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The Journal of Experimental Medicine
Year: 2009  |  Volume: 206  |  Issue: 8  |  Page No.: 1701 - 1707

An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia

I Plo, Y Zhang, J. P Le Couedic, M Nakatake, J. M Boulet, M Itaya, S. O Smith, N Debili, S. N Constantinescu, W Vainchenker, F Louache and S. de Botton    

Abstract:

We identify an autosomal mutation in the CSF3R gene in a family with a chronic neutrophilia. This T617N mutation energetically favors dimerization of the granulocyte colony-stimulating factor (G-CSF) receptor transmembrane domain, and thus, strongly promotes constitutive activation of the receptor and hypersensitivity to G-CSF for proliferation and differentiation, which ultimately leads to chronic neutrophilia. Mutant hematopoietic stem cells yield a myeloproliferative-like disorder in xenotransplantation and syngenic mouse bone marrow engraftment assays. The survey of 12 affected individuals during three generations indicates that only one patient had a myelodysplastic syndrome. Our data thus indicate that mutations in the CSF3R gene can be responsible for hereditary neutrophilia mimicking a myeloproliferative disorder.

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