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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency</title><author><name sortKey="Cottineau, Julien" sort="Cottineau, Julien" uniqKey="Cottineau J" first="Julien" last="Cottineau">Julien Cottineau</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Kottemann, Molly C" sort="Kottemann, Molly C" uniqKey="Kottemann M" first="Molly C." last="Kottemann">Molly C. Kottemann</name><affiliation><nlm:aff id="A3">Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Lach, Francis P" sort="Lach, Francis P" uniqKey="Lach F" first="Francis P." last="Lach">Francis P. Lach</name><affiliation><nlm:aff id="A3">Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Kang, Young Hoon" sort="Kang, Young Hoon" uniqKey="Kang Y" first="Young-Hoon" last="Kang">Young-Hoon Kang</name><affiliation><nlm:aff id="A4">Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Vely, Frederic" sort="Vely, Frederic" uniqKey="Vely F" first="Frédéric" last="Vély">Frédéric Vély</name><affiliation><nlm:aff id="A5">Aix Marseille University, CNRS, INSERM, CIML, Marseille, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Assistance Publique–Hôpitaux de Marseille, Hôpital de la Conception, Service d’Immunologie, Marseille, France.</nlm:aff></affiliation></author><author><name sortKey="Deenick, Elissa K" sort="Deenick, Elissa K" uniqKey="Deenick E" first="Elissa K." last="Deenick">Elissa K. Deenick</name><affiliation><nlm:aff id="A7">Immunology Division, Garvan Institute of Medical Research, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Lazarov, Tomi" sort="Lazarov, Tomi" uniqKey="Lazarov T" first="Tomi" last="Lazarov">Tomi Lazarov</name><affiliation><nlm:aff id="A8">Centre for Molecular and Cellular Biology of Inflammation (CMCBI), King’s College London, London, United Kingdom.</nlm:aff></affiliation></author><author><name sortKey="Gineau, Laure" sort="Gineau, Laure" uniqKey="Gineau L" first="Laure" last="Gineau">Laure Gineau</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Wang, Yi" sort="Wang, Yi" uniqKey="Wang Y" first="Yi" last="Wang">Yi Wang</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Farina, Andrea" sort="Farina, Andrea" uniqKey="Farina A" first="Andrea" last="Farina">Andrea Farina</name><affiliation><nlm:aff id="A4">Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Chansel, Marie" sort="Chansel, Marie" uniqKey="Chansel M" first="Marie" last="Chansel">Marie Chansel</name><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Laboratory of Genome Dynamics in the Immune System, INSERM U1163, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Lorenzo, Lazaro" sort="Lorenzo, Lazaro" uniqKey="Lorenzo L" first="Lazaro" last="Lorenzo">Lazaro Lorenzo</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Piperoglou, Christelle" sort="Piperoglou, Christelle" uniqKey="Piperoglou C" first="Christelle" last="Piperoglou">Christelle Piperoglou</name><affiliation><nlm:aff id="A5">Aix Marseille University, CNRS, INSERM, CIML, Marseille, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Assistance Publique–Hôpitaux de Marseille, Hôpital de la Conception, Service d’Immunologie, Marseille, France.</nlm:aff></affiliation></author><author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S." last="Ma">Cindy S. Ma</name><affiliation><nlm:aff id="A7">Immunology Division, Garvan Institute of Medical Research, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Bioinformatics Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Itan, Yuval" sort="Itan, Yuval" uniqKey="Itan Y" first="Yuval" last="Itan">Yuval Itan</name><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Jabot Hanin, Fabienne" sort="Jabot Hanin, Fabienne" uniqKey="Jabot Hanin F" first="Fabienne" last="Jabot-Hanin">Fabienne Jabot-Hanin</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="A12">Center for the Study of Primary Immunodeficiencies</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="A12">Center for the Study of Primary Immunodeficiencies</nlm:aff></affiliation></author><author><name sortKey="Eidenschenk, Celine" sort="Eidenschenk, Celine" uniqKey="Eidenschenk C" first="Céline" last="Eidenschenk">Céline Eidenschenk</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Boucherit, Soraya" sort="Boucherit, Soraya" uniqKey="Boucherit S" first="Soraya" last="Boucherit">Soraya Boucherit</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Aladjidi, Nathalie" sort="Aladjidi, Nathalie" uniqKey="Aladjidi N" first="Nathalie" last="Aladjidi">Nathalie Aladjidi</name><affiliation><nlm:aff id="A14">Pediatric Hemato-Oncology Unit, Bordeaux Hospital, Bordeaux, France.</nlm:aff></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation><nlm:aff id="A15">Bordeaux University, EA4676, Laboratoire de Maladies Rares: Génétique et Métabolisme (MRGM), and Centre Hospitalier Universitaire (CHU) de Bordeaux, Medical Genetics, Bordeaux, France.</nlm:aff></affiliation></author><author><name sortKey="Barat, Pascal" sort="Barat, Pascal" uniqKey="Barat P" first="Pascal" last="Barat">Pascal Barat</name><affiliation><nlm:aff id="A16">Pediatric Endocrinology and Diabetology Unit, Clinical Investigation Center (CIC 05), Bordeaux Hospital, Bordeaux, France.</nlm:aff></affiliation></author><author><name sortKey="Qasim, Waseem" sort="Qasim, Waseem" uniqKey="Qasim W" first="Waseem" last="Qasim">Waseem Qasim</name><affiliation><nlm:aff id="A17">Molecular and Cellular Immunology, Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.</nlm:aff></affiliation></author><author><name sortKey="Hurst, Jane A" sort="Hurst, Jane A" uniqKey="Hurst J" first="Jane A." last="Hurst">Jane A. Hurst</name><affiliation><nlm:aff id="A18">North East Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom.</nlm:aff></affiliation></author><author><name sortKey="Pollard, Andrew J" sort="Pollard, Andrew J" uniqKey="Pollard A" first="Andrew J." last="Pollard">Andrew J. Pollard</name><affiliation><nlm:aff id="A19">Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford, United Kingdom.</nlm:aff></affiliation></author><author><name sortKey="Uhlig, Holm H" sort="Uhlig, Holm H" uniqKey="Uhlig H" first="Holm H." last="Uhlig">Holm H. Uhlig</name><affiliation><nlm:aff id="A19">Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford, United Kingdom.</nlm:aff></affiliation><affiliation><nlm:aff id="A20">Translational Gastroenterology Unit, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.</nlm:aff></affiliation></author><author><name sortKey="Fieschi, Claire" sort="Fieschi, Claire" uniqKey="Fieschi C" first="Claire" last="Fieschi">Claire Fieschi</name><affiliation><nlm:aff id="A21">Adult Immunopathology Unit, AP-HP, Saint-Louis Hospital, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Paris Diderot University, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Michon, Jean" sort="Michon, Jean" uniqKey="Michon J" first="Jean" last="Michon">Jean Michon</name><affiliation><nlm:aff id="A23">Department of Pediatric Oncology, Institut Curie, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Bermudez, Vladimir P" sort="Bermudez, Vladimir P" uniqKey="Bermudez V" first="Vladimir P." last="Bermudez">Vladimir P. Bermudez</name><affiliation><nlm:aff id="A4">Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="De Villartay, Jean Pierre" sort="De Villartay, Jean Pierre" uniqKey="De Villartay J" first="Jean-Pierre" last="De Villartay">Jean-Pierre De Villartay</name><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Laboratory of Genome Dynamics in the Immune System, INSERM U1163, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Geissmann, Frederic" sort="Geissmann, Frederic" uniqKey="Geissmann F" first="Frédéric" last="Geissmann">Frédéric Geissmann</name><affiliation><nlm:aff id="A8">Centre for Molecular and Cellular Biology of Inflammation (CMCBI), King’s College London, London, United Kingdom.</nlm:aff></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G." last="Tangye">Stuart G. Tangye</name><affiliation><nlm:aff id="A7">Immunology Division, Garvan Institute of Medical Research, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Hurwitz, Jerard" sort="Hurwitz, Jerard" uniqKey="Hurwitz J" first="Jerard" last="Hurwitz">Jerard Hurwitz</name><affiliation><nlm:aff id="A4">Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Vivier, Eric" sort="Vivier, Eric" uniqKey="Vivier E" first="Eric" last="Vivier">Eric Vivier</name><affiliation><nlm:aff id="A5">Aix Marseille University, CNRS, INSERM, CIML, Marseille, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Assistance Publique–Hôpitaux de Marseille, Hôpital de la Conception, Service d’Immunologie, Marseille, France.</nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Howard Hughes Medical Institute, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Smogorzewska, Agata" sort="Smogorzewska, Agata" uniqKey="Smogorzewska A" first="Agata" last="Smogorzewska">Agata Smogorzewska</name><affiliation><nlm:aff id="A3">Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Jouanguy, Emmanuelle" sort="Jouanguy, Emmanuelle" uniqKey="Jouanguy E" first="Emmanuelle" last="Jouanguy">Emmanuelle Jouanguy</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">28414293</idno><idno type="pmc">5409070</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409070</idno><idno type="RBID">PMC:5409070</idno><idno type="doi">10.1172/JCI90727</idno><date when="????">????</date><idno type="wicri:Area/Pmc/Corpus">001930</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001930</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency</title><author><name sortKey="Cottineau, Julien" sort="Cottineau, Julien" uniqKey="Cottineau J" first="Julien" last="Cottineau">Julien Cottineau</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Kottemann, Molly C" sort="Kottemann, Molly C" uniqKey="Kottemann M" first="Molly C." last="Kottemann">Molly C. Kottemann</name><affiliation><nlm:aff id="A3">Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Lach, Francis P" sort="Lach, Francis P" uniqKey="Lach F" first="Francis P." last="Lach">Francis P. Lach</name><affiliation><nlm:aff id="A3">Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Kang, Young Hoon" sort="Kang, Young Hoon" uniqKey="Kang Y" first="Young-Hoon" last="Kang">Young-Hoon Kang</name><affiliation><nlm:aff id="A4">Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Vely, Frederic" sort="Vely, Frederic" uniqKey="Vely F" first="Frédéric" last="Vély">Frédéric Vély</name><affiliation><nlm:aff id="A5">Aix Marseille University, CNRS, INSERM, CIML, Marseille, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Assistance Publique–Hôpitaux de Marseille, Hôpital de la Conception, Service d’Immunologie, Marseille, France.</nlm:aff></affiliation></author><author><name sortKey="Deenick, Elissa K" sort="Deenick, Elissa K" uniqKey="Deenick E" first="Elissa K." last="Deenick">Elissa K. Deenick</name><affiliation><nlm:aff id="A7">Immunology Division, Garvan Institute of Medical Research, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Lazarov, Tomi" sort="Lazarov, Tomi" uniqKey="Lazarov T" first="Tomi" last="Lazarov">Tomi Lazarov</name><affiliation><nlm:aff id="A8">Centre for Molecular and Cellular Biology of Inflammation (CMCBI), King’s College London, London, United Kingdom.</nlm:aff></affiliation></author><author><name sortKey="Gineau, Laure" sort="Gineau, Laure" uniqKey="Gineau L" first="Laure" last="Gineau">Laure Gineau</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Wang, Yi" sort="Wang, Yi" uniqKey="Wang Y" first="Yi" last="Wang">Yi Wang</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Farina, Andrea" sort="Farina, Andrea" uniqKey="Farina A" first="Andrea" last="Farina">Andrea Farina</name><affiliation><nlm:aff id="A4">Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Chansel, Marie" sort="Chansel, Marie" uniqKey="Chansel M" first="Marie" last="Chansel">Marie Chansel</name><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Laboratory of Genome Dynamics in the Immune System, INSERM U1163, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Lorenzo, Lazaro" sort="Lorenzo, Lazaro" uniqKey="Lorenzo L" first="Lazaro" last="Lorenzo">Lazaro Lorenzo</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Piperoglou, Christelle" sort="Piperoglou, Christelle" uniqKey="Piperoglou C" first="Christelle" last="Piperoglou">Christelle Piperoglou</name><affiliation><nlm:aff id="A5">Aix Marseille University, CNRS, INSERM, CIML, Marseille, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Assistance Publique–Hôpitaux de Marseille, Hôpital de la Conception, Service d’Immunologie, Marseille, France.</nlm:aff></affiliation></author><author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S." last="Ma">Cindy S. Ma</name><affiliation><nlm:aff id="A7">Immunology Division, Garvan Institute of Medical Research, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A10">Bioinformatics Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Itan, Yuval" sort="Itan, Yuval" uniqKey="Itan Y" first="Yuval" last="Itan">Yuval Itan</name><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Jabot Hanin, Fabienne" sort="Jabot Hanin, Fabienne" uniqKey="Jabot Hanin F" first="Fabienne" last="Jabot-Hanin">Fabienne Jabot-Hanin</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="A12">Center for the Study of Primary Immunodeficiencies</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="A12">Center for the Study of Primary Immunodeficiencies</nlm:aff></affiliation></author><author><name sortKey="Eidenschenk, Celine" sort="Eidenschenk, Celine" uniqKey="Eidenschenk C" first="Céline" last="Eidenschenk">Céline Eidenschenk</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Boucherit, Soraya" sort="Boucherit, Soraya" uniqKey="Boucherit S" first="Soraya" last="Boucherit">Soraya Boucherit</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Aladjidi, Nathalie" sort="Aladjidi, Nathalie" uniqKey="Aladjidi N" first="Nathalie" last="Aladjidi">Nathalie Aladjidi</name><affiliation><nlm:aff id="A14">Pediatric Hemato-Oncology Unit, Bordeaux Hospital, Bordeaux, France.</nlm:aff></affiliation></author><author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name><affiliation><nlm:aff id="A15">Bordeaux University, EA4676, Laboratoire de Maladies Rares: Génétique et Métabolisme (MRGM), and Centre Hospitalier Universitaire (CHU) de Bordeaux, Medical Genetics, Bordeaux, France.</nlm:aff></affiliation></author><author><name sortKey="Barat, Pascal" sort="Barat, Pascal" uniqKey="Barat P" first="Pascal" last="Barat">Pascal Barat</name><affiliation><nlm:aff id="A16">Pediatric Endocrinology and Diabetology Unit, Clinical Investigation Center (CIC 05), Bordeaux Hospital, Bordeaux, France.</nlm:aff></affiliation></author><author><name sortKey="Qasim, Waseem" sort="Qasim, Waseem" uniqKey="Qasim W" first="Waseem" last="Qasim">Waseem Qasim</name><affiliation><nlm:aff id="A17">Molecular and Cellular Immunology, Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.</nlm:aff></affiliation></author><author><name sortKey="Hurst, Jane A" sort="Hurst, Jane A" uniqKey="Hurst J" first="Jane A." last="Hurst">Jane A. Hurst</name><affiliation><nlm:aff id="A18">North East Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom.</nlm:aff></affiliation></author><author><name sortKey="Pollard, Andrew J" sort="Pollard, Andrew J" uniqKey="Pollard A" first="Andrew J." last="Pollard">Andrew J. Pollard</name><affiliation><nlm:aff id="A19">Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford, United Kingdom.</nlm:aff></affiliation></author><author><name sortKey="Uhlig, Holm H" sort="Uhlig, Holm H" uniqKey="Uhlig H" first="Holm H." last="Uhlig">Holm H. Uhlig</name><affiliation><nlm:aff id="A19">Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford, United Kingdom.</nlm:aff></affiliation><affiliation><nlm:aff id="A20">Translational Gastroenterology Unit, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.</nlm:aff></affiliation></author><author><name sortKey="Fieschi, Claire" sort="Fieschi, Claire" uniqKey="Fieschi C" first="Claire" last="Fieschi">Claire Fieschi</name><affiliation><nlm:aff id="A21">Adult Immunopathology Unit, AP-HP, Saint-Louis Hospital, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A22">Paris Diderot University, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Michon, Jean" sort="Michon, Jean" uniqKey="Michon J" first="Jean" last="Michon">Jean Michon</name><affiliation><nlm:aff id="A23">Department of Pediatric Oncology, Institut Curie, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Bermudez, Vladimir P" sort="Bermudez, Vladimir P" uniqKey="Bermudez V" first="Vladimir P." last="Bermudez">Vladimir P. Bermudez</name><affiliation><nlm:aff id="A4">Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="De Villartay, Jean Pierre" sort="De Villartay, Jean Pierre" uniqKey="De Villartay J" first="Jean-Pierre" last="De Villartay">Jean-Pierre De Villartay</name><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A9">Laboratory of Genome Dynamics in the Immune System, INSERM U1163, Paris, France.</nlm:aff></affiliation></author><author><name sortKey="Geissmann, Frederic" sort="Geissmann, Frederic" uniqKey="Geissmann F" first="Frédéric" last="Geissmann">Frédéric Geissmann</name><affiliation><nlm:aff id="A8">Centre for Molecular and Cellular Biology of Inflammation (CMCBI), King’s College London, London, United Kingdom.</nlm:aff></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G." last="Tangye">Stuart G. Tangye</name><affiliation><nlm:aff id="A7">Immunology Division, Garvan Institute of Medical Research, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</nlm:aff></affiliation></author><author><name sortKey="Hurwitz, Jerard" sort="Hurwitz, Jerard" uniqKey="Hurwitz J" first="Jerard" last="Hurwitz">Jerard Hurwitz</name><affiliation><nlm:aff id="A4">Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Vivier, Eric" sort="Vivier, Eric" uniqKey="Vivier E" first="Eric" last="Vivier">Eric Vivier</name><affiliation><nlm:aff id="A5">Aix Marseille University, CNRS, INSERM, CIML, Marseille, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Assistance Publique–Hôpitaux de Marseille, Hôpital de la Conception, Service d’Immunologie, Marseille, France.</nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Howard Hughes Medical Institute, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Smogorzewska, Agata" sort="Smogorzewska, Agata" uniqKey="Smogorzewska A" first="Agata" last="Smogorzewska">Agata Smogorzewska</name><affiliation><nlm:aff id="A3">Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author><author><name sortKey="Jouanguy, Emmanuelle" sort="Jouanguy, Emmanuelle" uniqKey="Jouanguy E" first="Emmanuelle" last="Jouanguy">Emmanuelle Jouanguy</name><affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff></affiliation><affiliation><nlm:aff id="A11">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</nlm:aff></affiliation></author></analytic><series><title level="j">The Journal of Clinical Investigation</title><idno type="ISSN">0021-9738</idno><idno type="eISSN">1558-8238</idno><imprint><date when="????">????</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied 5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic neutropenia, and NK cell deficiency. Four of the 5 patients also had postnatal growth retardation. The association of neutropenia and NK cell deficiency, which is unusual among primary immunodeficiencies and bone marrow failures, was due to a blockade in the bone marrow and was mildly symptomatic. We discovered compound heterozygous rare mutations in Go-Ichi-Ni-San (GINS) complex subunit 1 (<italic>GINS1</italic>, also known as <italic>PSF1</italic>) in the 5 patients. The GINS complex is essential for eukaryotic DNA replication, and homozygous null mutations of GINS component–encoding genes are embryonic lethal in mice. The patients’ fibroblasts displayed impaired GINS complex assembly, basal replication stress, impaired checkpoint signaling, defective cell cycle control, and genomic instability, which was rescued by WT <italic>GINS1</italic>. The residual levels of GINS1 activity reached 3% to 16% in patients’ cells, depending on their <italic>GINS1</italic> genotype, and correlated with the severity of growth retardation and the in vitro cellular phenotype. The levels of GINS1 activity did not influence the immunological phenotype, which was uniform. Autosomal recessive, partial GINS1 deficiency impairs DNA replication and underlies intra-uterine (and postnatal) growth retardation, chronic neutropenia, and NK cell deficiency.</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>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Clin Invest</journal-id><journal-id journal-id-type="iso-abbrev">J. Clin. Invest</journal-id><journal-id journal-id-type="publisher-id">J Clin Invest</journal-id><journal-title-group><journal-title>The Journal of Clinical Investigation</journal-title></journal-title-group><issn pub-type="ppub">0021-9738</issn><issn pub-type="epub">1558-8238</issn><publisher><publisher-name>American Society for Clinical Investigation</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">28414293</article-id><article-id pub-id-type="pmc">5409070</article-id><article-id pub-id-type="publisher-id">90727</article-id><article-id pub-id-type="doi">10.1172/JCI90727</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency</article-title></title-group><contrib-group><contrib 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rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid" authenticated="true">http://orcid.org/0000-0001-8788-5056</contrib-id><name><surname>Picard</surname><given-names>Capucine</given-names></name><email>capucine.picard@inserm.fr</email><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A11">11</xref><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Bustamante</surname><given-names>Jacinta</given-names></name><email>jacinta.bustamante@inserm.fr</email><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A11">11</xref><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Eidenschenk</surname><given-names>Céline</given-names></name><email>eidensch@gmail.com</email><xref ref-type="aff" 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contrib-type="author"><name><surname>Michon</surname><given-names>Jean</given-names></name><email>jean.michon@curie.fr</email><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Bermudez</surname><given-names>Vladimir P.</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Abel</surname><given-names>Laurent</given-names></name><email>laurent.abel@inserm.fr</email><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>de Villartay</surname><given-names>Jean-Pierre</given-names></name><email>jean-pierre.de-villartay@inserm.fr</email><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Geissmann</surname><given-names>Frédéric</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Tangye</surname><given-names>Stuart G.</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Hurwitz</surname><given-names>Jerard</given-names></name><email>j-hurwitz@ski.mskcc.org</email><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Vivier</surname><given-names>Eric</given-names></name><email>vivier@ciml.univ-mrs.fr</email><xref ref-type="aff" rid="A5">5</xref><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Casanova</surname><given-names>Jean-Laurent</given-names></name><email>Jean-Laurent.Casanova@mail.rockefeller.edu</email><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A11">11</xref><xref ref-type="aff" rid="A13">13</xref><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid" authenticated="true">http://orcid.org/0000-0001-6285-1562</contrib-id><name><surname>Smogorzewska</surname><given-names>Agata</given-names></name><email>asmogorzewska@mail.rockefeller.edu</email><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Jouanguy</surname><given-names>Emmanuelle</given-names></name><email>emmanuelle.jouanguy@inserm.fr</email><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A11">11</xref></contrib></contrib-group><aff id="A1"><label>1</label>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</aff><aff id="A2"><label>2</label>Paris Descartes University, Imagine Institute, Paris, France.</aff><aff id="A3"><label>3</label>Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.</aff><aff id="A4"><label>4</label>Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</aff><aff id="A5"><label>5</label>Aix Marseille University, CNRS, INSERM, CIML, Marseille, France.</aff><aff id="A6"><label>6</label>Assistance Publique–Hôpitaux de Marseille, Hôpital de la Conception, Service d’Immunologie, Marseille, France.</aff><aff id="A7"><label>7</label>Immunology Division, Garvan Institute of Medical Research, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia.</aff><aff id="A8"><label>8</label>Centre for Molecular and Cellular Biology of Inflammation (CMCBI), King’s College London, London, United Kingdom.</aff><aff id="A9"><label>9</label>Laboratory of Genome Dynamics in the Immune System, INSERM U1163, Paris, France.</aff><aff id="A10"><label>10</label>Bioinformatics Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.</aff><aff id="A11"><label>11</label>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.</aff><aff id="A12"><label>12</label>Center for the Study of Primary Immunodeficiencies and</aff><aff id="A13"><label>13</label>Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</aff><aff id="A14"><label>14</label>Pediatric Hemato-Oncology Unit, Bordeaux Hospital, Bordeaux, France.</aff><aff id="A15"><label>15</label>Bordeaux University, EA4676, Laboratoire de Maladies Rares: Génétique et Métabolisme (MRGM), and Centre Hospitalier Universitaire (CHU) de Bordeaux, Medical Genetics, Bordeaux, France.</aff><aff id="A16"><label>16</label>Pediatric Endocrinology and Diabetology Unit, Clinical Investigation Center (CIC 05), Bordeaux Hospital, Bordeaux, France.</aff><aff id="A17"><label>17</label>Molecular and Cellular Immunology, Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.</aff><aff id="A18"><label>18</label>North East Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom.</aff><aff id="A19"><label>19</label>Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford, United Kingdom.</aff><aff id="A20"><label>20</label>Translational Gastroenterology Unit, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.</aff><aff id="A21"><label>21</label>Adult Immunopathology Unit, AP-HP, Saint-Louis Hospital, Paris, France.</aff><aff id="A22"><label>22</label>Paris Diderot University, Paris, France.</aff><aff id="A23"><label>23</label>Department of Pediatric Oncology, Institut Curie, Paris, France.</aff><aff id="A24"><label>24</label>Howard Hughes Medical Institute, New York, New York, USA.</aff><author-notes><corresp>Address correspondence to: Jean-Laurent Casanova, Rockefeller University 1230 York Avenue, New York, New York 10065, USA. Phone: 212.327.7332; E-mail: <email>casanova@rockefeller.edu</email>.</corresp><fn><p><bold>Authorship note:</bold> M.C. Kottemann, F.P. Lach, Y.H. Kang, and F. Vély contributed equally to this work. J. Hurwitz and E. Vivier contributed equally to this work. E.K. Deenick, T. Lazarov, L. Gineau, and Y. Wang contributed equally to this work. J.L. Casanova, A. Smogorzewska, and E. Jouanguy contributed equally to this work.</p></fn></author-notes><pub-date date-type="pub" publication-format="electronic" iso-8601-date="2017-04-17T16:00:00-0400"><day>17</day><month>4</month><year>2017</year></pub-date><pub-date date-type="pub" publication-format="print" iso-8601-date="2017-05-01T16:00:00-0400"><day>1</day><month>5</month><year>2017</year></pub-date><pub-date pub-type="pmc-release"><day>1</day><month>8</month><year>2017</year></pub-date><pmc-comment> PMC Release delay is 3 months and
0 days and was based on the
<volume>127</volume><issue>5</issue><fpage>1991</fpage><lpage>2006</lpage><history><date date-type="received"><day>26</day><month>9</month><year>2016</year></date><date date-type="accepted"><day>16</day><month>2</month><year>2017</year></date></history><permissions><copyright-statement>Copyright © 2017, American Society for Clinical Investigation</copyright-statement><copyright-year>2017</copyright-year><copyright-holder>American Society for Clinical Investigation</copyright-holder></permissions><self-uri xlink:href="https://www.jci.org/articles/view/90727">This article is available online at https://www.jci.org/articles/view/90727</self-uri><abstract><p>Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied 5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic neutropenia, and NK cell deficiency. Four of the 5 patients also had postnatal growth retardation. The association of neutropenia and NK cell deficiency, which is unusual among primary immunodeficiencies and bone marrow failures, was due to a blockade in the bone marrow and was mildly symptomatic. We discovered compound heterozygous rare mutations in Go-Ichi-Ni-San (GINS) complex subunit 1 (<italic>GINS1</italic>, also known as <italic>PSF1</italic>) in the 5 patients. The GINS complex is essential for eukaryotic DNA replication, and homozygous null mutations of GINS component–encoding genes are embryonic lethal in mice. The patients’ fibroblasts displayed impaired GINS complex assembly, basal replication stress, impaired checkpoint signaling, defective cell cycle control, and genomic instability, which was rescued by WT <italic>GINS1</italic>. The residual levels of GINS1 activity reached 3% to 16% in patients’ cells, depending on their <italic>GINS1</italic> genotype, and correlated with the severity of growth retardation and the in vitro cellular phenotype. The levels of GINS1 activity did not influence the immunological phenotype, which was uniform. Autosomal recessive, partial GINS1 deficiency impairs DNA replication and underlies intra-uterine (and postnatal) growth retardation, chronic neutropenia, and NK cell deficiency.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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