Guidelines for the genetic diagnosis of hereditary recurrent fevers
Identifieur interne : 001067 ( Istex/Curation ); précédent : 001066; suivant : 001068Guidelines 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.
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DOI: 10.1136/annrheumdis-2011-201271
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Ceccherini</name><affiliation wicri:level="1"><mods:affiliation>Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova</wicri:regionArea></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"><mods:affiliation>Department of Molecular Genetics, Laboratoire Cerba, Cergy-Pontoise, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Molecular Genetics, Laboratoire Cerba, Cergy-Pontoise</wicri:regionArea></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="1"><mods:affiliation>Department of Human Genetics ULB, Hopital Erasme, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Human Genetics ULB, Hopital Erasme, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Gattorno, M" sort="Gattorno, M" uniqKey="Gattorno M" first="M" last="Gattorno">M. Gattorno</name><affiliation wicri:level="1"><mods:affiliation>UO Pediatria II – Reumatologia, Istituto G Gaslini, Genova, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>UO Pediatria II – Reumatologia, Istituto G Gaslini, Genova</wicri:regionArea></affiliation></author><author><name sortKey="Kania, U" sort="Kania, U" uniqKey="Kania U" first="U" last="Kania">U. Kania</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, Polish-American Children's Hospital Jagiellonian University Medical College, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Pediatrics, Polish-American Children's Hospital Jagiellonian University Medical College</wicri:regionArea></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"><mods:affiliation>Department of Paediatric and Paediatric Rheumatology, Reference center for autoinflammatory diseases CEREMAI, Kremlin-Bicêtre Hospital, APHP, University of Paris SUD, Paris, France</mods:affiliation><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></affiliation></author><author><name sortKey="Lezer, S" sort="Lezer, S" uniqKey="Lezer S" first="S" last="Lezer">S. Lezer</name><affiliation wicri:level="1"><mods:affiliation>Pronto diagnostics, Tel Aviv, Israel</mods:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Pronto diagnostics, Tel Aviv</wicri:regionArea></affiliation></author><author><name sortKey="Livneh, A" sort="Livneh, A" uniqKey="Livneh A" first="A" last="Livneh">A. Livneh</name><affiliation wicri:level="1"><mods:affiliation>Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Tel-Aviv University, Tel-Aviv, Israel</mods:affiliation><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></affiliation></author><author><name sortKey="Moix, I" sort="Moix, I" uniqKey="Moix I" first="I" last="Moix">I. Moix</name><affiliation><mods:affiliation>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</mods: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"><mods:affiliation>Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto</wicri:regionArea></affiliation></author><author><name sortKey="Ozen, S" sort="Ozen, S" uniqKey="Ozen S" first="S" last="Ozen">S. Ozen</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatric Rheumatology and Nephrology at Hacettepe University, Ankara, Turkey</mods:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Rheumatology and Nephrology at Hacettepe University, Ankara</wicri:regionArea></affiliation></author><author><name sortKey="Phylactou, L" sort="Phylactou, L" uniqKey="Phylactou L" first="L" last="Phylactou">L. Phylactou</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Genetics, Function and Therapy, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus</mods:affiliation><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></affiliation></author><author><name sortKey="Risom, L" sort="Risom, L" uniqKey="Risom L" first="L" last="Risom">L. Risom</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark</mods:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen</wicri:regionArea></affiliation></author><author><name sortKey="Rowczenio, D" sort="Rowczenio, D" uniqKey="Rowczenio D" first="D" last="Rowczenio">D. Rowczenio</name><affiliation wicri:level="1"><mods:affiliation>National Amyloidosis Centre, UCL Medical School, London, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Amyloidosis Centre, UCL Medical School, London</wicri:regionArea></affiliation></author><author><name sortKey="Sarkisian, T" sort="Sarkisian, T" uniqKey="Sarkisian T" first="T" last="Sarkisian">T. Sarkisian</name><affiliation wicri:level="1"><mods:affiliation>Center of Medical Genetics and Primary Health Care, Yerevan, Armenia</mods:affiliation><country xml:lang="fr">Arménie</country><wicri:regionArea>Center of Medical Genetics and Primary Health Care, Yerevan</wicri:regionArea></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="1"><mods:affiliation>Genome Diagnostics, Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Genome Diagnostics, Biomedical Genetics, University Medical Center Utrecht, Utrecht</wicri:regionArea></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"><mods:affiliation>Medical University Innsbruck, Sektion Humangenetik, Innsbruck, Austria</mods:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Medical University Innsbruck, Sektion Humangenetik, Innsbruck</wicri:regionArea></affiliation></author><author><name sortKey="Morris, M" sort="Morris, M" uniqKey="Morris M" first="M" last="Morris">M. Morris</name><affiliation wicri:level="1"><mods:affiliation>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals, Genève, Switzerland</mods:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals, Genève</wicri:regionArea></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="1"><mods:affiliation>Department of Pediatrics, University of California at San Diego, La Jolla, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of California at San Diego, La Jolla, California</wicri:regionArea></affiliation></author><author><name sortKey="Touitou, I" sort="Touitou, I" uniqKey="Touitou I" first="I" last="Touitou">I. Touitou</name><affiliation wicri:level="1"><mods:affiliation>CHRU Montpellier, INSERM U844, Université UM1, Montpellier, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHRU Montpellier, INSERM U844, Université UM1, Montpellier</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:30D0A70C981BD2F8DD91F171E018CC5069790381</idno><date when="2012" year="2012">2012</date><idno type="doi">10.1136/annrheumdis-2011-201271</idno><idno type="url">https://api.istex.fr/document/30D0A70C981BD2F8DD91F171E018CC5069790381/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001091</idno><idno type="wicri:Area/Istex/Curation">001067</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">Guidelines for the genetic diagnosis of hereditary recurrent fevers</title><author><name sortKey="Shinar, Y" sort="Shinar, Y" uniqKey="Shinar Y" first="Y" last="Shinar">Y. Shinar</name><affiliation wicri:level="1"><mods:affiliation>Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer, Israel</mods:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer</wicri:regionArea></affiliation></author><author><name sortKey="Obici, L" sort="Obici, L" uniqKey="Obici L" first="L" last="Obici">L. Obici</name><affiliation wicri:level="1"><mods:affiliation>Amyloid Center, Biotechnology Research Laboratories, Fondazione IRCCS, Policlinico San Matteo, Pavia, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Amyloid Center, Biotechnology Research Laboratories, Fondazione IRCCS, Policlinico San Matteo, Pavia</wicri:regionArea></affiliation></author><author><name sortKey="Aksentijevich, I" sort="Aksentijevich, I" uniqKey="Aksentijevich I" first="I" last="Aksentijevich">I. Aksentijevich</name><affiliation wicri:level="1"><mods:affiliation>National Human Genome Research Institute, Bethesda, Maryland, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>National Human Genome Research Institute, Bethesda, Maryland</wicri:regionArea></affiliation></author><author><name sortKey="Bennetts, B" sort="Bennetts, B" uniqKey="Bennetts B" first="B" last="Bennetts">B. Bennetts</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Genetics, The Children's Hospital at Westmead, Sydney, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Molecular Genetics, The Children's Hospital at Westmead, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Austrup, F" sort="Austrup, F" uniqKey="Austrup F" first="F" last="Austrup">F. Austrup</name><affiliation wicri:level="1"><mods:affiliation>Department of Human Genetics, LADR-MVZ Recklinghausen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, LADR-MVZ Recklinghausen</wicri:regionArea></affiliation></author><author><name sortKey="Ceccherini, I" sort="Ceccherini, I" uniqKey="Ceccherini I" first="I" last="Ceccherini">I. Ceccherini</name><affiliation wicri:level="1"><mods:affiliation>Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova</wicri:regionArea></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"><mods:affiliation>Department of Molecular Genetics, Laboratoire Cerba, Cergy-Pontoise, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Molecular Genetics, Laboratoire Cerba, Cergy-Pontoise</wicri:regionArea></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="1"><mods:affiliation>Department of Human Genetics ULB, Hopital Erasme, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Human Genetics ULB, Hopital Erasme, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Gattorno, M" sort="Gattorno, M" uniqKey="Gattorno M" first="M" last="Gattorno">M. Gattorno</name><affiliation wicri:level="1"><mods:affiliation>UO Pediatria II – Reumatologia, Istituto G Gaslini, Genova, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>UO Pediatria II – Reumatologia, Istituto G Gaslini, Genova</wicri:regionArea></affiliation></author><author><name sortKey="Kania, U" sort="Kania, U" uniqKey="Kania U" first="U" last="Kania">U. Kania</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, Polish-American Children's Hospital Jagiellonian University Medical College, Poland</mods:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Pediatrics, Polish-American Children's Hospital Jagiellonian University Medical College</wicri:regionArea></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"><mods:affiliation>Department of Paediatric and Paediatric Rheumatology, Reference center for autoinflammatory diseases CEREMAI, Kremlin-Bicêtre Hospital, APHP, University of Paris SUD, Paris, France</mods:affiliation><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></affiliation></author><author><name sortKey="Lezer, S" sort="Lezer, S" uniqKey="Lezer S" first="S" last="Lezer">S. Lezer</name><affiliation wicri:level="1"><mods:affiliation>Pronto diagnostics, Tel Aviv, Israel</mods:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Pronto diagnostics, Tel Aviv</wicri:regionArea></affiliation></author><author><name sortKey="Livneh, A" sort="Livneh, A" uniqKey="Livneh A" first="A" last="Livneh">A. Livneh</name><affiliation wicri:level="1"><mods:affiliation>Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Tel-Aviv University, Tel-Aviv, Israel</mods:affiliation><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></affiliation></author><author><name sortKey="Moix, I" sort="Moix, I" uniqKey="Moix I" first="I" last="Moix">I. Moix</name><affiliation><mods:affiliation>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</mods: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"><mods:affiliation>Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto</wicri:regionArea></affiliation></author><author><name sortKey="Ozen, S" sort="Ozen, S" uniqKey="Ozen S" first="S" last="Ozen">S. Ozen</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatric Rheumatology and Nephrology at Hacettepe University, Ankara, Turkey</mods:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Rheumatology and Nephrology at Hacettepe University, Ankara</wicri:regionArea></affiliation></author><author><name sortKey="Phylactou, L" sort="Phylactou, L" uniqKey="Phylactou L" first="L" last="Phylactou">L. Phylactou</name><affiliation wicri:level="1"><mods:affiliation>Department of Molecular Genetics, Function and Therapy, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus</mods:affiliation><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></affiliation></author><author><name sortKey="Risom, L" sort="Risom, L" uniqKey="Risom L" first="L" last="Risom">L. Risom</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark</mods:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen</wicri:regionArea></affiliation></author><author><name sortKey="Rowczenio, D" sort="Rowczenio, D" uniqKey="Rowczenio D" first="D" last="Rowczenio">D. Rowczenio</name><affiliation wicri:level="1"><mods:affiliation>National Amyloidosis Centre, UCL Medical School, London, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Amyloidosis Centre, UCL Medical School, London</wicri:regionArea></affiliation></author><author><name sortKey="Sarkisian, T" sort="Sarkisian, T" uniqKey="Sarkisian T" first="T" last="Sarkisian">T. Sarkisian</name><affiliation wicri:level="1"><mods:affiliation>Center of Medical Genetics and Primary Health Care, Yerevan, Armenia</mods:affiliation><country xml:lang="fr">Arménie</country><wicri:regionArea>Center of Medical Genetics and Primary Health Care, Yerevan</wicri:regionArea></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="1"><mods:affiliation>Genome Diagnostics, Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands</mods:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Genome Diagnostics, Biomedical Genetics, University Medical Center Utrecht, Utrecht</wicri:regionArea></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"><mods:affiliation>Medical University Innsbruck, Sektion Humangenetik, Innsbruck, Austria</mods:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Medical University Innsbruck, Sektion Humangenetik, Innsbruck</wicri:regionArea></affiliation></author><author><name sortKey="Morris, M" sort="Morris, M" uniqKey="Morris M" first="M" last="Morris">M. Morris</name><affiliation wicri:level="1"><mods:affiliation>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals, Genève, Switzerland</mods:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals, Genève</wicri:regionArea></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="1"><mods:affiliation>Department of Pediatrics, University of California at San Diego, La Jolla, California, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of California at San Diego, La Jolla, California</wicri:regionArea></affiliation></author><author><name sortKey="Touitou, I" sort="Touitou, I" uniqKey="Touitou I" first="I" last="Touitou">I. Touitou</name><affiliation wicri:level="1"><mods:affiliation>CHRU Montpellier, INSERM U844, Université UM1, Montpellier, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHRU Montpellier, INSERM U844, Université UM1, Montpellier</wicri:regionArea></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></record>Pour manipuler ce document sous Unix (Dilib)
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