An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia
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 a...
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| Veröffentlicht in: | The Journal of experimental medicine 2009-08, Vol.206 (8), p.1701-1707 |
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| container_title | The Journal of experimental medicine |
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| creator | Plo, Isabelle Zhang, Yanyan Le Couédic, Jean-Pierre Nakatake, Mayuka Boulet, Jean-Michel Itaya, Miki Smith, Steven O Debili, Najet Constantinescu, Stefan N Vainchenker, William Louache, Fawzia de Botton, Stéphane |
| description | 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. |
| doi_str_mv | 10.1084/jem.20090693 |
| format | Article |
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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.</description><identifier>ISSN: 0022-1007</identifier><identifier>EISSN: 1540-9538</identifier><identifier>DOI: 10.1084/jem.20090693</identifier><identifier>PMID: 19620628</identifier><language>eng</language><publisher>United States: The Rockefeller University Press</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Amino Acid Substitution ; Animals ; Beclomethasone ; Brief Definitive Report ; Child ; Chronic Disease ; Dimerization ; Female ; Genes, Dominant ; Germ-Line Mutation ; Granulocyte Colony-Stimulating Factor - pharmacology ; Hematopoietic Stem Cell Transplantation ; Humans ; Leukocytosis - blood ; Leukocytosis - genetics ; Male ; Mice ; Mice, Inbred NOD ; Mice, Knockout ; Mice, SCID ; Middle Aged ; Models, Molecular ; Molecular Sequence Data ; Myeloproliferative Disorders - genetics ; Neutrophils - drug effects ; Neutrophils - pathology ; Point Mutation ; Protein Structure, Tertiary ; Receptors, Colony-Stimulating Factor - chemistry ; Receptors, Colony-Stimulating Factor - genetics ; Recombinant Proteins ; Transplantation, Heterologous ; Transplantation, Isogeneic ; Young Adult</subject><ispartof>The Journal of experimental medicine, 2009-08, Vol.206 (8), p.1701-1707</ispartof><rights>2009 Plo et al. 2009</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c448t-d3018a7806177a570c938376a9301189f2e164dd6309bd3c717b1c3ddda85e193</citedby><cites>FETCH-LOGICAL-c448t-d3018a7806177a570c938376a9301189f2e164dd6309bd3c717b1c3ddda85e193</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19620628$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Plo, Isabelle</creatorcontrib><creatorcontrib>Zhang, Yanyan</creatorcontrib><creatorcontrib>Le Couédic, Jean-Pierre</creatorcontrib><creatorcontrib>Nakatake, Mayuka</creatorcontrib><creatorcontrib>Boulet, Jean-Michel</creatorcontrib><creatorcontrib>Itaya, Miki</creatorcontrib><creatorcontrib>Smith, Steven O</creatorcontrib><creatorcontrib>Debili, Najet</creatorcontrib><creatorcontrib>Constantinescu, Stefan N</creatorcontrib><creatorcontrib>Vainchenker, William</creatorcontrib><creatorcontrib>Louache, Fawzia</creatorcontrib><creatorcontrib>de Botton, Stéphane</creatorcontrib><title>An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia</title><title>The Journal of experimental medicine</title><addtitle>J Exp Med</addtitle><description>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.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Amino Acid Substitution</subject><subject>Animals</subject><subject>Beclomethasone</subject><subject>Brief Definitive Report</subject><subject>Child</subject><subject>Chronic Disease</subject><subject>Dimerization</subject><subject>Female</subject><subject>Genes, Dominant</subject><subject>Germ-Line Mutation</subject><subject>Granulocyte Colony-Stimulating Factor - pharmacology</subject><subject>Hematopoietic Stem Cell Transplantation</subject><subject>Humans</subject><subject>Leukocytosis - blood</subject><subject>Leukocytosis - genetics</subject><subject>Male</subject><subject>Mice</subject><subject>Mice, Inbred NOD</subject><subject>Mice, Knockout</subject><subject>Mice, SCID</subject><subject>Middle Aged</subject><subject>Models, Molecular</subject><subject>Molecular Sequence Data</subject><subject>Myeloproliferative Disorders - genetics</subject><subject>Neutrophils - drug effects</subject><subject>Neutrophils - pathology</subject><subject>Point Mutation</subject><subject>Protein Structure, Tertiary</subject><subject>Receptors, Colony-Stimulating Factor - chemistry</subject><subject>Receptors, Colony-Stimulating Factor - genetics</subject><subject>Recombinant Proteins</subject><subject>Transplantation, Heterologous</subject><subject>Transplantation, Isogeneic</subject><subject>Young Adult</subject><issn>0022-1007</issn><issn>1540-9538</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkFtLAzEQhYMotlbffJb8ALdOkt1cXoRSrAoFoepzSJO0m9LNlt1swX_vSuvtaYY5Z84MH0LXBMYEZH638dWYAijgip2gISlyyFTB5CkaAlCaEQAxQBdtuwEgeV7wczQgilPgVA7RYhKxsSnsTQpxjasu9U0dcYg4lR5PX2dsgdc--n7iOutbbHDpG-9CMs0HtmVTx2Bx9F1q6l0ZtsFcorOV2bb-6lhH6H328DZ9yuYvj8_TyTyzeS5T5hgQaYQEToQwhQCrmGSCG9ULRKoV9YTnznEGaumYFUQsiWXOOSMLTxQboftD7q5bVt5ZH1NjtnrXhKp_Tdcm6P9KDKVe13tNBaVEQB9wewiwTd22jV_97BLQX2x1z1Z_s-3tN3_v_ZqPMNknvT91gg</recordid><startdate>20090803</startdate><enddate>20090803</enddate><creator>Plo, Isabelle</creator><creator>Zhang, Yanyan</creator><creator>Le Couédic, Jean-Pierre</creator><creator>Nakatake, Mayuka</creator><creator>Boulet, Jean-Michel</creator><creator>Itaya, Miki</creator><creator>Smith, Steven O</creator><creator>Debili, Najet</creator><creator>Constantinescu, Stefan N</creator><creator>Vainchenker, William</creator><creator>Louache, Fawzia</creator><creator>de Botton, Stéphane</creator><general>The Rockefeller University Press</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope></search><sort><creationdate>20090803</creationdate><title>An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia</title><author>Plo, Isabelle ; Zhang, Yanyan ; Le Couédic, Jean-Pierre ; Nakatake, Mayuka ; Boulet, Jean-Michel ; Itaya, Miki ; Smith, Steven O ; Debili, Najet ; Constantinescu, Stefan N ; Vainchenker, William ; Louache, Fawzia ; de Botton, Stéphane</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c448t-d3018a7806177a570c938376a9301189f2e164dd6309bd3c717b1c3ddda85e193</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Amino Acid Substitution</topic><topic>Animals</topic><topic>Beclomethasone</topic><topic>Brief Definitive Report</topic><topic>Child</topic><topic>Chronic Disease</topic><topic>Dimerization</topic><topic>Female</topic><topic>Genes, Dominant</topic><topic>Germ-Line Mutation</topic><topic>Granulocyte Colony-Stimulating Factor - pharmacology</topic><topic>Hematopoietic Stem Cell Transplantation</topic><topic>Humans</topic><topic>Leukocytosis - blood</topic><topic>Leukocytosis - genetics</topic><topic>Male</topic><topic>Mice</topic><topic>Mice, Inbred NOD</topic><topic>Mice, Knockout</topic><topic>Mice, SCID</topic><topic>Middle Aged</topic><topic>Models, Molecular</topic><topic>Molecular Sequence Data</topic><topic>Myeloproliferative Disorders - genetics</topic><topic>Neutrophils - drug effects</topic><topic>Neutrophils - pathology</topic><topic>Point Mutation</topic><topic>Protein Structure, Tertiary</topic><topic>Receptors, Colony-Stimulating Factor - chemistry</topic><topic>Receptors, Colony-Stimulating Factor - genetics</topic><topic>Recombinant Proteins</topic><topic>Transplantation, Heterologous</topic><topic>Transplantation, Isogeneic</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Plo, Isabelle</creatorcontrib><creatorcontrib>Zhang, Yanyan</creatorcontrib><creatorcontrib>Le Couédic, Jean-Pierre</creatorcontrib><creatorcontrib>Nakatake, Mayuka</creatorcontrib><creatorcontrib>Boulet, Jean-Michel</creatorcontrib><creatorcontrib>Itaya, Miki</creatorcontrib><creatorcontrib>Smith, Steven O</creatorcontrib><creatorcontrib>Debili, Najet</creatorcontrib><creatorcontrib>Constantinescu, Stefan N</creatorcontrib><creatorcontrib>Vainchenker, William</creatorcontrib><creatorcontrib>Louache, Fawzia</creatorcontrib><creatorcontrib>de Botton, Stéphane</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>The Journal of experimental medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Plo, Isabelle</au><au>Zhang, Yanyan</au><au>Le Couédic, Jean-Pierre</au><au>Nakatake, Mayuka</au><au>Boulet, Jean-Michel</au><au>Itaya, Miki</au><au>Smith, Steven O</au><au>Debili, Najet</au><au>Constantinescu, Stefan N</au><au>Vainchenker, William</au><au>Louache, Fawzia</au><au>de Botton, Stéphane</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia</atitle><jtitle>The Journal of experimental medicine</jtitle><addtitle>J Exp Med</addtitle><date>2009-08-03</date><risdate>2009</risdate><volume>206</volume><issue>8</issue><spage>1701</spage><epage>1707</epage><pages>1701-1707</pages><issn>0022-1007</issn><eissn>1540-9538</eissn><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.</abstract><cop>United States</cop><pub>The Rockefeller University Press</pub><pmid>19620628</pmid><doi>10.1084/jem.20090693</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Aged Aged, 80 and over Amino Acid Substitution Animals Beclomethasone Brief Definitive Report Child Chronic Disease Dimerization Female Genes, Dominant Germ-Line Mutation Granulocyte Colony-Stimulating Factor - pharmacology Hematopoietic Stem Cell Transplantation Humans Leukocytosis - blood Leukocytosis - genetics Male Mice Mice, Inbred NOD Mice, Knockout Mice, SCID Middle Aged Models, Molecular Molecular Sequence Data Myeloproliferative Disorders - genetics Neutrophils - drug effects Neutrophils - pathology Point Mutation Protein Structure, Tertiary Receptors, Colony-Stimulating Factor - chemistry Receptors, Colony-Stimulating Factor - genetics Recombinant Proteins Transplantation, Heterologous Transplantation, Isogeneic Young Adult |
| title | An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia |
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