AustralieFrV1, Main, Exploration, bibRecord, 00E296

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

Identifieur interne : 00E296 ( Main/Exploration ); précédent : 00E295; suivant : 00E297

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

Auteurs : Julien Cottineau [France] ; Molly C. Kottemann [États-Unis] ; Francis P. Lach [États-Unis] ; Young-Hoon Kang [États-Unis] ; Frédéric Vély [France] ; Elissa K. Deenick [Australie] ; Tomi Lazarov [Royaume-Uni] ; Laure Gineau [France] ; Yi Wang [France] ; Andrea Farina [États-Unis] ; Marie Chansel [France] ; Lazaro Lorenzo [France] ; Christelle Piperoglou [France] ; Cindy S. Ma [Australie] ; Patrick Nitschke [France] ; Aziz Belkadi [France] ; Yuval Itan [États-Unis] ; Bertrand Boisson [France, États-Unis] ; Fabienne Jabot-Hanin [France] ; Capucine Picard [France, États-Unis] ; Jacinta Bustamante [France, États-Unis] ; Céline Eidenschenk [France] ; Soraya Boucherit [France] ; Nathalie Aladjidi [France] ; Didier Lacombe [France] ; Pascal Barat [France] ; Waseem Qasim [Royaume-Uni] ; Jane A. Hurst [Royaume-Uni] ; Andrew J. Pollard [Royaume-Uni] ; Holm H. Uhlig [Royaume-Uni] ; Claire Fieschi [France] ; Jean Michon [France] ; Vladimir P. Bermudez [États-Unis] ; Laurent Abel [France, États-Unis] ; Jean-Pierre De Villartay [France] ; Frédéric Geissmann [Royaume-Uni] ; Stuart G. Tangye [Australie] ; Jerard Hurwitz [États-Unis] ; Eric Vivier [France] ; Jean-Laurent Casanova [France, États-Unis] ; Agata Smogorzewska [États-Unis] ; Emmanuelle Jouanguy [France, États-Unis]

Source :

The Journal of Clinical Investigation [ 0021-9738 ] ; ????.

RBID : PMC:5409070

Abstract

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 (GINS1, also known as PSF1) 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 GINS1. The residual levels of GINS1 activity reached 3% to 16% in patients’ cells, depending on their GINS1 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409070

DOI: 10.1172/JCI90727
PubMed: 28414293
PubMed Central: 5409070

Affiliations:

Le document en format XML

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<author><name sortKey="Chansel, Marie" sort="Chansel, Marie" uniqKey="Chansel M" first="Marie" last="Chansel">Marie Chansel</name>
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<author><name sortKey="Lorenzo, Lazaro" sort="Lorenzo, Lazaro" uniqKey="Lorenzo L" first="Lazaro" last="Lorenzo">Lazaro Lorenzo</name>
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<author><name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name>
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<author><name sortKey="Itan, Yuval" sort="Itan, Yuval" uniqKey="Itan Y" first="Yuval" last="Itan">Yuval Itan</name>
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<author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name>
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<author><name sortKey="Jabot Hanin, Fabienne" sort="Jabot Hanin, Fabienne" uniqKey="Jabot Hanin F" first="Fabienne" last="Jabot-Hanin">Fabienne Jabot-Hanin</name>
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<author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
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<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
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<affiliation wicri:level="2"><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>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
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<affiliation><nlm:aff wicri:cut=" and" id="A12">Center for the Study of Primary Immunodeficiencies</nlm:aff>
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<affiliation wicri:level="3"><nlm:aff id="A13">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris</wicri:regionArea>
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<author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name>
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<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</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 wicri:level="3"><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Boucherit, Soraya" sort="Boucherit, Soraya" uniqKey="Boucherit S" first="Soraya" last="Boucherit">Soraya Boucherit</name>
<affiliation wicri:level="3"><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Aladjidi, Nathalie" sort="Aladjidi, Nathalie" uniqKey="Aladjidi N" first="Nathalie" last="Aladjidi">Nathalie Aladjidi</name>
<affiliation wicri:level="3"><nlm:aff id="A14">Pediatric Hemato-Oncology Unit, Bordeaux Hospital, Bordeaux, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Pediatric Hemato-Oncology Unit, Bordeaux Hospital, Bordeaux</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
<affiliation wicri:level="3"><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>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Bordeaux University, EA4676, Laboratoire de Maladies Rares: Génétique et Métabolisme (MRGM), and Centre Hospitalier Universitaire (CHU) de Bordeaux, Medical Genetics, Bordeaux</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Barat, Pascal" sort="Barat, Pascal" uniqKey="Barat P" first="Pascal" last="Barat">Pascal Barat</name>
<affiliation wicri:level="3"><nlm:aff id="A16">Pediatric Endocrinology and Diabetology Unit, Clinical Investigation Center (CIC 05), Bordeaux Hospital, Bordeaux, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Pediatric Endocrinology and Diabetology Unit, Clinical Investigation Center (CIC 05), Bordeaux Hospital, Bordeaux</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Qasim, Waseem" sort="Qasim, Waseem" uniqKey="Qasim W" first="Waseem" last="Qasim">Waseem Qasim</name>
<affiliation wicri:level="3"><nlm:aff id="A17">Molecular and Cellular Immunology, Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Molecular and Cellular Immunology, Institute of Child Health and Great Ormond Street Hospital, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</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 wicri:level="3"><nlm:aff id="A18">North East Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>North East Thames Genetics Service, Great Ormond Street Hospital, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</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 wicri:level="4"><nlm:aff id="A19">Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</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 wicri:level="4"><nlm:aff id="A19">Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A20">Translational Gastroenterology Unit, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Translational Gastroenterology Unit, University of Oxford, John Radcliffe Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
</author>
<author><name sortKey="Fieschi, Claire" sort="Fieschi, Claire" uniqKey="Fieschi C" first="Claire" last="Fieschi">Claire Fieschi</name>
<affiliation wicri:level="3"><nlm:aff id="A21">Adult Immunopathology Unit, AP-HP, Saint-Louis Hospital, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Adult Immunopathology Unit, AP-HP, Saint-Louis Hospital, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A22">Paris Diderot University, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Diderot University, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Michon, Jean" sort="Michon, Jean" uniqKey="Michon J" first="Jean" last="Michon">Jean Michon</name>
<affiliation wicri:level="3"><nlm:aff id="A23">Department of Pediatric Oncology, Institut Curie, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Department of Pediatric Oncology, Institut Curie, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</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 wicri:level="2"><nlm:aff id="A4">Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name>
<affiliation wicri:level="3"><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</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 wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A9">Laboratory of Genome Dynamics in the Immune System, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Genome Dynamics in the Immune System, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Geissmann, Frederic" sort="Geissmann, Frederic" uniqKey="Geissmann F" first="Frédéric" last="Geissmann">Frédéric Geissmann</name>
<affiliation wicri:level="3"><nlm:aff id="A8">Centre for Molecular and Cellular Biology of Inflammation (CMCBI), King’s College London, London, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Centre for Molecular and Cellular Biology of Inflammation (CMCBI), King’s College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</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 wicri:level="1"><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>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hurwitz, Jerard" sort="Hurwitz, Jerard" uniqKey="Hurwitz J" first="Jerard" last="Hurwitz">Jerard Hurwitz</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vivier, Eric" sort="Vivier, Eric" uniqKey="Vivier E" first="Eric" last="Vivier">Eric Vivier</name>
<affiliation wicri:level="3"><nlm:aff id="A5">Aix Marseille University, CNRS, INSERM, CIML, Marseille, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Aix Marseille University, CNRS, INSERM, CIML, Marseille</wicri:regionArea>
<placeName><region type="region">Provence-Alpes-Côte d'Azur</region>
<region type="old region">Provence-Alpes-Côte d'Azur</region>
<settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A6">Assistance Publique–Hôpitaux de Marseille, Hôpital de la Conception, Service d’Immunologie, Marseille, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Assistance Publique–Hôpitaux de Marseille, Hôpital de la Conception, Service d’Immunologie, Marseille</wicri:regionArea>
<placeName><region type="region">Provence-Alpes-Côte d'Azur</region>
<region type="old region">Provence-Alpes-Côte d'Azur</region>
<settlement type="city">Marseille</settlement>
</placeName>
</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 wicri:level="3"><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
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<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A13">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A24">Howard Hughes Medical Institute, New York, New York, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Howard Hughes Medical Institute, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Smogorzewska, Agata" sort="Smogorzewska, Agata" uniqKey="Smogorzewska A" first="Agata" last="Smogorzewska">Agata Smogorzewska</name>
<affiliation wicri:level="2"><nlm:aff id="A3">Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Laboratory of Genome Maintenance, The Rockefeller University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jouanguy, Emmanuelle" sort="Jouanguy, Emmanuelle" uniqKey="Jouanguy E" first="Emmanuelle" last="Jouanguy">Emmanuelle Jouanguy</name>
<affiliation wicri:level="3"><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
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<author><name sortKey="Gineau, Laure" sort="Gineau, Laure" uniqKey="Gineau L" first="Laure" last="Gineau">Laure Gineau</name>
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<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
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<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
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<author><name sortKey="Wang, Yi" sort="Wang, Yi" uniqKey="Wang Y" first="Yi" last="Wang">Yi Wang</name>
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<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
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<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
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<author><name sortKey="Farina, Andrea" sort="Farina, Andrea" uniqKey="Farina A" first="Andrea" last="Farina">Andrea Farina</name>
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<author><name sortKey="Chansel, Marie" sort="Chansel, Marie" uniqKey="Chansel M" first="Marie" last="Chansel">Marie Chansel</name>
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<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
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</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A9">Laboratory of Genome Dynamics in the Immune System, INSERM U1163, Paris, France.</nlm:aff>
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<wicri:regionArea>Laboratory of Genome Dynamics in the Immune System, INSERM U1163, Paris</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Lorenzo, Lazaro" sort="Lorenzo, Lazaro" uniqKey="Lorenzo L" first="Lazaro" last="Lorenzo">Lazaro Lorenzo</name>
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<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
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</affiliation>
</author>
<author><name sortKey="Piperoglou, Christelle" sort="Piperoglou, Christelle" uniqKey="Piperoglou C" first="Christelle" last="Piperoglou">Christelle Piperoglou</name>
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<wicri:regionArea>Aix Marseille University, CNRS, INSERM, CIML, Marseille</wicri:regionArea>
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</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A6">Assistance Publique–Hôpitaux de Marseille, Hôpital de la Conception, Service d’Immunologie, Marseille, France.</nlm:aff>
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<author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S." last="Ma">Cindy S. Ma</name>
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</author>
<author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name>
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<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
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</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A10">Bioinformatics Unit, Assistance Publique–Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.</nlm:aff>
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</affiliation>
</author>
<author><name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name>
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<region type="old region">Île-de-France</region>
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</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
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<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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</affiliation>
</author>
<author><name sortKey="Itan, Yuval" sort="Itan, Yuval" uniqKey="Itan Y" first="Yuval" last="Itan">Yuval Itan</name>
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<wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name>
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<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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<affiliation wicri:level="2"><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>
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</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>
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<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
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<region type="old region">Île-de-France</region>
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</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
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<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
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</affiliation>
</author>
<author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
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<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
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</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
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<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
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<affiliation wicri:level="2"><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>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
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<affiliation><nlm:aff wicri:cut=" and" id="A12">Center for the Study of Primary Immunodeficiencies</nlm:aff>
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<affiliation wicri:level="3"><nlm:aff id="A13">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff>
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<author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name>
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<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
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<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
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<affiliation wicri:level="2"><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>
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<affiliation><nlm:aff wicri:cut=" and" id="A12">Center for the Study of Primary Immunodeficiencies</nlm:aff>
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<author><name sortKey="Eidenschenk, Celine" sort="Eidenschenk, Celine" uniqKey="Eidenschenk C" first="Céline" last="Eidenschenk">Céline Eidenschenk</name>
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<country xml:lang="fr" wicri:curation="lc">France</country>
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</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Boucherit, Soraya" sort="Boucherit, Soraya" uniqKey="Boucherit S" first="Soraya" last="Boucherit">Soraya Boucherit</name>
<affiliation wicri:level="3"><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Aladjidi, Nathalie" sort="Aladjidi, Nathalie" uniqKey="Aladjidi N" first="Nathalie" last="Aladjidi">Nathalie Aladjidi</name>
<affiliation wicri:level="3"><nlm:aff id="A14">Pediatric Hemato-Oncology Unit, Bordeaux Hospital, Bordeaux, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Pediatric Hemato-Oncology Unit, Bordeaux Hospital, Bordeaux</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
<affiliation wicri:level="3"><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>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Bordeaux University, EA4676, Laboratoire de Maladies Rares: Génétique et Métabolisme (MRGM), and Centre Hospitalier Universitaire (CHU) de Bordeaux, Medical Genetics, Bordeaux</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Barat, Pascal" sort="Barat, Pascal" uniqKey="Barat P" first="Pascal" last="Barat">Pascal Barat</name>
<affiliation wicri:level="3"><nlm:aff id="A16">Pediatric Endocrinology and Diabetology Unit, Clinical Investigation Center (CIC 05), Bordeaux Hospital, Bordeaux, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Pediatric Endocrinology and Diabetology Unit, Clinical Investigation Center (CIC 05), Bordeaux Hospital, Bordeaux</wicri:regionArea>
<placeName><region type="region">Nouvelle-Aquitaine</region>
<region type="old region">Aquitaine</region>
<settlement type="city">Bordeaux</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Qasim, Waseem" sort="Qasim, Waseem" uniqKey="Qasim W" first="Waseem" last="Qasim">Waseem Qasim</name>
<affiliation wicri:level="3"><nlm:aff id="A17">Molecular and Cellular Immunology, Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Molecular and Cellular Immunology, Institute of Child Health and Great Ormond Street Hospital, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</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 wicri:level="3"><nlm:aff id="A18">North East Thames Genetics Service, Great Ormond Street Hospital, London, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>North East Thames Genetics Service, Great Ormond Street Hospital, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</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 wicri:level="4"><nlm:aff id="A19">Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</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 wicri:level="4"><nlm:aff id="A19">Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatrics, University of Oxford, Children’s Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A20">Translational Gastroenterology Unit, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Translational Gastroenterology Unit, University of Oxford, John Radcliffe Hospital, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
</author>
<author><name sortKey="Fieschi, Claire" sort="Fieschi, Claire" uniqKey="Fieschi C" first="Claire" last="Fieschi">Claire Fieschi</name>
<affiliation wicri:level="3"><nlm:aff id="A21">Adult Immunopathology Unit, AP-HP, Saint-Louis Hospital, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Adult Immunopathology Unit, AP-HP, Saint-Louis Hospital, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A22">Paris Diderot University, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Diderot University, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Michon, Jean" sort="Michon, Jean" uniqKey="Michon J" first="Jean" last="Michon">Jean Michon</name>
<affiliation wicri:level="3"><nlm:aff id="A23">Department of Pediatric Oncology, Institut Curie, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Department of Pediatric Oncology, Institut Curie, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</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 wicri:level="2"><nlm:aff id="A4">Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name>
<affiliation wicri:level="3"><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</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 wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A9">Laboratory of Genome Dynamics in the Immune System, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Genome Dynamics in the Immune System, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Geissmann, Frederic" sort="Geissmann, Frederic" uniqKey="Geissmann F" first="Frédéric" last="Geissmann">Frédéric Geissmann</name>
<affiliation wicri:level="3"><nlm:aff id="A8">Centre for Molecular and Cellular Biology of Inflammation (CMCBI), King’s College London, London, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Centre for Molecular and Cellular Biology of Inflammation (CMCBI), King’s College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</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 wicri:level="1"><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>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, and St. Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hurwitz, Jerard" sort="Hurwitz, Jerard" uniqKey="Hurwitz J" first="Jerard" last="Hurwitz">Jerard Hurwitz</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Molecular Biology Program, Memorial Sloan-Kettering Cancer Center, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vivier, Eric" sort="Vivier, Eric" uniqKey="Vivier E" first="Eric" last="Vivier">Eric Vivier</name>
<affiliation wicri:level="3"><nlm:aff id="A5">Aix Marseille University, CNRS, INSERM, CIML, Marseille, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Aix Marseille University, CNRS, INSERM, CIML, Marseille</wicri:regionArea>
<placeName><region type="region">Provence-Alpes-Côte d'Azur</region>
<region type="old region">Provence-Alpes-Côte d'Azur</region>
<settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A6">Assistance Publique–Hôpitaux de Marseille, Hôpital de la Conception, Service d’Immunologie, Marseille, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Assistance Publique–Hôpitaux de Marseille, Hôpital de la Conception, Service d’Immunologie, Marseille</wicri:regionArea>
<placeName><region type="region">Provence-Alpes-Côte d'Azur</region>
<region type="old region">Provence-Alpes-Côte d'Azur</region>
<settlement type="city">Marseille</settlement>
</placeName>
</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 wicri:level="3"><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A13">Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Pediatric Hematology-Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A24">Howard Hughes Medical Institute, New York, New York, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Howard Hughes Medical Institute, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Smogorzewska, Agata" sort="Smogorzewska, Agata" uniqKey="Smogorzewska A" first="Agata" last="Smogorzewska">Agata Smogorzewska</name>
<affiliation wicri:level="2"><nlm:aff id="A3">Laboratory of Genome Maintenance, The Rockefeller University, New York, New York, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Laboratory of Genome Maintenance, The Rockefeller University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jouanguy, Emmanuelle" sort="Jouanguy, Emmanuelle" uniqKey="Jouanguy E" first="Emmanuelle" last="Jouanguy">Emmanuelle Jouanguy</name>
<affiliation wicri:level="3"><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A2">Paris Descartes University, Imagine Institute, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Paris Descartes University, Imagine Institute, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="2"><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>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</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>
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<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>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Aquitaine</li>
<li>Grand Londres</li>
<li>Nouvelle-Aquitaine</li>
<li>Oxfordshire</li>
<li>Provence-Alpes-Côte d'Azur</li>
<li>État de New York</li>
<li>Île-de-France</li>
</region>
<settlement><li>Bordeaux</li>
<li>Londres</li>
<li>Marseille</li>
<li>Oxford</li>
<li>Paris</li>
</settlement>
<orgName><li>Université d'Oxford</li>
</orgName>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Cottineau, Julien" sort="Cottineau, Julien" uniqKey="Cottineau J" first="Julien" last="Cottineau">Julien Cottineau</name>
</region>
<name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name>
<name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name>
<name sortKey="Aladjidi, Nathalie" sort="Aladjidi, Nathalie" uniqKey="Aladjidi N" first="Nathalie" last="Aladjidi">Nathalie Aladjidi</name>
<name sortKey="Barat, Pascal" sort="Barat, Pascal" uniqKey="Barat P" first="Pascal" last="Barat">Pascal Barat</name>
<name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name>
<name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name>
<name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name>
<name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name>
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Serveur d'exploration sur les relations entre la France et l'Australie

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

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	Serveur d'exploration sur les relations entre la France et l'Australie
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