Guidelines for the genetic diagnosis of hereditary recurrent fevers
Identifieur interne : 000804 ( Main/Exploration ); précédent : 000803; suivant : 000805Guidelines for the genetic diagnosis of hereditary recurrent fevers
Auteurs : Y. Shinar [Israël] ; L. Obici [Italie] ; I. Aksentijevich [États-Unis] ; B. Bennetts [Australie] ; F. Austrup [Allemagne] ; I. Ceccherini [Italie] ; J M Costa [France] ; A. De Leener [Belgique] ; M. Gattorno [Italie] ; U. Kania [Pologne] ; I. Kone-Paut [France] ; S. Lezer [Israël] ; A. Livneh [Israël] ; I. Moix ; R. Nishikomori [Japon] ; S. Ozen [Turquie] ; L. Phylactou [Chypre (pays)] ; L. Risom [Danemark] ; D. Rowczenio [Royaume-Uni] ; T. Sarkisian [Arménie] ; M E Van Gijn [Pays-Bas] ; M. Witsch-Baumgartner [Autriche] ; M. Morris [Suisse] ; H M Hoffman [États-Unis] ; I. Touitou [France]Source :
- Annals of the Rheumatic Diseases [ 0003-4967 ] ; 2012-10.
Abstract
Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity. Discovery of the molecular defects responsible for these diseases has initiated genetic diagnostics in many countries around the world, including the Middle East, Europe, USA, Japan and Australia. However, diverse testing methods and reporting practices are employed and there is a clear need for consensus guidelines for HRF genetic testing. Draft guidelines were prepared based on current practice deduced from previous HRF external quality assurance schemes and data from the literature. The draft document was disseminated through the European Molecular Genetics Quality Network for broader consultation and amendment. A workshop was held in Bruges (Belgium) on 18 and 19 September 2011 to ratify the draft and obtain a final consensus document. An agreed set of best practice guidelines was proposed for genetic diagnostic testing of HRFs, for reporting the genetic results and for defining their clinical significance.
Url:
DOI: 10.1136/annrheumdis-2011-201271
Affiliations:
- Allemagne, Arménie, Australie, Autriche, Belgique, Chypre (pays), Danemark, France, Israël, Italie, Japon, Pays-Bas, Pologne, Royaume-Uni, Suisse, Turquie, États-Unis
- Angleterre, Californie, Grand Londres, Hovedstaden, Maryland, Région de Bruxelles-Capitale, Utrecht (province)
- Bruxelles, Copenhague, Londres, Montpellier, Paris, Sydney, Utrecht
Links toward previous steps (curation, corpus...)
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Le document en format XML
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Shinar</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer</wicri:regionArea><wicri:noRegion>Tel Hashomer</wicri:noRegion></affiliation></author><author><name sortKey="Obici, L" sort="Obici, L" uniqKey="Obici L" first="L" last="Obici">L. Obici</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Amyloid Center, Biotechnology Research Laboratories, Fondazione IRCCS, Policlinico San Matteo, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Aksentijevich, I" sort="Aksentijevich, I" uniqKey="Aksentijevich I" first="I" last="Aksentijevich">I. 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Ceccherini</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Costa, J M" sort="Costa, J M" uniqKey="Costa J" first="J M" last="Costa">J M Costa</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Molecular Genetics, Laboratoire Cerba, Cergy-Pontoise</wicri:regionArea><wicri:noRegion>Cergy-Pontoise</wicri:noRegion><wicri:noRegion>Cergy-Pontoise</wicri:noRegion></affiliation></author><author><name sortKey="De Leener, A" sort="De Leener, A" uniqKey="De Leener A" first="A" last="De Leener">A. De Leener</name><affiliation wicri:level="3"><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Human Genetics ULB, Hopital Erasme, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Gattorno, M" sort="Gattorno, M" uniqKey="Gattorno M" first="M" last="Gattorno">M. Gattorno</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>UO Pediatria II – Reumatologia, Istituto G Gaslini, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Kania, U" sort="Kania, U" uniqKey="Kania U" first="U" last="Kania">U. Kania</name><affiliation wicri:level="1"><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Pediatrics, Polish-American Children's Hospital Jagiellonian University Medical College</wicri:regionArea><wicri:noRegion>Polish-American Children's Hospital Jagiellonian University Medical College</wicri:noRegion></affiliation></author><author><name sortKey="Kone Paut, I" sort="Kone Paut, I" uniqKey="Kone Paut I" first="I" last="Kone-Paut">I. Kone-Paut</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Paediatric and Paediatric Rheumatology, Reference center for autoinflammatory diseases CEREMAI, Kremlin-Bicêtre Hospital, APHP, University of Paris SUD, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Lezer, S" sort="Lezer, S" uniqKey="Lezer S" first="S" last="Lezer">S. Lezer</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Pronto diagnostics, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Livneh, A" sort="Livneh, A" uniqKey="Livneh A" first="A" last="Livneh">A. Livneh</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Tel-Aviv University, Tel-Aviv</wicri:regionArea><wicri:noRegion>Tel-Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Moix, I" sort="Moix, I" uniqKey="Moix I" first="I" last="Moix">I. Moix</name><affiliation><wicri:noCountry code="subField">Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Nishikomori, R" sort="Nishikomori, R" uniqKey="Nishikomori R" first="R" last="Nishikomori">R. Nishikomori</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto</wicri:regionArea><wicri:noRegion>Kyoto</wicri:noRegion></affiliation></author><author><name sortKey="Ozen, S" sort="Ozen, S" uniqKey="Ozen S" first="S" last="Ozen">S. Ozen</name><affiliation wicri:level="1"><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Rheumatology and Nephrology at Hacettepe University, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Phylactou, L" sort="Phylactou, L" uniqKey="Phylactou L" first="L" last="Phylactou">L. Phylactou</name><affiliation wicri:level="1"><country xml:lang="fr">Chypre (pays)</country><wicri:regionArea>Department of Molecular Genetics, Function and Therapy, Cyprus Institute of Neurology and Genetics, Nicosia</wicri:regionArea><wicri:noRegion>Nicosia</wicri:noRegion></affiliation></author><author><name sortKey="Risom, L" sort="Risom, L" uniqKey="Risom L" first="L" last="Risom">L. Risom</name><affiliation wicri:level="3"><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Rowczenio, D" sort="Rowczenio, D" uniqKey="Rowczenio D" first="D" last="Rowczenio">D. Rowczenio</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Amyloidosis Centre, UCL Medical School, 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="Sarkisian, T" sort="Sarkisian, T" uniqKey="Sarkisian T" first="T" last="Sarkisian">T. Sarkisian</name><affiliation wicri:level="1"><country xml:lang="fr">Arménie</country><wicri:regionArea>Center of Medical Genetics and Primary Health Care, Yerevan</wicri:regionArea><wicri:noRegion>Yerevan</wicri:noRegion></affiliation></author><author><name sortKey="Van Gijn, M E" sort="Van Gijn, M E" uniqKey="Van Gijn M" first="M E" last="Van Gijn">M E Van Gijn</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Genome Diagnostics, Biomedical Genetics, University Medical Center Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Witsch Baumgartner, M" sort="Witsch Baumgartner, M" uniqKey="Witsch Baumgartner M" first="M" last="Witsch-Baumgartner">M. Witsch-Baumgartner</name><affiliation wicri:level="1"><country xml:lang="fr">Autriche</country><wicri:regionArea>Medical University Innsbruck, Sektion Humangenetik, Innsbruck</wicri:regionArea><wicri:noRegion>Innsbruck</wicri:noRegion></affiliation></author><author><name sortKey="Morris, M" sort="Morris, M" uniqKey="Morris M" first="M" last="Morris">M. Morris</name><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals, Genève</wicri:regionArea><wicri:noRegion>Genève</wicri:noRegion></affiliation></author><author><name sortKey="Hoffman, H M" sort="Hoffman, H M" uniqKey="Hoffman H" first="H M" last="Hoffman">H M Hoffman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of California at San Diego, La Jolla, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Touitou, I" sort="Touitou, I" uniqKey="Touitou I" first="I" last="Touitou">I. Touitou</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CHRU Montpellier, INSERM U844, Université UM1, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of the Rheumatic Diseases</title><title level="j" type="abbrev">Ann Rheum Dis</title><idno type="ISSN">0003-4967</idno><idno type="eISSN">1468-2060</idno><imprint><publisher>BMJ Publishing Group Ltd and European League Against Rheumatism</publisher><date type="published" when="2012-10">2012-10</date><biblScope unit="volume">71</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1599">1599</biblScope></imprint><idno type="ISSN">0003-4967</idno></series><idno type="istex">30D0A70C981BD2F8DD91F171E018CC5069790381</idno><idno type="DOI">10.1136/annrheumdis-2011-201271</idno><idno type="href">annrheumdis-71-1599.pdf</idno><idno type="ArticleID">annrheumdis-2011-201271</idno><idno type="PMID">22661645</idno><idno type="local">annrheumdis;71/10/1599</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0003-4967</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity. Discovery of the molecular defects responsible for these diseases has initiated genetic diagnostics in many countries around the world, including the Middle East, Europe, USA, Japan and Australia. However, diverse testing methods and reporting practices are employed and there is a clear need for consensus guidelines for HRF genetic testing. Draft guidelines were prepared based on current practice deduced from previous HRF external quality assurance schemes and data from the literature. The draft document was disseminated through the European Molecular Genetics Quality Network for broader consultation and amendment. A workshop was held in Bruges (Belgium) on 18 and 19 September 2011 to ratify the draft and obtain a final consensus document. An agreed set of best practice guidelines was proposed for genetic diagnostic testing of HRFs, for reporting the genetic results and for defining their clinical significance.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Arménie</li><li>Australie</li><li>Autriche</li><li>Belgique</li><li>Chypre (pays)</li><li>Danemark</li><li>France</li><li>Israël</li><li>Italie</li><li>Japon</li><li>Pays-Bas</li><li>Pologne</li><li>Royaume-Uni</li><li>Suisse</li><li>Turquie</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Californie</li><li>Grand Londres</li><li>Hovedstaden</li><li>Maryland</li><li>Région de Bruxelles-Capitale</li><li>Utrecht (province)</li></region><settlement><li>Bruxelles</li><li>Copenhague</li><li>Londres</li><li>Montpellier</li><li>Paris</li><li>Sydney</li><li>Utrecht</li></settlement></list><tree><noCountry><name sortKey="Moix, I" sort="Moix, I" uniqKey="Moix I" first="I" last="Moix">I. Moix</name></noCountry><country name="Israël"><noRegion><name sortKey="Shinar, Y" sort="Shinar, Y" uniqKey="Shinar Y" first="Y" last="Shinar">Y. Shinar</name></noRegion><name sortKey="Lezer, S" sort="Lezer, S" uniqKey="Lezer S" first="S" last="Lezer">S. Lezer</name><name sortKey="Livneh, A" sort="Livneh, A" uniqKey="Livneh A" first="A" last="Livneh">A. Livneh</name></country><country name="Italie"><noRegion><name sortKey="Obici, L" sort="Obici, L" uniqKey="Obici L" first="L" last="Obici">L. Obici</name></noRegion><name sortKey="Ceccherini, I" sort="Ceccherini, I" uniqKey="Ceccherini I" first="I" last="Ceccherini">I. Ceccherini</name><name sortKey="Gattorno, M" sort="Gattorno, M" uniqKey="Gattorno M" first="M" last="Gattorno">M. Gattorno</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Aksentijevich, I" sort="Aksentijevich, I" uniqKey="Aksentijevich I" first="I" last="Aksentijevich">I. Aksentijevich</name></region><name sortKey="Hoffman, H M" sort="Hoffman, H M" uniqKey="Hoffman H" first="H M" last="Hoffman">H M Hoffman</name></country><country name="Australie"><noRegion><name sortKey="Bennetts, B" sort="Bennetts, B" uniqKey="Bennetts B" first="B" last="Bennetts">B. Bennetts</name></noRegion></country><country name="Allemagne"><noRegion><name sortKey="Austrup, F" sort="Austrup, F" uniqKey="Austrup F" first="F" last="Austrup">F. Austrup</name></noRegion></country><country name="France"><noRegion><name sortKey="Costa, J M" sort="Costa, J M" uniqKey="Costa J" first="J M" last="Costa">J M Costa</name></noRegion><name sortKey="Kone Paut, I" sort="Kone Paut, I" uniqKey="Kone Paut I" first="I" last="Kone-Paut">I. Kone-Paut</name><name sortKey="Touitou, I" sort="Touitou, I" uniqKey="Touitou I" first="I" last="Touitou">I. 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Witsch-Baumgartner</name></noRegion></country><country name="Suisse"><noRegion><name sortKey="Morris, M" sort="Morris, M" uniqKey="Morris M" first="M" last="Morris">M. Morris</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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