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

Identifieur interne : 003E49 ( Pmc/Curation ); précédent : 003E48; suivant : 003E50

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

Auteurs : Waleed Al-Herz [Koweït] ; Aziz Bousfiha [Maroc] ; Jean-Laurent Casanova [États-Unis, France] ; Helen Chapel [Royaume-Uni] ; Mary Ellen Conley [États-Unis] ; Charlotte Cunningham-Rundles [États-Unis] ; Amos Etzioni [Israël] ; Alain Fischer [France] ; Jose Luis Franco [Colombie] ; Raif S. Geha [États-Unis] ; Lennart Hammarström [Suède] ; Shigeaki Nonoyama [Japon] ; Luigi Daniele Notarangelo [États-Unis] ; Hans Dieter Ochs [États-Unis] ; Jennifer M. Puck [États-Unis] ; Chaim M. Roifman [Canada] ; Reinhard Seger [Suisse] ; Mimi L. K. Tang [Australie]

Source :

RBID : PMC:3342372

Abstract

We report the updated classification of primary immunodeficiency diseases, compiled by the ad hoc Expert Committee of the International Union of Immunological Societies. As compared to the previous edition, more than 15 novel disease entities have been added in the updated version. For each disorders, the key clinical and laboratory features are provided. This updated classification is meant to help in the diagnostic approach to patients with these diseases.


Url:
DOI: 10.3389/fimmu.2011.00054
PubMed: 22566844
PubMed Central: 3342372

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PMC:3342372

Le document en format XML

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<institution>Department of Pediatrics, Kuwait University</institution>
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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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<institution>Department of Pediatrics, University of Tennessee College of Medicine</institution>
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<name sortKey="Cunningham Rundles, Charlotte" sort="Cunningham Rundles, Charlotte" uniqKey="Cunningham Rundles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name>
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<institution>Department of Medicine and Pediatrics, Mount Sinai School of Medicine</institution>
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<name sortKey="Fischer, Alain" sort="Fischer, Alain" uniqKey="Fischer A" first="Alain" last="Fischer">Alain Fischer</name>
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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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<country xml:lang="fr">Colombie</country>
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<institution>Division of Immunology, Children’s Hospital Boston</institution>
<country>Boston, MA, USA</country>
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<country xml:lang="fr">États-Unis</country>
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<country xml:lang="fr">Suède</country>
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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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<institution>Department of Pediatrics, National Defense Medical College</institution>
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<country xml:lang="fr">Japon</country>
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<name sortKey="Notarangelo, Luigi Daniele" sort="Notarangelo, Luigi Daniele" uniqKey="Notarangelo L" first="Luigi Daniele" last="Notarangelo">Luigi Daniele Notarangelo</name>
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<institution>The Manton Center for Orphan Disease Research, Children’s Hospital Boston</institution>
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<name sortKey="Ochs, Hans Dieter" sort="Ochs, Hans Dieter" uniqKey="Ochs H" first="Hans Dieter" last="Ochs">Hans Dieter Ochs</name>
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<institution>Department of Pediatrics, University of Washington and Seattle Children’s Research Institute</institution>
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<country xml:lang="fr">États-Unis</country>
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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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<nlm:aff id="aff18">
<institution>Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital</institution>
<country>San Francisco, CA, USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<name sortKey="Roifman, Chaim M" sort="Roifman, Chaim M" uniqKey="Roifman C" first="Chaim M." last="Roifman">Chaim M. Roifman</name>
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<institution>Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto</institution>
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<country xml:lang="fr">Canada</country>
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<name sortKey="Seger, Reinhard" sort="Seger, Reinhard" uniqKey="Seger R" first="Reinhard" last="Seger">Reinhard Seger</name>
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<institution>Division of Immunology, University Children’s Hospital</institution>
<country>Zürich, Switzerland</country>
</nlm:aff>
<country xml:lang="fr">Suisse</country>
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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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<institution>Department of Allergy and Immunology, Royal Children’s Hospital Melbourne</institution>
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<institution>Murdoch Childrens Research Institute, Melbourne</institution>
<country>Melbourne, VIC, Australia</country>
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<institution>Department of Paediatrics, University of Melbourne</institution>
<country>Melbourne, VIC, Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
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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</title>
<author>
<name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name>
<affiliation wicri:level="1">
<nlm:aff id="aff1">
<institution>Department of Pediatrics, Kuwait University</institution>
<country>Kuwait City, Kuwait</country>
</nlm:aff>
<country xml:lang="fr">Koweït</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff2">
<institution>Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital</institution>
<country>Kuwait City, Kuwait</country>
</nlm:aff>
<country xml:lang="fr">Koweït</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name>
<affiliation wicri:level="1">
<nlm:aff id="aff3">
<institution>Clinical Immunology Unit, Casablanca Children Hospital Ibn Rochd Medical School, King Hassan II University</institution>
<country>Casablanca, Morocco</country>
</nlm:aff>
<country xml:lang="fr">Maroc</country>
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</affiliation>
</author>
<author>
<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="aff4">
<institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</institution>
<country>New York, NY, USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff5">
<institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, University Paris Descartes and INSERM U980</institution>
<country>Paris, France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
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</affiliation>
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<name sortKey="Chapel, Helen" sort="Chapel, Helen" uniqKey="Chapel H" first="Helen" last="Chapel">Helen Chapel</name>
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<nlm:aff id="aff6">
<institution>Clinical Immunology Unit, Nuffield Department of Medicine, University of Oxford</institution>
<country>Oxford, UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
</author>
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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>
<affiliation wicri:level="1">
<nlm:aff id="aff7">
<institution>Department of Pediatrics, University of Tennessee College of Medicine</institution>
<country>Memphis, TN, USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff8">
<institution>Department of Immunology, St. Jude Children’s Research Hospital</institution>
<country>Memphis, TN, USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</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="1">
<nlm:aff id="aff9">
<institution>Department of Medicine and Pediatrics, Mount Sinai School of Medicine</institution>
<country>New York, NY, USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name>
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<nlm:aff id="aff10">
<institution>Meyer’s Children Hospital – Technion</institution>
<country>Haifa, Israel</country>
</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Fischer, Alain" sort="Fischer, Alain" uniqKey="Fischer A" first="Alain" last="Fischer">Alain Fischer</name>
<affiliation wicri:level="1">
<nlm:aff id="aff11">
<institution>Pediatric Hematology-Immunology Unit, Hôpital Necker Enfants-Malades, Assistance Publique–Hôpital de Paris, Necker Medical School, Paris Descartes University</institution>
<country>Paris, France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</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">
<institution>Group of Primary Immunodeficiencies, University of Antioquia</institution>
<country>Medellín, Colombia</country>
</nlm:aff>
<country xml:lang="fr">Colombie</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Geha, Raif S" sort="Geha, Raif S" uniqKey="Geha R" first="Raif S." last="Geha">Raif S. Geha</name>
<affiliation wicri:level="1">
<nlm:aff id="aff13">
<institution>Division of Immunology, Children’s Hospital Boston</institution>
<country>Boston, MA, USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Hammarstrom, Lennart" sort="Hammarstrom, Lennart" uniqKey="Hammarstrom L" first="Lennart" last="Hammarström">Lennart Hammarström</name>
<affiliation wicri:level="1">
<nlm:aff id="aff14">
<institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge</institution>
<country>Stockholm, Sweden</country>
</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</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">
<institution>Department of Pediatrics, National Defense Medical College</institution>
<country>Saitama, Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
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<name sortKey="Notarangelo, Luigi Daniele" sort="Notarangelo, Luigi Daniele" uniqKey="Notarangelo L" first="Luigi Daniele" last="Notarangelo">Luigi Daniele Notarangelo</name>
<affiliation wicri:level="1">
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<institution>Division of Immunology, Children’s Hospital Boston</institution>
<country>Boston, MA, USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff16">
<institution>The Manton Center for Orphan Disease Research, Children’s Hospital Boston</institution>
<country>Boston, MA, USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Ochs, Hans Dieter" sort="Ochs, Hans Dieter" uniqKey="Ochs H" first="Hans Dieter" last="Ochs">Hans Dieter Ochs</name>
<affiliation wicri:level="1">
<nlm:aff id="aff17">
<institution>Department of Pediatrics, University of Washington and Seattle Children’s Research Institute</institution>
<country>Seattle, WA, USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</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="1">
<nlm:aff id="aff18">
<institution>Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital</institution>
<country>San Francisco, CA, USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Roifman, Chaim M" sort="Roifman, Chaim M" uniqKey="Roifman C" first="Chaim M." last="Roifman">Chaim M. Roifman</name>
<affiliation wicri:level="1">
<nlm:aff id="aff19">
<institution>Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto</institution>
<country>Toronto, ON, Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Seger, Reinhard" sort="Seger, Reinhard" uniqKey="Seger R" first="Reinhard" last="Seger">Reinhard Seger</name>
<affiliation wicri:level="1">
<nlm:aff id="aff20">
<institution>Division of Immunology, University Children’s Hospital</institution>
<country>Zürich, Switzerland</country>
</nlm:aff>
<country xml:lang="fr">Suisse</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</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 wicri:level="1">
<nlm:aff id="aff21">
<institution>Department of Allergy and Immunology, Royal Children’s Hospital Melbourne</institution>
<country>Melbourne, VIC, Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff22">
<institution>Murdoch Childrens Research Institute, Melbourne</institution>
<country>Melbourne, VIC, Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff23">
<institution>Department of Paediatrics, University of Melbourne</institution>
<country>Melbourne, VIC, Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Gwinnett Sports Rehabilitation, Gwinnett Medical Center, 500 Medical Center Blvd, Suite 130, Lawrenceville</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series>
<title level="j">Frontiers in Immunology</title>
<idno type="eISSN">1664-3224</idno>
<imprint>
<date when="2011">2011</date>
</imprint>
</series>
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<textClass></textClass>
</profileDesc>
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<front>
<div type="abstract" xml:lang="en">
<p>We report the updated classification of primary immunodeficiency diseases, compiled by the
<italic>ad hoc</italic>
Expert Committee of the International Union of Immunological Societies. As compared to the previous edition, more than 15 novel disease entities have been added in the updated version. For each disorders, the key clinical and laboratory features are provided. This updated classification is meant to help in the diagnostic approach to patients with these diseases.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article">
<pmc-dir>properties open_access</pmc-dir>
<front>
<journal-meta>
<journal-id journal-id-type="nlm-ta">Front Immunol</journal-id>
<journal-id journal-id-type="iso-abbrev">Front Immunol</journal-id>
<journal-id journal-id-type="publisher-id">Front. Immun.</journal-id>
<journal-title-group>
<journal-title>Frontiers in Immunology</journal-title>
</journal-title-group>
<issn pub-type="epub">1664-3224</issn>
<publisher>
<publisher-name>Frontiers Research Foundation</publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id pub-id-type="pmid">22566844</article-id>
<article-id pub-id-type="pmc">3342372</article-id>
<article-id pub-id-type="doi">10.3389/fimmu.2011.00054</article-id>
<article-categories>
<subj-group subj-group-type="heading">
<subject>Immunology</subject>
<subj-group>
<subject>Classification Article</subject>
</subj-group>
</subj-group>
</article-categories>
<title-group>
<article-title>Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency</article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname>Al-Herz</surname>
<given-names>Waleed</given-names>
</name>
<xref ref-type="aff" rid="aff1">
<sup>1</sup>
</xref>
<xref ref-type="aff" rid="aff2">
<sup>2</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bousfiha</surname>
<given-names>Aziz</given-names>
</name>
<xref ref-type="aff" rid="aff3">
<sup>3</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Casanova</surname>
<given-names>Jean-Laurent</given-names>
</name>
<xref ref-type="aff" rid="aff4">
<sup>4</sup>
</xref>
<xref ref-type="aff" rid="aff5">
<sup>5</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Chapel</surname>
<given-names>Helen</given-names>
</name>
<xref ref-type="aff" rid="aff6">
<sup>6</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Conley</surname>
<given-names>Mary Ellen</given-names>
</name>
<xref ref-type="aff" rid="aff7">
<sup>7</sup>
</xref>
<xref ref-type="aff" rid="aff8">
<sup>8</sup>
</xref>
<xref ref-type="author-notes" rid="fn001">*</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Cunningham-Rundles</surname>
<given-names>Charlotte</given-names>
</name>
<xref ref-type="aff" rid="aff9">
<sup>9</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Etzioni</surname>
<given-names>Amos</given-names>
</name>
<xref ref-type="aff" rid="aff10">
<sup>10</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Fischer</surname>
<given-names>Alain</given-names>
</name>
<xref ref-type="aff" rid="aff11">
<sup>11</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Franco</surname>
<given-names>Jose Luis</given-names>
</name>
<xref ref-type="aff" rid="aff12">
<sup>12</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Geha</surname>
<given-names>Raif S.</given-names>
</name>
<xref ref-type="aff" rid="aff13">
<sup>13</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Hammarström</surname>
<given-names>Lennart</given-names>
</name>
<xref ref-type="aff" rid="aff14">
<sup>14</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Nonoyama</surname>
<given-names>Shigeaki</given-names>
</name>
<xref ref-type="aff" rid="aff15">
<sup>15</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Notarangelo</surname>
<given-names>Luigi Daniele</given-names>
</name>
<xref ref-type="aff" rid="aff13">
<sup>13</sup>
</xref>
<xref ref-type="aff" rid="aff16">
<sup>16</sup>
</xref>
<xref ref-type="author-notes" rid="fn001">*</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Ochs</surname>
<given-names>Hans Dieter</given-names>
</name>
<xref ref-type="aff" rid="aff17">
<sup>17</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Puck</surname>
<given-names>Jennifer M.</given-names>
</name>
<xref ref-type="aff" rid="aff18">
<sup>18</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Roifman</surname>
<given-names>Chaim M.</given-names>
</name>
<xref ref-type="aff" rid="aff19">
<sup>19</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Seger</surname>
<given-names>Reinhard</given-names>
</name>
<xref ref-type="aff" rid="aff20">
<sup>20</sup>
</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Tang</surname>
<given-names>Mimi L. K.</given-names>
</name>
<xref ref-type="aff" rid="aff21">
<sup>21</sup>
</xref>
<xref ref-type="aff" rid="aff22">
<sup>22</sup>
</xref>
<xref ref-type="aff" rid="aff23">
<sup>23</sup>
</xref>
</contrib>
</contrib-group>
<aff id="aff1">
<sup>1</sup>
<institution>Department of Pediatrics, Kuwait University</institution>
<country>Kuwait City, Kuwait</country>
</aff>
<aff id="aff2">
<sup>2</sup>
<institution>Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital</institution>
<country>Kuwait City, Kuwait</country>
</aff>
<aff id="aff3">
<sup>3</sup>
<institution>Clinical Immunology Unit, Casablanca Children Hospital Ibn Rochd Medical School, King Hassan II University</institution>
<country>Casablanca, Morocco</country>
</aff>
<aff id="aff4">
<sup>4</sup>
<institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</institution>
<country>New York, NY, USA</country>
</aff>
<aff id="aff5">
<sup>5</sup>
<institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, University Paris Descartes and INSERM U980</institution>
<country>Paris, France</country>
</aff>
<aff id="aff6">
<sup>6</sup>
<institution>Clinical Immunology Unit, Nuffield Department of Medicine, University of Oxford</institution>
<country>Oxford, UK</country>
</aff>
<aff id="aff7">
<sup>7</sup>
<institution>Department of Pediatrics, University of Tennessee College of Medicine</institution>
<country>Memphis, TN, USA</country>
</aff>
<aff id="aff8">
<sup>8</sup>
<institution>Department of Immunology, St. Jude Children’s Research Hospital</institution>
<country>Memphis, TN, USA</country>
</aff>
<aff id="aff9">
<sup>9</sup>
<institution>Department of Medicine and Pediatrics, Mount Sinai School of Medicine</institution>
<country>New York, NY, USA</country>
</aff>
<aff id="aff10">
<sup>10</sup>
<institution>Meyer’s Children Hospital – Technion</institution>
<country>Haifa, Israel</country>
</aff>
<aff id="aff11">
<sup>11</sup>
<institution>Pediatric Hematology-Immunology Unit, Hôpital Necker Enfants-Malades, Assistance Publique–Hôpital de Paris, Necker Medical School, Paris Descartes University</institution>
<country>Paris, France</country>
</aff>
<aff id="aff12">
<sup>12</sup>
<institution>Group of Primary Immunodeficiencies, University of Antioquia</institution>
<country>Medellín, Colombia</country>
</aff>
<aff id="aff13">
<sup>13</sup>
<institution>Division of Immunology, Children’s Hospital Boston</institution>
<country>Boston, MA, USA</country>
</aff>
<aff id="aff14">
<sup>14</sup>
<institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge</institution>
<country>Stockholm, Sweden</country>
</aff>
<aff id="aff15">
<sup>15</sup>
<institution>Department of Pediatrics, National Defense Medical College</institution>
<country>Saitama, Japan</country>
</aff>
<aff id="aff16">
<sup>16</sup>
<institution>The Manton Center for Orphan Disease Research, Children’s Hospital Boston</institution>
<country>Boston, MA, USA</country>
</aff>
<aff id="aff17">
<sup>17</sup>
<institution>Department of Pediatrics, University of Washington and Seattle Children’s Research Institute</institution>
<country>Seattle, WA, USA</country>
</aff>
<aff id="aff18">
<sup>18</sup>
<institution>Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital</institution>
<country>San Francisco, CA, USA</country>
</aff>
<aff id="aff19">
<sup>19</sup>
<institution>Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto</institution>
<country>Toronto, ON, Canada</country>
</aff>
<aff id="aff20">
<sup>20</sup>
<institution>Division of Immunology, University Children’s Hospital</institution>
<country>Zürich, Switzerland</country>
</aff>
<aff id="aff21">
<sup>21</sup>
<institution>Department of Allergy and Immunology, Royal Children’s Hospital Melbourne</institution>
<country>Melbourne, VIC, Australia</country>
</aff>
<aff id="aff22">
<sup>22</sup>
<institution>Murdoch Childrens Research Institute, Melbourne</institution>
<country>Melbourne, VIC, Australia</country>
</aff>
<aff id="aff23">
<sup>23</sup>
<institution>Department of Paediatrics, University of Melbourne</institution>
<country>Melbourne, VIC, Australia</country>
</aff>
<author-notes>
<fn fn-type="edited-by">
<p>Edited by: Eric Meffre, Yale University School of Medicine, USA</p>
</fn>
<fn fn-type="edited-by">
<p>Reviewed by: Eric Meffre, Yale University School of Medicine, USA</p>
</fn>
<corresp id="fn001">*Correspondence: Mary Ellen Conley, Department of Pediatrics, University of Tennessee College of Medicine, Memphis, TN, USA; Department of Immunology MS 351, St. Jude Children’s Research Hospital, 262 Danny Thomas Place, Memphis, TN 38105, USA. e-mail:
<email>maryellen.conley@stjude.org</email>
; Luigi Daniele Notarangelo, Division of Immunology and The Manton Center for Orphan Disease Research, Children’s Hospital Boston, Karp Research Building, Room 20217, 1 Blackfan Circle, Boston, MA 02115, USA. e-mail:
<email>luigi.notarangelo@childrens.harvard.edu</email>
</corresp>
<fn fn-type="other" id="fn002">
<p>This article was submitted to Frontiers in Primary Immunodeficiencies, a specialty of Frontiers in Immunology.</p>
</fn>
</author-notes>
<pub-date pub-type="epub">
<day>08</day>
<month>11</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="collection">
<year>2011</year>
</pub-date>
<volume>2</volume>
<elocation-id>54</elocation-id>
<history>
<date date-type="received">
<day>25</day>
<month>8</month>
<year>2011</year>
</date>
<date date-type="accepted">
<day>20</day>
<month>9</month>
<year>2011</year>
</date>
</history>
<permissions>
<copyright-statement>Copyright © 2011 Al-Herz, Bousfiha, Casanova, Chapel, Conley, Cunningham-Rundles, Etzioni, Fischer, Franco, Geha, Hammarström, Nonoyama, Notarangelo, Ochs, Puck, Roifman, Seger and Tang.</copyright-statement>
<copyright-year>2011</copyright-year>
<license license-type="open-access" xlink:href="http://www.frontiersin.org/licenseagreement">
<license-p>This is an open-access article subject to a non-exclusive license between the authors and Frontiers Media SA, which permits use, distribution and reproduction in other forums, provided the original authors and source are credited and other Frontiers conditions are complied with.</license-p>
</license>
</permissions>
<abstract>
<p>We report the updated classification of primary immunodeficiency diseases, compiled by the
<italic>ad hoc</italic>
Expert Committee of the International Union of Immunological Societies. As compared to the previous edition, more than 15 novel disease entities have been added in the updated version. For each disorders, the key clinical and laboratory features are provided. This updated classification is meant to help in the diagnostic approach to patients with these diseases.</p>
</abstract>
<kwd-group>
<kwd>primary immunodeficiency diseases</kwd>
</kwd-group>
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</counts>
</article-meta>
</front>
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