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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response</title><author><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I" last="Rice">Gillian I. Rice</name><affiliation><nlm:aff id="A1">Academic Unit of Medical Genetics, University of Manchester, Manchester, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Bond, Jacquelyn" sort="Bond, Jacquelyn" uniqKey="Bond J" first="Jacquelyn" last="Bond">Jacquelyn Bond</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Asipu, Aruna" sort="Asipu, Aruna" uniqKey="Asipu A" first="Aruna" last="Asipu">Aruna Asipu</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Brunette, Rebecca L" sort="Brunette, Rebecca L" uniqKey="Brunette R" first="Rebecca L" last="Brunette">Rebecca L. Brunette</name><affiliation><nlm:aff id="A3">Department of Immunology, University of Washington, Seattle, USA</nlm:aff></affiliation></author><author><name sortKey="Manfield, Iain W" sort="Manfield, Iain W" uniqKey="Manfield I" first="Iain W" last="Manfield">Iain W. Manfield</name><affiliation><nlm:aff id="A4">JIF Centre for Biomolecular Interactions, Astbury Centre for Structural Molecular Biology, Manton Building, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Carr, Ian M" sort="Carr, Ian M" uniqKey="Carr I" first="Ian M" last="Carr">Ian M. Carr</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Fuller, Jonathan C" sort="Fuller, Jonathan C" uniqKey="Fuller J" first="Jonathan C" last="Fuller">Jonathan C. Fuller</name><affiliation><nlm:aff id="A4">JIF Centre for Biomolecular Interactions, Astbury Centre for Structural Molecular Biology, Manton Building, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Jackson, Richard M" sort="Jackson, Richard M" uniqKey="Jackson R" first="Richard M" last="Jackson">Richard M. Jackson</name><affiliation><nlm:aff id="A4">JIF Centre for Biomolecular Interactions, Astbury Centre for Structural Molecular Biology, Manton Building, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Lamb, Teresa" sort="Lamb, Teresa" uniqKey="Lamb T" first="Teresa" last="Lamb">Teresa Lamb</name><affiliation><nlm:aff id="A5">DNA Laboratory, Yorkshire Regional Genetics Service, Ashley Wing, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Briggs, Tracy A" sort="Briggs, Tracy A" uniqKey="Briggs T" first="Tracy A" last="Briggs">Tracy A. Briggs</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Ali, Manir" sort="Ali, Manir" uniqKey="Ali M" first="Manir" last="Ali">Manir Ali</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Gornall, Hannah" sort="Gornall, Hannah" uniqKey="Gornall H" first="Hannah" last="Gornall">Hannah Gornall</name><affiliation><nlm:aff id="A1">Academic Unit of Medical Genetics, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Couthard, Lydia R" sort="Couthard, Lydia R" uniqKey="Couthard L" first="Lydia R" last="Couthard">Lydia R. Couthard</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Aeby, Alec" sort="Aeby, Alec" uniqKey="Aeby A" first="Alec" last="Aeby">Alec Aeby</name><affiliation><nlm:aff id="A6">Department of Paediatric Neurology, Erasme Hospital-ULB, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Attard Montalto, Simon P" sort="Attard Montalto, Simon P" uniqKey="Attard Montalto S" first="Simon P" last="Attard-Montalto">Simon P. Attard-Montalto</name><affiliation><nlm:aff id="A7">Department of Paediatrics, The Medical School, Mater Dei Hospital, Tal-Qroqq, Malta</nlm:aff></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation><nlm:aff id="A8">Unit of Molecular Medicine and Neuromuscular Disorders, Bambino Gesù Children’s Hospital, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name><affiliation><nlm:aff id="A9">Department of Dermatology, Université Paris V René Desartes, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Brockmann, Knut" sort="Brockmann, Knut" uniqKey="Brockmann K" first="Knut" last="Brockmann">Knut Brockmann</name><affiliation><nlm:aff id="A10">Pediatrics and Pediatric Neurology, Georg August University, Goettingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Brueton, Louise A" sort="Brueton, Louise A" uniqKey="Brueton L" first="Louise A" last="Brueton">Louise A. Brueton</name><affiliation><nlm:aff id="A11">Clinical Genetics Unit, Birmingham Women’s Hospital, Edgbaston, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Corry, Peter C" sort="Corry, Peter C" uniqKey="Corry P" first="Peter C" last="Corry">Peter C. Corry</name><affiliation><nlm:aff id="A12">Bradford Child Development Centre, St. Luke’s Hospital, Little Horton Lane, Bradford, UK</nlm:aff></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation><nlm:aff id="A13">APHP, Paediatric Neurology, Hôpital Necker, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation><nlm:aff id="A14">Department of Child Neurology and Psychiatry, IRCCS Institute of Neurology, “C. Mondino” Foundation, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Cazorla, Angels Garcia" sort="Cazorla, Angels Garcia" uniqKey="Cazorla A" first="Angels Garcia" last="Cazorla">Angels Garcia Cazorla</name><affiliation><nlm:aff id="A15">Neurology Department, Hospital Sant Joan de Déu, Esplugues, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Gener, Blanca" sort="Gener, Blanca" uniqKey="Gener B" first="Blanca" last="Gener">Blanca Gener</name><affiliation><nlm:aff id="A16">Clinical Genetics Unit-Department of Paediatrics, Hospital de Cruces, Baracaldo, Vizcaya, Spain</nlm:aff></affiliation></author><author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C J" last="Hamel">Ben C J. Hamel</name><affiliation><nlm:aff id="A17">Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Heiberg, Arvid" sort="Heiberg, Arvid" uniqKey="Heiberg A" first="Arvid" last="Heiberg">Arvid Heiberg</name><affiliation><nlm:aff id="A18">Department of Medical Genetics, Rikshospitalet, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Hunter, Matthew" sort="Hunter, Matthew" uniqKey="Hunter M" first="Matthew" last="Hunter">Matthew Hunter</name><affiliation><nlm:aff id="A19">Genetic Health, Victorian Clinical Genetics Service, Royal Children’s Hospital, Parkville, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Van Der Knaap, Marjo S" sort="Van Der Knaap, Marjo S" uniqKey="Van Der Knaap M" first="Marjo S" last="Van Der Knaap">Marjo S. Van Der Knaap</name><affiliation><nlm:aff id="A20">Department of Pediatrics/Child Neurology, VU University Medical Center, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><affiliation><nlm:aff id="A21">Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff></affiliation></author><author><name sortKey="Lagae, Lieven" sort="Lagae, Lieven" uniqKey="Lagae L" first="Lieven" last="Lagae">Lieven Lagae</name><affiliation><nlm:aff id="A22">Paediatric Neurology, University Hospitals of Gasthuisberg, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Landrieu, Pierre G" sort="Landrieu, Pierre G" uniqKey="Landrieu P" first="Pierre G" last="Landrieu">Pierre G. Landrieu</name><affiliation><nlm:aff id="A23">Pediatric Neurology Department, CHU Paris Sud-Hôpital, Bicêtre, France</nlm:aff></affiliation></author><author><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M" last="Lourenco">Charles M. Lourenco</name><affiliation><nlm:aff id="A24">Neurogenetics Unit, Medical Genetics Service, Hospital das Clinicas de Ribeirao Preto, School of Medicine of Ribeirao Preto, University of Sao Paulo, Campus Universitario, Monte Alegre, Ribeirão Preto–SP, Brazil</nlm:aff></affiliation></author><author><name sortKey="Marom, Daphna" sort="Marom, Daphna" uniqKey="Marom D" first="Daphna" last="Marom">Daphna Marom</name><affiliation><nlm:aff id="A25">The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach-Tikva, Israel</nlm:aff></affiliation></author><author><name sortKey="Mcdermott, Michael F" sort="Mcdermott, Michael F" uniqKey="Mcdermott M" first="Michael F" last="Mcdermott">Michael F. Mcdermott</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Van Der Merwe, William" sort="Van Der Merwe, William" uniqKey="Van Der Merwe W" first="William" last="Van Der Merwe">William Van Der Merwe</name><affiliation><nlm:aff id="A26">Department of Paediatrics, Nobles Hospital, Strang, Braddan, Isle of Man, UK</nlm:aff></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation><nlm:aff id="A14">Department of Child Neurology and Psychiatry, IRCCS Institute of Neurology, “C. Mondino” Foundation, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Prendiville, Julie S" sort="Prendiville, Julie S" uniqKey="Prendiville J" first="Julie S" last="Prendiville">Julie S. Prendiville</name><affiliation><nlm:aff id="A27">British Columbia’s Children’s Hospital, Vancouver, British Columbia, Canada</nlm:aff></affiliation></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><affiliation><nlm:aff id="A28">Department of Paediatrics, Rikshospitalet University Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Shalev, Stavit A" sort="Shalev, Stavit A" uniqKey="Shalev S" first="Stavit A" last="Shalev">Stavit A. Shalev</name><affiliation><nlm:aff id="A29">The Genetic Institute, Ha’Emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Soler, Doriette M" sort="Soler, Doriette M" uniqKey="Soler D" first="Doriette M" last="Soler">Doriette M. Soler</name><affiliation><nlm:aff id="A7">Department of Paediatrics, The Medical School, Mater Dei Hospital, Tal-Qroqq, Malta</nlm:aff></affiliation></author><author><name sortKey="Shinawi, Marwan" sort="Shinawi, Marwan" uniqKey="Shinawi M" first="Marwan" last="Shinawi">Marwan Shinawi</name><affiliation><nlm:aff id="A30">Department of Molecular and Human Genetics-T619, Baylor College of Medicine, Houston, Texas, USA</nlm:aff></affiliation></author><author><name sortKey="Spiegel, Ronen" sort="Spiegel, Ronen" uniqKey="Spiegel R" first="Ronen" last="Spiegel">Ronen Spiegel</name><affiliation><nlm:aff id="A29">The Genetic Institute, Ha’Emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Tan, Tiong Y" sort="Tan, Tiong Y" uniqKey="Tan T" first="Tiong Y" last="Tan">Tiong Y. Tan</name><affiliation><nlm:aff id="A31">Genetic Health Services Victoria, Murdoch Children’s Research Institute, Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation><nlm:aff id="A32">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff></affiliation></author><author><name sortKey="Wakeling, Emma L" sort="Wakeling, Emma L" uniqKey="Wakeling E" first="Emma L" last="Wakeling">Emma L. Wakeling</name><affiliation><nlm:aff id="A33">The Kennedy Galton Centre, North West London Hospitals NHS Trust, Harrow, UK</nlm:aff></affiliation></author><author><name sortKey="Wassmer, Evangeline" sort="Wassmer, Evangeline" uniqKey="Wassmer E" first="Evangeline" last="Wassmer">Evangeline Wassmer</name><affiliation><nlm:aff id="A34">Neurology Department, Birmingham Children’s Hospital, Steelhouse Lane, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Whittaker, Elizabeth" sort="Whittaker, Elizabeth" uniqKey="Whittaker E" first="Elizabeth" last="Whittaker">Elizabeth Whittaker</name><affiliation><nlm:aff id="A35">Department of Paediatrics, Imperial College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><affiliation><nlm:aff id="A36">Université Paris Descartes, Hôpital Cochin-St. Vincent de Paul, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stetson, Daniel B" sort="Stetson, Daniel B" uniqKey="Stetson D" first="Daniel B" last="Stetson">Daniel B. Stetson</name><affiliation><nlm:aff id="A3">Department of Immunology, University of Washington, Seattle, USA</nlm:aff></affiliation></author><author><name sortKey="Bonthron, David T" sort="Bonthron, David T" uniqKey="Bonthron D" first="David T" last="Bonthron">David T. Bonthron</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><affiliation><nlm:aff id="A1">Academic Unit of Medical Genetics, University of Manchester, Manchester, UK</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">19525956</idno><idno type="pmc">4154505</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154505</idno><idno type="RBID">PMC:4154505</idno><idno type="doi">10.1038/ng.373</idno><date when="2009">2009</date><idno type="wicri:Area/Pmc/Corpus">002125</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002125</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response</title><author><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I" last="Rice">Gillian I. Rice</name><affiliation><nlm:aff id="A1">Academic Unit of Medical Genetics, University of Manchester, Manchester, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Bond, Jacquelyn" sort="Bond, Jacquelyn" uniqKey="Bond J" first="Jacquelyn" last="Bond">Jacquelyn Bond</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Asipu, Aruna" sort="Asipu, Aruna" uniqKey="Asipu A" first="Aruna" last="Asipu">Aruna Asipu</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Brunette, Rebecca L" sort="Brunette, Rebecca L" uniqKey="Brunette R" first="Rebecca L" last="Brunette">Rebecca L. Brunette</name><affiliation><nlm:aff id="A3">Department of Immunology, University of Washington, Seattle, USA</nlm:aff></affiliation></author><author><name sortKey="Manfield, Iain W" sort="Manfield, Iain W" uniqKey="Manfield I" first="Iain W" last="Manfield">Iain W. Manfield</name><affiliation><nlm:aff id="A4">JIF Centre for Biomolecular Interactions, Astbury Centre for Structural Molecular Biology, Manton Building, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Carr, Ian M" sort="Carr, Ian M" uniqKey="Carr I" first="Ian M" last="Carr">Ian M. Carr</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Fuller, Jonathan C" sort="Fuller, Jonathan C" uniqKey="Fuller J" first="Jonathan C" last="Fuller">Jonathan C. Fuller</name><affiliation><nlm:aff id="A4">JIF Centre for Biomolecular Interactions, Astbury Centre for Structural Molecular Biology, Manton Building, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Jackson, Richard M" sort="Jackson, Richard M" uniqKey="Jackson R" first="Richard M" last="Jackson">Richard M. Jackson</name><affiliation><nlm:aff id="A4">JIF Centre for Biomolecular Interactions, Astbury Centre for Structural Molecular Biology, Manton Building, University of Leeds, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Lamb, Teresa" sort="Lamb, Teresa" uniqKey="Lamb T" first="Teresa" last="Lamb">Teresa Lamb</name><affiliation><nlm:aff id="A5">DNA Laboratory, Yorkshire Regional Genetics Service, Ashley Wing, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Briggs, Tracy A" sort="Briggs, Tracy A" uniqKey="Briggs T" first="Tracy A" last="Briggs">Tracy A. Briggs</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Ali, Manir" sort="Ali, Manir" uniqKey="Ali M" first="Manir" last="Ali">Manir Ali</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Gornall, Hannah" sort="Gornall, Hannah" uniqKey="Gornall H" first="Hannah" last="Gornall">Hannah Gornall</name><affiliation><nlm:aff id="A1">Academic Unit of Medical Genetics, University of Manchester, Manchester, UK</nlm:aff></affiliation></author><author><name sortKey="Couthard, Lydia R" sort="Couthard, Lydia R" uniqKey="Couthard L" first="Lydia R" last="Couthard">Lydia R. Couthard</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Aeby, Alec" sort="Aeby, Alec" uniqKey="Aeby A" first="Alec" last="Aeby">Alec Aeby</name><affiliation><nlm:aff id="A6">Department of Paediatric Neurology, Erasme Hospital-ULB, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Attard Montalto, Simon P" sort="Attard Montalto, Simon P" uniqKey="Attard Montalto S" first="Simon P" last="Attard-Montalto">Simon P. Attard-Montalto</name><affiliation><nlm:aff id="A7">Department of Paediatrics, The Medical School, Mater Dei Hospital, Tal-Qroqq, Malta</nlm:aff></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation><nlm:aff id="A8">Unit of Molecular Medicine and Neuromuscular Disorders, Bambino Gesù Children’s Hospital, Rome, Italy</nlm:aff></affiliation></author><author><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name><affiliation><nlm:aff id="A9">Department of Dermatology, Université Paris V René Desartes, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Brockmann, Knut" sort="Brockmann, Knut" uniqKey="Brockmann K" first="Knut" last="Brockmann">Knut Brockmann</name><affiliation><nlm:aff id="A10">Pediatrics and Pediatric Neurology, Georg August University, Goettingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Brueton, Louise A" sort="Brueton, Louise A" uniqKey="Brueton L" first="Louise A" last="Brueton">Louise A. Brueton</name><affiliation><nlm:aff id="A11">Clinical Genetics Unit, Birmingham Women’s Hospital, Edgbaston, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Corry, Peter C" sort="Corry, Peter C" uniqKey="Corry P" first="Peter C" last="Corry">Peter C. Corry</name><affiliation><nlm:aff id="A12">Bradford Child Development Centre, St. Luke’s Hospital, Little Horton Lane, Bradford, UK</nlm:aff></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation><nlm:aff id="A13">APHP, Paediatric Neurology, Hôpital Necker, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation><nlm:aff id="A14">Department of Child Neurology and Psychiatry, IRCCS Institute of Neurology, “C. Mondino” Foundation, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Cazorla, Angels Garcia" sort="Cazorla, Angels Garcia" uniqKey="Cazorla A" first="Angels Garcia" last="Cazorla">Angels Garcia Cazorla</name><affiliation><nlm:aff id="A15">Neurology Department, Hospital Sant Joan de Déu, Esplugues, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Gener, Blanca" sort="Gener, Blanca" uniqKey="Gener B" first="Blanca" last="Gener">Blanca Gener</name><affiliation><nlm:aff id="A16">Clinical Genetics Unit-Department of Paediatrics, Hospital de Cruces, Baracaldo, Vizcaya, Spain</nlm:aff></affiliation></author><author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C J" last="Hamel">Ben C J. Hamel</name><affiliation><nlm:aff id="A17">Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Heiberg, Arvid" sort="Heiberg, Arvid" uniqKey="Heiberg A" first="Arvid" last="Heiberg">Arvid Heiberg</name><affiliation><nlm:aff id="A18">Department of Medical Genetics, Rikshospitalet, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Hunter, Matthew" sort="Hunter, Matthew" uniqKey="Hunter M" first="Matthew" last="Hunter">Matthew Hunter</name><affiliation><nlm:aff id="A19">Genetic Health, Victorian Clinical Genetics Service, Royal Children’s Hospital, Parkville, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Van Der Knaap, Marjo S" sort="Van Der Knaap, Marjo S" uniqKey="Van Der Knaap M" first="Marjo S" last="Van Der Knaap">Marjo S. Van Der Knaap</name><affiliation><nlm:aff id="A20">Department of Pediatrics/Child Neurology, VU University Medical Center, Amsterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Kumar, Ram" sort="Kumar, Ram" uniqKey="Kumar R" first="Ram" last="Kumar">Ram Kumar</name><affiliation><nlm:aff id="A21">Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff></affiliation></author><author><name sortKey="Lagae, Lieven" sort="Lagae, Lieven" uniqKey="Lagae L" first="Lieven" last="Lagae">Lieven Lagae</name><affiliation><nlm:aff id="A22">Paediatric Neurology, University Hospitals of Gasthuisberg, Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Landrieu, Pierre G" sort="Landrieu, Pierre G" uniqKey="Landrieu P" first="Pierre G" last="Landrieu">Pierre G. Landrieu</name><affiliation><nlm:aff id="A23">Pediatric Neurology Department, CHU Paris Sud-Hôpital, Bicêtre, France</nlm:aff></affiliation></author><author><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M" last="Lourenco">Charles M. Lourenco</name><affiliation><nlm:aff id="A24">Neurogenetics Unit, Medical Genetics Service, Hospital das Clinicas de Ribeirao Preto, School of Medicine of Ribeirao Preto, University of Sao Paulo, Campus Universitario, Monte Alegre, Ribeirão Preto–SP, Brazil</nlm:aff></affiliation></author><author><name sortKey="Marom, Daphna" sort="Marom, Daphna" uniqKey="Marom D" first="Daphna" last="Marom">Daphna Marom</name><affiliation><nlm:aff id="A25">The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach-Tikva, Israel</nlm:aff></affiliation></author><author><name sortKey="Mcdermott, Michael F" sort="Mcdermott, Michael F" uniqKey="Mcdermott M" first="Michael F" last="Mcdermott">Michael F. Mcdermott</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Van Der Merwe, William" sort="Van Der Merwe, William" uniqKey="Van Der Merwe W" first="William" last="Van Der Merwe">William Van Der Merwe</name><affiliation><nlm:aff id="A26">Department of Paediatrics, Nobles Hospital, Strang, Braddan, Isle of Man, UK</nlm:aff></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation><nlm:aff id="A14">Department of Child Neurology and Psychiatry, IRCCS Institute of Neurology, “C. Mondino” Foundation, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Prendiville, Julie S" sort="Prendiville, Julie S" uniqKey="Prendiville J" first="Julie S" last="Prendiville">Julie S. Prendiville</name><affiliation><nlm:aff id="A27">British Columbia’s Children’s Hospital, Vancouver, British Columbia, Canada</nlm:aff></affiliation></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><affiliation><nlm:aff id="A28">Department of Paediatrics, Rikshospitalet University Hospital, Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Shalev, Stavit A" sort="Shalev, Stavit A" uniqKey="Shalev S" first="Stavit A" last="Shalev">Stavit A. Shalev</name><affiliation><nlm:aff id="A29">The Genetic Institute, Ha’Emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Soler, Doriette M" sort="Soler, Doriette M" uniqKey="Soler D" first="Doriette M" last="Soler">Doriette M. Soler</name><affiliation><nlm:aff id="A7">Department of Paediatrics, The Medical School, Mater Dei Hospital, Tal-Qroqq, Malta</nlm:aff></affiliation></author><author><name sortKey="Shinawi, Marwan" sort="Shinawi, Marwan" uniqKey="Shinawi M" first="Marwan" last="Shinawi">Marwan Shinawi</name><affiliation><nlm:aff id="A30">Department of Molecular and Human Genetics-T619, Baylor College of Medicine, Houston, Texas, USA</nlm:aff></affiliation></author><author><name sortKey="Spiegel, Ronen" sort="Spiegel, Ronen" uniqKey="Spiegel R" first="Ronen" last="Spiegel">Ronen Spiegel</name><affiliation><nlm:aff id="A29">The Genetic Institute, Ha’Emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Tan, Tiong Y" sort="Tan, Tiong Y" uniqKey="Tan T" first="Tiong Y" last="Tan">Tiong Y. Tan</name><affiliation><nlm:aff id="A31">Genetic Health Services Victoria, Murdoch Children’s Research Institute, Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, Victoria, Australia</nlm:aff></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation><nlm:aff id="A32">Department of Neurology, Children’s National Medical Center, Washington, DC, USA</nlm:aff></affiliation></author><author><name sortKey="Wakeling, Emma L" sort="Wakeling, Emma L" uniqKey="Wakeling E" first="Emma L" last="Wakeling">Emma L. Wakeling</name><affiliation><nlm:aff id="A33">The Kennedy Galton Centre, North West London Hospitals NHS Trust, Harrow, UK</nlm:aff></affiliation></author><author><name sortKey="Wassmer, Evangeline" sort="Wassmer, Evangeline" uniqKey="Wassmer E" first="Evangeline" last="Wassmer">Evangeline Wassmer</name><affiliation><nlm:aff id="A34">Neurology Department, Birmingham Children’s Hospital, Steelhouse Lane, Birmingham, UK</nlm:aff></affiliation></author><author><name sortKey="Whittaker, Elizabeth" sort="Whittaker, Elizabeth" uniqKey="Whittaker E" first="Elizabeth" last="Whittaker">Elizabeth Whittaker</name><affiliation><nlm:aff id="A35">Department of Paediatrics, Imperial College London, London, UK</nlm:aff></affiliation></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><affiliation><nlm:aff id="A36">Université Paris Descartes, Hôpital Cochin-St. Vincent de Paul, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stetson, Daniel B" sort="Stetson, Daniel B" uniqKey="Stetson D" first="Daniel B" last="Stetson">Daniel B. Stetson</name><affiliation><nlm:aff id="A3">Department of Immunology, University of Washington, Seattle, USA</nlm:aff></affiliation></author><author><name sortKey="Bonthron, David T" sort="Bonthron, David T" uniqKey="Bonthron D" first="David T" last="Bonthron">David T. Bonthron</name><affiliation><nlm:aff id="A2">Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><affiliation><nlm:aff id="A1">Academic Unit of Medical Genetics, University of Manchester, Manchester, UK</nlm:aff></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in <italic>TREX1</italic> and genes encoding the RNASEH2 complex and studies of the function of TREX1 in DNA metabolism have defined a previously unknown mechanism for the initiation of autoimmunity by interferon-stimulatory nucleic acid. Here we describe mutations in <italic>SAMHD1</italic> as the cause of AGS at the <italic>AGS5</italic> locus and present data to show that SAMHD1 may act as a negative regulator of the cell-intrinsic antiviral response.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9216904</journal-id><journal-id journal-id-type="pubmed-jr-id">2419</journal-id><journal-id journal-id-type="nlm-ta">Nat Genet</journal-id><journal-id journal-id-type="iso-abbrev">Nat. Genet.</journal-id><journal-title-group><journal-title>Nature genetics</journal-title></journal-title-group><issn pub-type="ppub">1061-4036</issn><issn pub-type="epub">1546-1718</issn></journal-meta><article-meta><article-id pub-id-type="pmid">19525956</article-id><article-id pub-id-type="pmc">4154505</article-id><article-id pub-id-type="doi">10.1038/ng.373</article-id><article-id pub-id-type="manuscript">NIHMS620572</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Rice</surname><given-names>Gillian I</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Bond</surname><given-names>Jacquelyn</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Asipu</surname><given-names>Aruna</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Brunette</surname><given-names>Rebecca L</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Manfield</surname><given-names>Iain W</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Carr</surname><given-names>Ian M</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Fuller</surname><given-names>Jonathan C</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Jackson</surname><given-names>Richard M</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Lamb</surname><given-names>Teresa</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Briggs</surname><given-names>Tracy A</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Ali</surname><given-names>Manir</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Gornall</surname><given-names>Hannah</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Couthard</surname><given-names>Lydia R</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Aeby</surname><given-names>Alec</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Attard-Montalto</surname><given-names>Simon P</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Bertini</surname><given-names>Enrico</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Bodemer</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Brockmann</surname><given-names>Knut</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Brueton</surname><given-names>Louise A</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Corry</surname><given-names>Peter C</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Desguerre</surname><given-names>Isabelle</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Fazzi</surname><given-names>Elisa</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Cazorla</surname><given-names>Angels Garcia</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Gener</surname><given-names>Blanca</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Hamel</surname><given-names>Ben C J</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Heiberg</surname><given-names>Arvid</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Hunter</surname><given-names>Matthew</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>van der Knaap</surname><given-names>Marjo S</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Kumar</surname><given-names>Ram</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Lagae</surname><given-names>Lieven</given-names></name><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Landrieu</surname><given-names>Pierre G</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Lourenco</surname><given-names>Charles M</given-names></name><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Marom</surname><given-names>Daphna</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>McDermott</surname><given-names>Michael F</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>van der Merwe</surname><given-names>William</given-names></name><xref ref-type="aff" rid="A26">26</xref></contrib><contrib contrib-type="author"><name><surname>Orcesi</surname><given-names>Simona</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Prendiville</surname><given-names>Julie S</given-names></name><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Rasmussen</surname><given-names>Magnhild</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Shalev</surname><given-names>Stavit A</given-names></name><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Soler</surname><given-names>Doriette M</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Shinawi</surname><given-names>Marwan</given-names></name><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Spiegel</surname><given-names>Ronen</given-names></name><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Tan</surname><given-names>Tiong Y</given-names></name><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>Vanderver</surname><given-names>Adeline</given-names></name><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Wakeling</surname><given-names>Emma L</given-names></name><xref ref-type="aff" rid="A33">33</xref></contrib><contrib contrib-type="author"><name><surname>Wassmer</surname><given-names>Evangeline</given-names></name><xref ref-type="aff" rid="A34">34</xref></contrib><contrib contrib-type="author"><name><surname>Whittaker</surname><given-names>Elizabeth</given-names></name><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Lebon</surname><given-names>Pierre</given-names></name><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Stetson</surname><given-names>Daniel B</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Bonthron</surname><given-names>David T</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Crow</surname><given-names>Yanick J</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>Academic Unit of Medical Genetics, University of Manchester, Manchester, UK</aff><aff id="A2"><label>2</label>Leeds Institute of Molecular Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK</aff><aff id="A3"><label>3</label>Department of Immunology, University of Washington, Seattle, USA</aff><aff id="A4"><label>4</label>JIF Centre for Biomolecular Interactions, Astbury Centre for Structural Molecular Biology, Manton Building, University of Leeds, Leeds, UK</aff><aff id="A5"><label>5</label>DNA Laboratory, Yorkshire Regional Genetics Service, Ashley Wing, St. James’s University Hospital, Leeds, UK</aff><aff id="A6"><label>6</label>Department of Paediatric Neurology, Erasme Hospital-ULB, Brussels, Belgium</aff><aff id="A7"><label>7</label>Department of Paediatrics, The Medical School, Mater Dei Hospital, Tal-Qroqq, Malta</aff><aff id="A8"><label>8</label>Unit of Molecular Medicine and Neuromuscular Disorders, Bambino Gesù Children’s Hospital, Rome, Italy</aff><aff id="A9"><label>9</label>Department of Dermatology, Université Paris V René Desartes, Paris, France</aff><aff id="A10"><label>10</label>Pediatrics and Pediatric Neurology, Georg August University, Goettingen, Germany</aff><aff id="A11"><label>11</label>Clinical Genetics Unit, Birmingham Women’s Hospital, Edgbaston, Birmingham, UK</aff><aff id="A12"><label>12</label>Bradford Child Development Centre, St. Luke’s Hospital, Little Horton Lane, Bradford, UK</aff><aff id="A13"><label>13</label>APHP, Paediatric Neurology, Hôpital Necker, Paris, France</aff><aff id="A14"><label>14</label>Department of Child Neurology and Psychiatry, IRCCS Institute of Neurology, “C. Mondino” Foundation, Pavia, Italy</aff><aff id="A15"><label>15</label>Neurology Department, Hospital Sant Joan de Déu, Esplugues, Barcelona, Spain</aff><aff id="A16"><label>16</label>Clinical Genetics Unit-Department of Paediatrics, Hospital de Cruces, Baracaldo, Vizcaya, Spain</aff><aff id="A17"><label>17</label>Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands</aff><aff id="A18"><label>18</label>Department of Medical Genetics, Rikshospitalet, Oslo, Norway</aff><aff id="A19"><label>19</label>Genetic Health, Victorian Clinical Genetics Service, Royal Children’s Hospital, Parkville, Victoria, Australia</aff><aff id="A20"><label>20</label>Department of Pediatrics/Child Neurology, VU University Medical Center, Amsterdam, The Netherlands</aff><aff id="A21"><label>21</label>Department of Neurology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</aff><aff id="A22"><label>22</label>Paediatric Neurology, University Hospitals of Gasthuisberg, Leuven, Belgium</aff><aff id="A23"><label>23</label>Pediatric Neurology Department, CHU Paris Sud-Hôpital, Bicêtre, France</aff><aff id="A24"><label>24</label>Neurogenetics Unit, Medical Genetics Service, Hospital das Clinicas de Ribeirao Preto, School of Medicine of Ribeirao Preto, University of Sao Paulo, Campus Universitario, Monte Alegre, Ribeirão Preto–SP, Brazil</aff><aff id="A25"><label>25</label>The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach-Tikva, Israel</aff><aff id="A26"><label>26</label>Department of Paediatrics, Nobles Hospital, Strang, Braddan, Isle of Man, UK</aff><aff id="A27"><label>27</label>British Columbia’s Children’s Hospital, Vancouver, British Columbia, Canada</aff><aff id="A28"><label>28</label>Department of Paediatrics, Rikshospitalet University Hospital, Oslo, Norway</aff><aff id="A29"><label>29</label>The Genetic Institute, Ha’Emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel</aff><aff id="A30"><label>30</label>Department of Molecular and Human Genetics-T619, Baylor College of Medicine, Houston, Texas, USA</aff><aff id="A31"><label>31</label>Genetic Health Services Victoria, Murdoch Children’s Research Institute, Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, Victoria, Australia</aff><aff id="A32"><label>32</label>Department of Neurology, Children’s National Medical Center, Washington, DC, USA</aff><aff id="A33"><label>33</label>The Kennedy Galton Centre, North West London Hospitals NHS Trust, Harrow, UK</aff><aff id="A34"><label>34</label>Neurology Department, Birmingham Children’s Hospital, Steelhouse Lane, Birmingham, UK</aff><aff id="A35"><label>35</label>Department of Paediatrics, Imperial College London, London, UK</aff><aff id="A36"><label>36</label>Université Paris Descartes, Hôpital Cochin-St. Vincent de Paul, Paris, France</aff><author-notes><corresp id="cor1">Correspondence should be addressed to Y.J.C. (<email>yanickcrow@mac.com</email>)</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>15</day><month>8</month><year>2014</year></pub-date><pub-date pub-type="epub"><day>14</day><month>6</month><year>2009</year></pub-date><pub-date pub-type="ppub"><month>7</month><year>2009</year></pub-date><pub-date pub-type="pmc-release"><day>04</day><month>9</month><year>2014</year></pub-date><volume>41</volume><issue>7</issue><fpage>829</fpage><lpage>832</lpage><pmc-comment>elocation-id from pubmed: 10.1038/ng.373</pmc-comment>
<permissions><copyright-statement>© 2009 Nature America, Inc. All rights reserved.</copyright-statement><copyright-year>2009</copyright-year></permissions><abstract><p id="P1">Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in <italic>TREX1</italic> and genes encoding the RNASEH2 complex and studies of the function of TREX1 in DNA metabolism have defined a previously unknown mechanism for the initiation of autoimmunity by interferon-stimulatory nucleic acid. Here we describe mutations in <italic>SAMHD1</italic> as the cause of AGS at the <italic>AGS5</italic> locus and present data to show that SAMHD1 may act as a negative regulator of the cell-intrinsic antiviral response.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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