The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies
Identifieur interne : 002770 ( Main/Merge ); précédent : 002769; suivant : 002771The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies
Auteurs : Aziz Bousfiha [Maroc] ; Leïla Jeddane [Maroc] ; Waleed Al-Herz [Koweït] ; Fatima Ailal [Maroc] ; Jean-Laurent Casanova [États-Unis, France] ; Talal Chatila [États-Unis] ; Mary Ellen Conley [États-Unis] ; Charlotte Cunningham-Rundles [États-Unis] ; Amos Etzioni [Israël] ; Jose Luis Franco [Colombie] ; H. Bobby Gaspar [Royaume-Uni] ; Steven M. Holland [États-Unis] ; Christoph Klein [Allemagne] ; Shigeaki Nonoyama [Japon] ; Hans D. Ochs [États-Unis] ; Eric Oksenhendler [France] ; Capucine Picard [États-Unis, France] ; Jennifer M. Puck [États-Unis] ; Kathleen E. Sullivan [États-Unis] ; Mimi L. K. Tang [Australie]Source :
- Journal of Clinical Immunology [ 0271-9142 ] ; 2015.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Immunité.
- immunologie : Déficits immunitaires, Hypersensibilité, Infection, Inflammation, Tumeurs.
- Auto-immunité, Déficits immunitaires, Expertise, Humains, Phénotype.
English descriptors
- KwdEn :
- MESH :
- classification : Immunologic Deficiency Syndromes.
- genetics : Immunity.
- immunology : Hypersensitivity, Immunologic Deficiency Syndromes, Infection, Inflammation, Neoplasms.
- Autoimmunity, Expert Testimony, Humans, Phenotype.
Abstract
There are now nearly 300 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. For each of these five categories, a growing variety of phenotypes are ascribed to Primary Immunodeficiency Diseases (PID), making PIDs a rapidly expanding field of medicine. The International Union of Immunological Societies (IUIS) PID expert committee (EC) has published every other year a classification of these disorders into tables, defined by shared pathogenesis and/or clinical consequences. In 2013, the IUIS committee also proposed a more user-friendly, phenotypic classification, based on the selection of key phenotypes at the bedside. We herein propose the revised figures, based on the accompanying 2015 IUIS PID EC classification.
Url:
DOI: 10.1007/s10875-015-0198-5
PubMed: 26445875
PubMed Central: 4659854
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PMC:4659854Le document en format XML
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<author><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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<author><name sortKey="Cunningham Undles, Charlotte" sort="Cunningham Undles, Charlotte" uniqKey="Cunningham Undles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name>
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<author><name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name>
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<wicri:cityArea>Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital, San Francisco</wicri:cityArea>
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<author><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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<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>
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<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
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<author><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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<author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name>
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<author><name sortKey="Casanova, Jean Aurent" sort="Casanova, Jean Aurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Imagine Institute, University Paris Descartes, 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="Aff8">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>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chatila, Talal" sort="Chatila, Talal" uniqKey="Chatila T" first="Talal" last="Chatila">Talal Chatila</name>
<affiliation wicri:level="2"><nlm:aff id="Aff9">Division of Immunology, Children’s Hospital Boston, Boston, MA USA</nlm:aff>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Division of Immunology, Children’s Hospital Boston, Boston</wicri:cityArea>
</affiliation>
</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="Aff4">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 Undles, Charlotte" sort="Cunningham Undles, Charlotte" uniqKey="Cunningham Undles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name>
<affiliation wicri:level="2"><nlm:aff id="Aff10">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="Aff11">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="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="Aff12">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 wicri:level="3"><nlm:aff id="Aff13">UCL Institute of Child Health, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>UCL Institute of Child Health, 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="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="Aff14">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="Aff15">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="Aff16">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="Aff17">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="Aff18">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="Aff19">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="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
<affiliation wicri:level="2"><nlm:aff id="Aff5">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>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="Aff20">Centre d’étude des déficits immunitaires (CEDI), Hôpital Necker‐Enfants Malades, AP-HP, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre d’étude des déficits immunitaires (CEDI), Hôpital Necker‐Enfants Malades, AP-HP, 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="Aff21">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="Aff22">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="Aff23">Murdoch Childrens Research Institute, Melbourne, VIC Australia</nlm:aff>
<wicri:noCountry code="subfield">VIC Australia</wicri:noCountry>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="Aff24">Department of Paediatrics, University of Melbourne, Melbourne, VIC Australia</nlm:aff>
<orgName type="university">Université de Melbourne</orgName>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
<affiliation><nlm:aff id="Aff25">Department of Allergy and Immunology, Royal Children’s Hospital, Melbourne, VIC Australia</nlm:aff>
<wicri:noCountry code="subfield">VIC Australia</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>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autoimmunity</term>
<term>Expert Testimony</term>
<term>Humans</term>
<term>Hypersensitivity (immunology)</term>
<term>Immunity (genetics)</term>
<term>Immunologic Deficiency Syndromes (classification)</term>
<term>Immunologic Deficiency Syndromes (immunology)</term>
<term>Infection (immunology)</term>
<term>Inflammation (immunology)</term>
<term>Neoplasms (immunology)</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Auto-immunité</term>
<term>Déficits immunitaires ()</term>
<term>Déficits immunitaires (immunologie)</term>
<term>Expertise</term>
<term>Humains</term>
<term>Hypersensibilité (immunologie)</term>
<term>Immunité (génétique)</term>
<term>Infection (immunologie)</term>
<term>Inflammation (immunologie)</term>
<term>Phénotype</term>
<term>Tumeurs (immunologie)</term>
</keywords>
<keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Immunologic Deficiency Syndromes</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Immunity</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Immunité</term>
</keywords>
<keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Déficits immunitaires</term>
<term>Hypersensibilité</term>
<term>Infection</term>
<term>Inflammation</term>
<term>Tumeurs</term>
</keywords>
<keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>Hypersensitivity</term>
<term>Immunologic Deficiency Syndromes</term>
<term>Infection</term>
<term>Inflammation</term>
<term>Neoplasms</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Autoimmunity</term>
<term>Expert Testimony</term>
<term>Humans</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Auto-immunité</term>
<term>Déficits immunitaires</term>
<term>Expertise</term>
<term>Humains</term>
<term>Phénotype</term>
</keywords>
</textClass>
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<front><div type="abstract" xml:lang="en"><p>There are now nearly 300 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. For each of these five categories, a growing variety of phenotypes are ascribed to Primary Immunodeficiency Diseases (PID), making PIDs a rapidly expanding field of medicine. The International Union of Immunological Societies (IUIS) PID expert committee (EC) has published every other year a classification of these disorders into tables, defined by shared pathogenesis and/or clinical consequences. In 2013, the IUIS committee also proposed a more user-friendly, phenotypic classification, based on the selection of key phenotypes at the bedside. We herein propose the revised figures, based on the accompanying 2015 IUIS PID EC classification.</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct></biblStruct>
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</author>
<author><name sortKey="Jeddane, L" uniqKey="Jeddane L">L Jeddane</name>
</author>
<author><name sortKey="Ailal, F" uniqKey="Ailal F">F Ailal</name>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ciancanelli, Mj" uniqKey="Ciancanelli M">MJ Ciancanelli</name>
</author>
<author><name sortKey="Huang, Sx" uniqKey="Huang S">SX Huang</name>
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<author><name sortKey="Garner, H" uniqKey="Garner H">H Garner</name>
</author>
<author><name sortKey="Itan, Y" uniqKey="Itan Y">Y Itan</name>
</author>
<author><name sortKey="Volpi, S" uniqKey="Volpi S">S Volpi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Troedson, C" uniqKey="Troedson C">C Troedson</name>
</author>
<author><name sortKey="Wong, M" uniqKey="Wong M">M Wong</name>
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<author><name sortKey="Rice, Gi" uniqKey="Rice G">GI Rice</name>
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</biblStruct>
<biblStruct><analytic><author><name sortKey="Sewell, Gw" uniqKey="Sewell G">GW Sewell</name>
</author>
<author><name sortKey="Rahman, Fz" uniqKey="Rahman F">FZ Rahman</name>
</author>
<author><name sortKey="Levine, Ap" uniqKey="Levine A">AP Levine</name>
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<author><name sortKey="Jostins, L" uniqKey="Jostins L">L Jostins</name>
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</analytic>
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<biblStruct><analytic><author><name sortKey="Bousfiha, Aa" uniqKey="Bousfiha A">AA Bousfiha</name>
</author>
<author><name sortKey="Jeddane, L" uniqKey="Jeddane L">L Jeddane</name>
</author>
<author><name sortKey="Ailal, F" uniqKey="Ailal F">F Ailal</name>
</author>
<author><name sortKey="Al Herz, W" uniqKey="Al Herz W">W Al Herz</name>
</author>
<author><name sortKey="Conley, Me" uniqKey="Conley M">ME Conley</name>
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<author><name sortKey="Cunningham Rundles, C" uniqKey="Cunningham Rundles C">C Cunningham-Rundles</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct><analytic><author><name sortKey="Ochs, Hd" uniqKey="Ochs H">HD Ochs</name>
</author>
<author><name sortKey="Hagin, D" uniqKey="Hagin D">D Hagin</name>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Federici, S" uniqKey="Federici S">S Federici</name>
</author>
<author><name sortKey="Martini, A" uniqKey="Martini A">A Martini</name>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Modell, V" uniqKey="Modell V">V Modell</name>
</author>
<author><name sortKey="Knaus, M" uniqKey="Knaus M">M Knaus</name>
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</author>
<author><name sortKey="Roifman, C" uniqKey="Roifman C">C Roifman</name>
</author>
<author><name sortKey="Orange, J" uniqKey="Orange J">J Orange</name>
</author>
<author><name sortKey="Notarangelo, Ld" uniqKey="Notarangelo L">LD Notarangelo</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
</listBibl>
</div1>
</back>
</TEI>
</record>
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