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Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

Identifieur interne : 000068 ( France/Analysis ); précédent : 000067; suivant : 000069

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

Auteurs : Capucine Picard [France] ; Waleed Al-Herz [Koweït] ; Aziz Bousfiha [Maroc] ; Jean-Laurent Casanova [France, États-Unis] ; Talal Chatila [États-Unis] ; Mary Ellen Conley [États-Unis] ; Charlotte Cunningham-Rundles [États-Unis] ; Amos Etzioni [Israël] ; Steven M. Holland [États-Unis] ; Christoph Klein [Allemagne] ; Shigeaki Nonoyama [Japon] ; Hans D. Ochs [États-Unis] ; Eric Oksenhendler [France] ; Jennifer M. Puck [États-Unis] ; Kathleen E. Sullivan [États-Unis] ; Mimi L K. Tang [Australie] ; Jose Luis Franco [Colombie] ; H. Bobby Gaspar

Source :

RBID : PMC:4659841

Abstract

We report the updated classification of primary immunodeficiencies compiled by the Primary Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological Societies (IUIS). In the two years since the previous version, 34 new gene defects are reported in this updated version. For each disorder, the key clinical and laboratory features are provided. In this new version we continue to see the increasing overlap between immunodeficiency, as manifested by infection and/or malignancy, and immune dysregulation, as manifested by auto-inflammation, auto-immunity, and/or allergy. There is also an increased number of genetic defects that lead to susceptibility to specific organisms which reflects the finely tuned nature of immune defense systems. This classification is the most up to date catalogue of all known and published primary immunodeficiencies and acts as a current reference of the knowledge of these conditions and is an important aid for the genetic and molecular diagnosis of patients with these rare diseases.


Url:
DOI: 10.1007/s10875-015-0201-1
PubMed: 26482257
PubMed Central: 4659841


Affiliations:


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PMC:4659841

Le document en format XML

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<name sortKey="Conley, Mary Ellen" sort="Conley, Mary Ellen" uniqKey="Conley M" first="Mary Ellen" last="Conley">Mary Ellen Conley</name>
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<name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name>
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<name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name>
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<name sortKey="Ochs, Hans D" sort="Ochs, Hans D" uniqKey="Ochs H" first="Hans D." last="Ochs">Hans D. Ochs</name>
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<wicri:cityArea>Department of Pediatrics, University of Washington and Seattle Children’s Research Institute, Seattle</wicri:cityArea>
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<name sortKey="Oksenhendler, Eric" sort="Oksenhendler, Eric" uniqKey="Oksenhendler E" first="Eric" last="Oksenhendler">Eric Oksenhendler</name>
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<name sortKey="Puck, Jennifer M" sort="Puck, Jennifer M" uniqKey="Puck J" first="Jennifer M." last="Puck">Jennifer M. Puck</name>
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<name sortKey="Sullivan, Kathleen E" sort="Sullivan, Kathleen E" uniqKey="Sullivan K" first="Kathleen E." last="Sullivan">Kathleen E. Sullivan</name>
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<name sortKey="Tang, Mimi L K" sort="Tang, Mimi L K" uniqKey="Tang M" first="Mimi L K." last="Tang">Mimi L K. Tang</name>
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<nlm:aff id="Aff22">Department of Paediatrics, University of Melbourne, Melbourne, VIC Australia</nlm:aff>
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<nlm:aff id="Aff23">Department of Allergy and Immunology, Royal Children’s Hospital, Melbourne, Australia</nlm:aff>
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<name sortKey="Franco, Jose Luis" sort="Franco, Jose Luis" uniqKey="Franco J" first="Jose Luis" last="Franco">Jose Luis Franco</name>
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<nlm:aff id="Aff24">Group of Primary Immunodeficiencies, University of Antioquia, Medellin, Colombia</nlm:aff>
<country xml:lang="fr">Colombie</country>
<wicri:regionArea>Group of Primary Immunodeficiencies, University of Antioquia, Medellin</wicri:regionArea>
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<name sortKey="Gaspar, H Bobby" sort="Gaspar, H Bobby" uniqKey="Gaspar H" first="H. Bobby" last="Gaspar">H. Bobby Gaspar</name>
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<nlm:aff id="Aff25">UCL Institute of Child Health, 30, Guilford Street, London, WC1N 1EH UK</nlm:aff>
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<title xml:lang="en" level="a" type="main">Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015</title>
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<name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name>
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<name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name>
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<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
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<nlm:aff id="Aff1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France</nlm:aff>
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<region type="region">Île-de-France</region>
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<nlm:aff id="Aff6">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY USA</nlm:aff>
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<region type="state">État de New York</region>
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<nlm:aff id="Aff7">Howard Hughes Medical Institute, New York, NY USA</nlm:aff>
<country>États-Unis</country>
<placeName>
<region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Howard Hughes Medical Institute, New York</wicri:cityArea>
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<nlm:aff id="Aff8">University Paris Descartes, Imagine Institute, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Paris Descartes, Imagine Institute, Paris</wicri:regionArea>
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<region type="region">Île-de-France</region>
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<nlm:aff id="Aff9">Pediatric Hematology & Immunology Unit, Necker Hospital for Sick Children, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Hematology & Immunology Unit, 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>
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<name sortKey="Chatila, Talal" sort="Chatila, Talal" uniqKey="Chatila T" first="Talal" last="Chatila">Talal Chatila</name>
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<nlm:aff id="Aff10">Division of Immunology, Children’s Hospital Boston, Boston, MA USA</nlm:aff>
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<region type="state">Massachusetts</region>
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<wicri:cityArea>Division of Immunology, Children’s Hospital Boston, Boston</wicri:cityArea>
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</author>
<author>
<name sortKey="Conley, Mary Ellen" sort="Conley, Mary Ellen" uniqKey="Conley M" first="Mary Ellen" last="Conley">Mary Ellen Conley</name>
<affiliation wicri:level="2">
<nlm:aff id="Aff6">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY USA</nlm:aff>
<country>États-Unis</country>
<placeName>
<region type="state">État de New York</region>
</placeName>
<wicri:cityArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Cunningham Rundles, Charlotte" sort="Cunningham Rundles, Charlotte" uniqKey="Cunningham Rundles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name>
<affiliation wicri:level="2">
<nlm:aff id="Aff11">Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY USA</nlm:aff>
<country>États-Unis</country>
<placeName>
<region type="state">État de New York</region>
</placeName>
<wicri:cityArea>Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name>
<affiliation wicri:level="1">
<nlm:aff id="Aff12">Meyer Children’s Hospital-Technion, Haifa, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Meyer Children’s Hospital-Technion, Haifa</wicri:regionArea>
<wicri:noRegion>Haifa</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name>
<affiliation wicri:level="2">
<nlm:aff id="Aff13">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD USA</nlm:aff>
<country>États-Unis</country>
<placeName>
<region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name>
<affiliation wicri:level="3">
<nlm:aff id="Aff14">Dr von Hauner Children’s Hospital, Ludwig-Maximilians-University Munich, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Dr von Hauner Children’s Hospital, Ludwig-Maximilians-University Munich, Munich</wicri:regionArea>
<placeName>
<region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name>
<affiliation wicri:level="1">
<nlm:aff id="Aff15">Department of Pediatrics, National Defense Medical College, Saitama, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Pediatrics, National Defense Medical College, Saitama</wicri:regionArea>
<wicri:noRegion>Saitama</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Ochs, Hans D" sort="Ochs, Hans D" uniqKey="Ochs H" first="Hans D." last="Ochs">Hans D. Ochs</name>
<affiliation wicri:level="2">
<nlm:aff id="Aff16">Department of Pediatrics, University of Washington and Seattle Children’s Research Institute, Seattle, WA USA</nlm:aff>
<country>États-Unis</country>
<placeName>
<region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, University of Washington and Seattle Children’s Research Institute, Seattle</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Oksenhendler, Eric" sort="Oksenhendler, Eric" uniqKey="Oksenhendler E" first="Eric" last="Oksenhendler">Eric Oksenhendler</name>
<affiliation wicri:level="3">
<nlm:aff id="Aff17">Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, 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="Aff18">Université Paris Diderot, Sorbonne Paris Cité, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris Diderot, Sorbonne Paris Cité, 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="Puck, Jennifer M" sort="Puck, Jennifer M" uniqKey="Puck J" first="Jennifer M." last="Puck">Jennifer M. Puck</name>
<affiliation wicri:level="2">
<nlm:aff id="Aff19">Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital, San Francisco, CA USA</nlm:aff>
<country>États-Unis</country>
<placeName>
<region type="state">Californie</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital, San Francisco</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Sullivan, Kathleen E" sort="Sullivan, Kathleen E" uniqKey="Sullivan K" first="Kathleen E." last="Sullivan">Kathleen E. Sullivan</name>
<affiliation wicri:level="2">
<nlm:aff id="Aff20">Division of Allergy Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA USA</nlm:aff>
<country>États-Unis</country>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Division of Allergy Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author>
<name sortKey="Tang, Mimi L K" sort="Tang, Mimi L K" uniqKey="Tang M" first="Mimi L K." last="Tang">Mimi L K. Tang</name>
<affiliation>
<nlm:aff id="Aff21">Murdoch Childrens Research Institute, Melbourne, VIC Australia</nlm:aff>
<wicri:noCountry code="subfield">VIC Australia</wicri:noCountry>
</affiliation>
<affiliation>
<nlm:aff id="Aff22">Department of Paediatrics, University of Melbourne, Melbourne, VIC Australia</nlm:aff>
<wicri:noCountry code="subfield">VIC Australia</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="Aff23">Department of Allergy and Immunology, Royal Children’s Hospital, Melbourne, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Allergy and Immunology, Royal Children’s Hospital, Melbourne</wicri:regionArea>
<wicri:noRegion>Melbourne</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Franco, Jose Luis" sort="Franco, Jose Luis" uniqKey="Franco J" first="Jose Luis" last="Franco">Jose Luis Franco</name>
<affiliation wicri:level="1">
<nlm:aff id="Aff24">Group of Primary Immunodeficiencies, University of Antioquia, Medellin, Colombia</nlm:aff>
<country xml:lang="fr">Colombie</country>
<wicri:regionArea>Group of Primary Immunodeficiencies, University of Antioquia, Medellin</wicri:regionArea>
<wicri:noRegion>Medellin</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Gaspar, H Bobby" sort="Gaspar, H Bobby" uniqKey="Gaspar H" first="H. Bobby" last="Gaspar">H. Bobby Gaspar</name>
<affiliation>
<nlm:aff id="Aff25">UCL Institute of Child Health, 30, Guilford Street, London, WC1N 1EH UK</nlm:aff>
<wicri:noCountry code="subfield">WC1N 1EH UK</wicri:noCountry>
</affiliation>
</author>
</analytic>
<series>
<title level="j">Journal of Clinical Immunology</title>
<idno type="ISSN">0271-9142</idno>
<idno type="eISSN">1573-2592</idno>
<imprint>
<date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<p>We report the updated classification of primary immunodeficiencies compiled by the Primary Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological Societies (IUIS). In the two years since the previous version, 34 new gene defects are reported in this updated version. For each disorder, the key clinical and laboratory features are provided. In this new version we continue to see the increasing overlap between immunodeficiency, as manifested by infection and/or malignancy, and immune dysregulation, as manifested by auto-inflammation, auto-immunity, and/or allergy. There is also an increased number of genetic defects that lead to susceptibility to specific organisms which reflects the finely tuned nature of immune defense systems. This classification is the most up to date catalogue of all known and published primary immunodeficiencies and acts as a current reference of the knowledge of these conditions and is an important aid for the genetic and molecular diagnosis of patients with these rare diseases.</p>
</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Allemagne</li>
<li>Australie</li>
<li>Colombie</li>
<li>France</li>
<li>Israël</li>
<li>Japon</li>
<li>Koweït</li>
<li>Maroc</li>
<li>États-Unis</li>
</country>
<region>
<li>Bavière</li>
<li>Californie</li>
<li>District de Haute-Bavière</li>
<li>Maryland</li>
<li>Massachusetts</li>
<li>Pennsylvanie</li>
<li>Washington (État)</li>
<li>État de New York</li>
<li>Île-de-France</li>
</region>
<settlement>
<li>Munich</li>
<li>Paris</li>
</settlement>
</list>
<tree>
<noCountry>
<name sortKey="Gaspar, H Bobby" sort="Gaspar, H Bobby" uniqKey="Gaspar H" first="H. Bobby" last="Gaspar">H. Bobby Gaspar</name>
</noCountry>
<country name="France">
<region name="Île-de-France">
<name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
</region>
<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<name sortKey="Oksenhendler, Eric" sort="Oksenhendler, Eric" uniqKey="Oksenhendler E" first="Eric" last="Oksenhendler">Eric Oksenhendler</name>
<name sortKey="Oksenhendler, Eric" sort="Oksenhendler, Eric" uniqKey="Oksenhendler E" first="Eric" last="Oksenhendler">Eric Oksenhendler</name>
<name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
</country>
<country name="Koweït">
<noRegion>
<name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name>
</noRegion>
<name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name>
</country>
<country name="Maroc">
<noRegion>
<name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name>
</noRegion>
</country>
<country name="États-Unis">
<region name="État de New York">
<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
</region>
<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<name sortKey="Chatila, Talal" sort="Chatila, Talal" uniqKey="Chatila T" first="Talal" last="Chatila">Talal Chatila</name>
<name sortKey="Conley, Mary Ellen" sort="Conley, Mary Ellen" uniqKey="Conley M" first="Mary Ellen" last="Conley">Mary Ellen Conley</name>
<name sortKey="Cunningham Rundles, Charlotte" sort="Cunningham Rundles, Charlotte" uniqKey="Cunningham Rundles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name>
<name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name>
<name sortKey="Ochs, Hans D" sort="Ochs, Hans D" uniqKey="Ochs H" first="Hans D." last="Ochs">Hans D. Ochs</name>
<name sortKey="Puck, Jennifer M" sort="Puck, Jennifer M" uniqKey="Puck J" first="Jennifer M." last="Puck">Jennifer M. Puck</name>
<name sortKey="Sullivan, Kathleen E" sort="Sullivan, Kathleen E" uniqKey="Sullivan K" first="Kathleen E." last="Sullivan">Kathleen E. Sullivan</name>
</country>
<country name="Israël">
<noRegion>
<name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name>
</noRegion>
</country>
<country name="Allemagne">
<region name="Bavière">
<name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name>
</region>
</country>
<country name="Japon">
<noRegion>
<name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name>
</noRegion>
</country>
<country name="Australie">
<noRegion>
<name sortKey="Tang, Mimi L K" sort="Tang, Mimi L K" uniqKey="Tang M" first="Mimi L K." last="Tang">Mimi L K. Tang</name>
</noRegion>
</country>
<country name="Colombie">
<noRegion>
<name sortKey="Franco, Jose Luis" sort="Franco, Jose Luis" uniqKey="Franco J" first="Jose Luis" last="Franco">Jose Luis Franco</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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