A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside
Identifieur interne : 004871 ( Main/Exploration ); précédent : 004870; suivant : 004872A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside
Auteurs : Ahmed Aziz Bousfiha ; Leïla Jeddane ; Fatima Ailal ; Waleed Al Herz ; Mary Ellen Conley ; Charlotte Cunningham-Rundles ; Amos Etzioni ; Alain Fischer ; Jose Luis Franco ; Raif S. Geha ; Lennart Hammarström ; Shigeaki Nonoyama ; Hans D. Ochs ; Chaim M. Roifman ; Reinhard Seger ; Mimi L. K. Tang ; Jennifer M. Puck ; Helen Chapel ; Luigi D. Notarangelo ; Jean-Laurent CasanovaSource :
- Journal of clinical immunology [ 0271-9142 ] ; 2013.
Abstract
The number of genetically defined Primary Immunodeficiency Diseases (PID) has increased exponentially, especially in the past decade. The biennial classification published by the IUIS PID expert committee is therefore quickly expanding, providing valuable information regarding the disease-causing genotypes, the immunological anomalies, and the associated clinical features of PIDs. These are grouped in eight, somewhat overlapping, categories of immune dysfunction. However, based on this immunological classification, the diagnosis of a specific PID from the clinician’s observation of an individual clinical and/or immunological phenotype remains difficult, especially for non-PID specialists. The purpose of this work is to suggest a phenotypic classification that forms the basis for diagnostic trees, leading the physician to particular groups of PIDs, starting from clinical features and combining routine immunological investigations along the way.We present 8 colored diagnostic figures that correspond to the 8 PID groups in the IUIS Classification, including all the PIDs cited in the 2011 update of the IUIS classification and most of those reported since.
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DOI: 10.1007/s10875-013-9901-6
PubMed: 23657403
PubMed Central: 4083684
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Geha</name></author><author><name sortKey="Hammarstrom, Lennart" sort="Hammarstrom, Lennart" uniqKey="Hammarstrom L" first="Lennart" last="Hammarström">Lennart Hammarström</name></author><author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name></author><author><name sortKey="Ochs, Hans D" sort="Ochs, Hans D" uniqKey="Ochs H" first="Hans D." last="Ochs">Hans D. Ochs</name></author><author><name sortKey="Roifman, Chaim M" sort="Roifman, Chaim M" uniqKey="Roifman C" first="Chaim M." last="Roifman">Chaim M. Roifman</name></author><author><name sortKey="Seger, Reinhard" sort="Seger, Reinhard" uniqKey="Seger R" first="Reinhard" last="Seger">Reinhard Seger</name></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></author><author><name sortKey="Puck, Jennifer M" sort="Puck, Jennifer M" uniqKey="Puck J" first="Jennifer M." last="Puck">Jennifer M. Puck</name></author><author><name sortKey="Chapel, Helen" sort="Chapel, Helen" uniqKey="Chapel H" first="Helen" last="Chapel">Helen Chapel</name></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D." last="Notarangelo">Luigi D. Notarangelo</name></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name></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="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">The number of genetically defined Primary Immunodeficiency Diseases (PID) has increased exponentially, especially in the past decade. The biennial classification published by the IUIS PID expert committee is therefore quickly expanding, providing valuable information regarding the disease-causing genotypes, the immunological anomalies, and the associated clinical features of PIDs. These are grouped in eight, somewhat overlapping, categories of immune dysfunction. However, based on this immunological classification, the diagnosis of a specific PID from the clinician’s observation of an individual clinical and/or immunological phenotype remains difficult, especially for non-PID specialists. The purpose of this work is to suggest a phenotypic classification that forms the basis for diagnostic trees, leading the physician to particular groups of PIDs, starting from clinical features and combining routine immunological investigations along the way.We present 8 colored diagnostic figures that correspond to the 8 PID groups in the IUIS Classification, including all the PIDs cited in the 2011 update of the IUIS classification and most of those reported since.</p></div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name><name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al Herz">Waleed Al Herz</name><name sortKey="Bousfiha, Ahmed Aziz" sort="Bousfiha, Ahmed Aziz" uniqKey="Bousfiha A" first="Ahmed Aziz" last="Bousfiha">Ahmed Aziz Bousfiha</name><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><name sortKey="Chapel, Helen" sort="Chapel, Helen" uniqKey="Chapel H" first="Helen" last="Chapel">Helen Chapel</name><name sortKey="Conley, Mary Ellen" sort="Conley, Mary Ellen" uniqKey="Conley M" first="Mary Ellen" last="Conley">Mary Ellen Conley</name><name sortKey="Cunningham Rundles, Charlotte" sort="Cunningham Rundles, Charlotte" uniqKey="Cunningham Rundles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name><name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name><name sortKey="Fischer, Alain" sort="Fischer, Alain" uniqKey="Fischer A" first="Alain" last="Fischer">Alain Fischer</name><name sortKey="Franco, Jose Luis" sort="Franco, Jose Luis" uniqKey="Franco J" first="Jose Luis" last="Franco">Jose Luis Franco</name><name sortKey="Geha, Raif S" sort="Geha, Raif S" uniqKey="Geha R" first="Raif S." last="Geha">Raif S. Geha</name><name sortKey="Hammarstrom, Lennart" sort="Hammarstrom, Lennart" uniqKey="Hammarstrom L" first="Lennart" last="Hammarström">Lennart Hammarström</name><name sortKey="Jeddane, Leila" sort="Jeddane, Leila" uniqKey="Jeddane L" first="Leïla" last="Jeddane">Leïla Jeddane</name><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D." last="Notarangelo">Luigi D. Notarangelo</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="Roifman, Chaim M" sort="Roifman, Chaim M" uniqKey="Roifman C" first="Chaim M." last="Roifman">Chaim M. Roifman</name><name sortKey="Seger, Reinhard" sort="Seger, Reinhard" uniqKey="Seger R" first="Reinhard" last="Seger">Reinhard Seger</name><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></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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