{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:05:41Z","timestamp":1791295541573,"version":"4.1.0"},"reference-count":18,"publisher":"Rockefeller University Press","issue":"8","content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2009,8,3]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1084\/jem.20090693","type":"journal-article","created":{"date-parts":[[2009,7,21]],"date-time":"2009-07-21T01:33:47Z","timestamp":1248140027000},"page":"1701-1707","update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":78,"title":["An activating mutation in the <i>CSF3R<\/i> gene induces a hereditary chronic neutrophilia"],"prefix":"10.1084","volume":"206","author":[{"given":"Isabelle","family":"Plo","sequence":"first","affiliation":[{"name":"Research Laboratory on Hematopoiesis and Normal and Leukemic Stem Cells, U790, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, 94805 Villejuif, France 1"},{"name":"Universit\u00e9 Paris-Sud 11, 94805 Villejuif, France 2"},{"name":"Institut Gustave Roussy, Institut F\u00e9d\u00e9ratif de Recherche 34, 94805 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