Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
Identifieur interne : 002800 ( PubMed/Checkpoint ); précédent : 002799; suivant : 002801Primary 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] ; 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 [Royaume-Uni]Source :
- Journal of clinical immunology [ 1573-2592 ] ; 2015.
Descripteurs français
- KwdFr :
- Carcinogenèse (génétique), Carcinogenèse (immunologie), Conférences de consensus comme sujet, Coopération internationale, Déficits immunitaires (), Déficits immunitaires (immunologie), Expertise, Humains, Immunité (génétique), Infection (génétique), Infection (immunologie), Maladies auto-immunes (génétique), Maladies auto-immunes (immunologie), Mutation (génétique), Médecine factuelle, Prédisposition génétique à une maladie.
- MESH :
- génétique : Carcinogenèse, Immunité, Infection, Maladies auto-immunes, Mutation.
- immunologie : Carcinogenèse, Déficits immunitaires, Infection, Maladies auto-immunes.
- Conférences de consensus comme sujet, Coopération internationale, Déficits immunitaires, Expertise, Humains, Médecine factuelle, Prédisposition génétique à une maladie.
English descriptors
- KwdEn :
- Autoimmune Diseases (genetics), Autoimmune Diseases (immunology), Carcinogenesis (genetics), Carcinogenesis (immunology), Consensus Development Conferences as Topic, Evidence-Based Medicine, Expert Testimony, Genetic Predisposition to Disease, Humans, Immunity (genetics), Immunologic Deficiency Syndromes (classification), Immunologic Deficiency Syndromes (immunology), Infection (genetics), Infection (immunology), International Cooperation, Mutation (genetics).
- MESH :
- classification : Immunologic Deficiency Syndromes.
- genetics : Autoimmune Diseases, Carcinogenesis, Immunity, Infection, Mutation.
- immunology : Autoimmune Diseases, Carcinogenesis, Immunologic Deficiency Syndromes, Infection.
- Consensus Development Conferences as Topic, Evidence-Based Medicine, Expert Testimony, Genetic Predisposition to Disease, Humans, International Cooperation.
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.
DOI: 10.1007/s10875-015-0201-1
PubMed: 26482257
Affiliations:
- Allemagne, Australie, Colombie, France, Israël, Japon, Koweït, Maroc, Royaume-Uni, États-Unis
- Bavière, Californie, District de Haute-Bavière, Maryland, Massachusetts, Pennsylvanie, Washington (État), État de New York, Île-de-France
- Munich, Paris
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pubmed:26482257Le document en format XML
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Ochs</name><affiliation wicri:level="2"><nlm:affiliation>Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></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:affiliation>Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.</nlm:affiliation><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></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:affiliation>Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></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:affiliation>Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></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:affiliation>Murdoch Childrens Research Institute, Melbourne, VIC, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Murdoch Childrens Research Institute, Melbourne, VIC</wicri:regionArea><wicri:noRegion>VIC</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:affiliation>Group of Primary Immunodeficiencies, University of Antioquia, Medellin, Colombia.</nlm:affiliation><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="1"><nlm:affiliation>UCL Institute of Child Health, 30, Guilford Street, London, WC1N 1EH, UK. h.gaspar@ucl.ac.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>UCL Institute of Child Health, 30, Guilford Street, London, WC1N 1EH</wicri:regionArea><wicri:noRegion>WC1N 1EH</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26482257</idno><idno type="pmid">26482257</idno><idno type="doi">10.1007/s10875-015-0201-1</idno><idno type="wicri:Area/PubMed/Corpus">002767</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002767</idno><idno type="wicri:Area/PubMed/Curation">002698</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002698</idno><idno type="wicri:Area/PubMed/Checkpoint">002698</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002698</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.</title><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 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="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:affiliation>Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.</nlm:affiliation><country xml:lang="fr">Koweït</country><wicri:regionArea>Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City</wicri:regionArea><wicri:noRegion>Kuwait City</wicri:noRegion></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:affiliation>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca</wicri:regionArea><wicri:noRegion>Casablanca</wicri:noRegion></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:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, 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:affiliation>Division of Immunology, Children's Hospital Boston, Boston, MA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Immunology, Children's Hospital Boston, Boston, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></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:affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></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:affiliation>Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></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:affiliation>Meyer Children's Hospital-Technion, Haifa, Israel.</nlm:affiliation><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:affiliation>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></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:affiliation>Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.</nlm:affiliation><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:affiliation>Department of Pediatrics, National Defense Medical College, Saitama, Japan.</nlm:affiliation><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:affiliation>Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></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:affiliation>Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.</nlm:affiliation><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></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:affiliation>Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></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:affiliation>Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></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:affiliation>Murdoch Childrens Research Institute, Melbourne, VIC, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Murdoch Childrens Research Institute, Melbourne, VIC</wicri:regionArea><wicri:noRegion>VIC</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:affiliation>Group of Primary Immunodeficiencies, University of Antioquia, Medellin, Colombia.</nlm:affiliation><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="1"><nlm:affiliation>UCL Institute of Child Health, 30, Guilford Street, London, WC1N 1EH, UK. h.gaspar@ucl.ac.uk.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>UCL Institute of Child Health, 30, Guilford Street, London, WC1N 1EH</wicri:regionArea><wicri:noRegion>WC1N 1EH</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of clinical immunology</title><idno type="eISSN">1573-2592</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autoimmune Diseases (genetics)</term><term>Autoimmune Diseases (immunology)</term><term>Carcinogenesis (genetics)</term><term>Carcinogenesis (immunology)</term><term>Consensus Development Conferences as Topic</term><term>Evidence-Based Medicine</term><term>Expert Testimony</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Immunity (genetics)</term><term>Immunologic Deficiency Syndromes (classification)</term><term>Immunologic Deficiency Syndromes (immunology)</term><term>Infection (genetics)</term><term>Infection (immunology)</term><term>International Cooperation</term><term>Mutation (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Carcinogenèse (génétique)</term><term>Carcinogenèse (immunologie)</term><term>Conférences de consensus comme sujet</term><term>Coopération internationale</term><term>Déficits immunitaires ()</term><term>Déficits immunitaires (immunologie)</term><term>Expertise</term><term>Humains</term><term>Immunité (génétique)</term><term>Infection (génétique)</term><term>Infection (immunologie)</term><term>Maladies auto-immunes (génétique)</term><term>Maladies auto-immunes (immunologie)</term><term>Mutation (génétique)</term><term>Médecine factuelle</term><term>Prédisposition génétique à une maladie</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>Autoimmune Diseases</term><term>Carcinogenesis</term><term>Immunity</term><term>Infection</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Carcinogenèse</term><term>Immunité</term><term>Infection</term><term>Maladies auto-immunes</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Carcinogenèse</term><term>Déficits immunitaires</term><term>Infection</term><term>Maladies auto-immunes</term></keywords><keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>Autoimmune Diseases</term><term>Carcinogenesis</term><term>Immunologic Deficiency Syndromes</term><term>Infection</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Consensus Development Conferences as Topic</term><term>Evidence-Based Medicine</term><term>Expert Testimony</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>International Cooperation</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Conférences de consensus comme sujet</term><term>Coopération internationale</term><term>Déficits immunitaires</term><term>Expertise</term><term>Humains</term><term>Médecine factuelle</term><term>Prédisposition génétique à une maladie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26482257</PMID><DateCreated><Year>2016</Year><Month>02</Month><Day>10</Day></DateCreated><DateCompleted><Year>2016</Year><Month>09</Month><Day>05</Day></DateCompleted><DateRevised><Year>2016</Year><Month>10</Month><Day>25</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1573-2592</ISSN><JournalIssue CitedMedium="Internet"><Volume>35</Volume><Issue>8</Issue><PubDate><Year>2015</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Journal of clinical immunology</Title><ISOAbbreviation>J. Clin. Immunol.</ISOAbbreviation></Journal><ArticleTitle>Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.</ArticleTitle><Pagination><MedlinePgn>696-726</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s10875-015-0201-1</ELocationID><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Picard</LastName><ForeName>Capucine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Centre d'étude des déficits immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Al-Herz</LastName><ForeName>Waleed</ForeName><Initials>W</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bousfiha</LastName><ForeName>Aziz</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Casanova</LastName><ForeName>Jean-Laurent</ForeName><Initials>JL</Initials><AffiliationInfo><Affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Howard Hughes Medical Institute, New York, NY, USA.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University Paris Descartes, Imagine Institute, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Pediatric Hematology & Immunology Unit, Necker Hospital for Sick Children, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chatila</LastName><ForeName>Talal</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Division of Immunology, Children's Hospital Boston, Boston, MA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Conley</LastName><ForeName>Mary Ellen</ForeName><Initials>ME</Initials><AffiliationInfo><Affiliation>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cunningham-Rundles</LastName><ForeName>Charlotte</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Etzioni</LastName><ForeName>Amos</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Meyer Children's Hospital-Technion, Haifa, Israel.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Holland</LastName><ForeName>Steven M</ForeName><Initials>SM</Initials><AffiliationInfo><Affiliation>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>Christoph</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nonoyama</LastName><ForeName>Shigeaki</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, National Defense Medical College, Saitama, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ochs</LastName><ForeName>Hans D</ForeName><Initials>HD</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Oksenhendler</LastName><ForeName>Eric</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Université Paris Diderot, Sorbonne Paris Cité, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Puck</LastName><ForeName>Jennifer M</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sullivan</LastName><ForeName>Kathleen E</ForeName><Initials>KE</Initials><AffiliationInfo><Affiliation>Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tang</LastName><ForeName>Mimi L K</ForeName><Initials>ML</Initials><AffiliationInfo><Affiliation>Murdoch Childrens Research Institute, Melbourne, VIC, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Allergy and Immunology, Royal Children's Hospital, Melbourne, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Franco</LastName><ForeName>Jose Luis</ForeName><Initials>JL</Initials><AffiliationInfo><Affiliation>Group of Primary Immunodeficiencies, University of Antioquia, Medellin, Colombia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gaspar</LastName><ForeName>H Bobby</ForeName><Initials>HB</Initials><AffiliationInfo><Affiliation>UCL Institute of Child Health, 30, Guilford Street, London, WC1N 1EH, UK. h.gaspar@ucl.ac.uk.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>R18 AI048693</GrantID><Acronym>AI</Acronym><Agency>NIAID NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>10</Month><Day>19</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>J Clin Immunol</MedlineTA><NlmUniqueID>8102137</NlmUniqueID><ISSNLinking>0271-9142</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D001327" MajorTopicYN="N">Autoimmune Diseases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000276" MajorTopicYN="Y">immunology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D063646" MajorTopicYN="N">Carcinogenesis</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000276" MajorTopicYN="N">immunology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003245" MajorTopicYN="N">Consensus Development Conferences as Topic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019317" MajorTopicYN="N">Evidence-Based Medicine</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005104" MajorTopicYN="N">Expert Testimony</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007109" MajorTopicYN="N">Immunity</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007153" MajorTopicYN="N">Immunologic Deficiency Syndromes</DescriptorName><QualifierName UI="Q000145" MajorTopicYN="N">classification</QualifierName><QualifierName UI="Q000276" MajorTopicYN="Y">immunology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007239" MajorTopicYN="N">Infection</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000276" MajorTopicYN="Y">immunology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007391" MajorTopicYN="N">International Cooperation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4659841</OtherID><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Primary immunodeficiencies</Keyword><Keyword MajorTopicYN="N">classification</Keyword><Keyword MajorTopicYN="N">genetic defects</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>07</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>09</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>10</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>10</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>9</Month><Day>7</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26482257</ArticleId><ArticleId IdType="doi">10.1007/s10875-015-0201-1</ArticleId><ArticleId IdType="pii">10.1007/s10875-015-0201-1</ArticleId><ArticleId IdType="pmc">PMC4659841</ArticleId></ArticleIdList></PubmedData></pubmed><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>Royaume-Uni</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><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="Oksenhendler, Eric" sort="Oksenhendler, Eric" uniqKey="Oksenhendler E" first="Eric" last="Oksenhendler">Eric Oksenhendler</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></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="Massachusetts"><name sortKey="Chatila, Talal" sort="Chatila, Talal" uniqKey="Chatila T" first="Talal" last="Chatila">Talal Chatila</name></region><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><country name="Royaume-Uni"><noRegion><name sortKey="Gaspar, H Bobby" sort="Gaspar, H Bobby" uniqKey="Gaspar H" first="H Bobby" last="Gaspar">H Bobby Gaspar</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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