Guidelines for the genetic diagnosis of hereditary recurrent fevers
Identifieur interne : 000E42 ( Ncbi/Curation ); précédent : 000E41; suivant : 000E43Guidelines 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.
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
PubMed: 22661645
PubMed Central: 3500529
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I. Moix<affiliation><nlm:aff id="A14">Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</nlm:aff>
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<affiliation wicri:level="3"><nlm:aff id="A11">Department of Paediatric and Paediatric Rheumatology, Reference center for autoinflammatory diseases CEREMAI, Kremlin-Bicêtre Hospital, APHP, University of Paris SUD, Paris, France</nlm:aff>
<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><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="Lezer, S" sort="Lezer, S" uniqKey="Lezer S" first="S" last="Lezer">S. Lezer</name>
<affiliation wicri:level="1"><nlm:aff id="A12">Pronto diagnostics, Tel Aviv, Israel</nlm:aff>
<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"><nlm:aff id="A13">Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Tel-Aviv University, Tel-Aviv, Israel</nlm:aff>
<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><nlm:aff id="A14">Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</nlm:aff>
<wicri:noCountry code="subfield">Geneva University 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"><nlm:aff id="A15">Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan</nlm:aff>
<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"><nlm:aff id="A16">Department of Pediatric Rheumatology and Nephrology at Hacettepe University, Ankara, Turkey</nlm:aff>
<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"><nlm:aff id="A17">Department of Molecular Genetics, Function and Therapy, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus</nlm:aff>
<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"><nlm:aff id="A18">Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark</nlm:aff>
<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"><nlm:aff id="A19">National Amyloidosis Centre, UCL Medical School, London, UK</nlm:aff>
<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"><nlm:aff id="A20">Center of Medical Genetics and Primary Health Care, Yerevan, Armenia</nlm:aff>
<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"><nlm:aff id="A21">Genome Diagnostics, Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands</nlm:aff>
<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"><nlm:aff id="A22">Medical University Innsbruck, Sektion Humangenetik, Innsbruck, Austria</nlm:aff>
<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"><nlm:aff id="A23">Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals, Genève, Switzerland</nlm:aff>
<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"><nlm:aff id="A24">Department of Pediatrics, University of California at San Diego, La Jolla, California, USA</nlm:aff>
<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="3"><nlm:aff id="A25">CHRU Montpellier, INSERM U844, Université UM1, Montpellier, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CHRU Montpellier, INSERM U844, Université UM1, Montpellier</wicri:regionArea>
<placeName><region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Annals of the Rheumatic Diseases</title>
<idno type="ISSN">0003-4967</idno>
<idno type="eISSN">1468-2060</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
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<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>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.</p>
<p>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.</p>
</div>
</front>
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