chronic neutropenia in WHIM syndrome.




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Copyright © 2005 by the Ferrata Storti Foundation.