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Articles by S. N Constantinescu
Total Records ( 1 ) for S. N Constantinescu
  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
 

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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