Guidelines for the genetic diagnosis of hereditary recurrent fevers
Identifieur interne : 002100 ( Pmc/Curation ); précédent : 002099; suivant : 002101Guidelines 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.
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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><wicri:noCountry code="subfield">Geneva University Hospitals</wicri:noCountry></affiliation>Le document en format XML
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Obici</name><affiliation wicri:level="1"><nlm:aff id="A2">Amyloid Center, Biotechnology Research Laboratories, Fondazione IRCCS, Policlinico San Matteo, Pavia, Italy</nlm:aff><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"><nlm:aff id="A3">National Human Genome Research Institute, Bethesda, Maryland, USA</nlm:aff><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"><nlm:aff id="A4">Department of Molecular Genetics, The Children's Hospital at Westmead, Sydney, Australia</nlm:aff><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"><nlm:aff id="A5">Department of Human Genetics, LADR-MVZ Recklinghausen, Germany</nlm:aff><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"><nlm:aff id="A6">Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy</nlm:aff><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"><nlm:aff id="A7">Department of Molecular Genetics, Laboratoire Cerba, Cergy-Pontoise, France</nlm:aff><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"><nlm:aff id="A8">Department of Human Genetics ULB, Hopital Erasme, Brussels, Belgium</nlm:aff><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"><nlm:aff id="A9">UO Pediatria II – Reumatologia, Istituto G Gaslini, Genova, Italy</nlm:aff><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"><nlm:aff id="A10">Department of Pediatrics, Polish-American Children's Hospital Jagiellonian University Medical College, Poland</nlm:aff><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"><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></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></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></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></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></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></affiliation></author><author><name sortKey="Risom, L" sort="Risom, L" uniqKey="Risom L" first="L" last="Risom">L. Risom</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Rowczenio, D" sort="Rowczenio, D" uniqKey="Rowczenio D" first="D" last="Rowczenio">D. Rowczenio</name><affiliation wicri:level="1"><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></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></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"><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></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></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></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"><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></affiliation></author><author><name sortKey="Touitou, I" sort="Touitou, I" uniqKey="Touitou I" first="I" last="Touitou">I. Touitou</name><affiliation wicri:level="1"><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></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22661645</idno><idno type="pmc">3500529</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500529</idno><idno type="RBID">PMC:3500529</idno><idno type="doi">10.1136/annrheumdis-2011-201271</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">002250</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002250</idno><idno type="wicri:Area/Pmc/Curation">002100</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002100</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">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"><nlm:aff id="A1">Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer, Israel</nlm:aff><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"><nlm:aff id="A2">Amyloid Center, Biotechnology Research Laboratories, Fondazione IRCCS, Policlinico San Matteo, Pavia, Italy</nlm:aff><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"><nlm:aff id="A3">National Human Genome Research Institute, Bethesda, Maryland, USA</nlm:aff><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"><nlm:aff id="A4">Department of Molecular Genetics, The Children's Hospital at Westmead, Sydney, Australia</nlm:aff><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"><nlm:aff id="A5">Department of Human Genetics, LADR-MVZ Recklinghausen, Germany</nlm:aff><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"><nlm:aff id="A6">Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy</nlm:aff><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"><nlm:aff id="A7">Department of Molecular Genetics, Laboratoire Cerba, Cergy-Pontoise, France</nlm:aff><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"><nlm:aff id="A8">Department of Human Genetics ULB, Hopital Erasme, Brussels, Belgium</nlm:aff><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"><nlm:aff id="A9">UO Pediatria II – Reumatologia, Istituto G Gaslini, Genova, Italy</nlm:aff><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"><nlm:aff id="A10">Department of Pediatrics, Polish-American Children's Hospital Jagiellonian University Medical College, Poland</nlm:aff><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"><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></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></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></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></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></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></affiliation></author><author><name sortKey="Risom, L" sort="Risom, L" uniqKey="Risom L" first="L" last="Risom">L. Risom</name><affiliation wicri:level="1"><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></affiliation></author><author><name sortKey="Rowczenio, D" sort="Rowczenio, D" uniqKey="Rowczenio D" first="D" last="Rowczenio">D. Rowczenio</name><affiliation wicri:level="1"><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></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></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"><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></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></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></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"><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></affiliation></author><author><name sortKey="Touitou, I" sort="Touitou, I" uniqKey="Touitou I" first="I" last="Touitou">I. Touitou</name><affiliation wicri:level="1"><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></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></fileDesc><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. 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Ann Rheum Dis</journal-id><journal-id journal-id-type="iso-abbrev">Ann. Rheum. Dis</journal-id><journal-id journal-id-type="hwp">annrheumdis</journal-id><journal-id journal-id-type="publisher-id">ard</journal-id><journal-title-group><journal-title>Annals of the Rheumatic Diseases</journal-title></journal-title-group><issn pub-type="ppub">0003-4967</issn><issn pub-type="epub">1468-2060</issn><publisher><publisher-name>BMJ Group</publisher-name><publisher-loc>BMA House, Tavistock Square, London, WC1H 9JR</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22661645</article-id><article-id pub-id-type="pmc">3500529</article-id><article-id pub-id-type="publisher-id">annrheumdis-2011-201271</article-id><article-id pub-id-type="doi">10.1136/annrheumdis-2011-201271</article-id><article-categories><subj-group subj-group-type="heading"><subject>Recommendation</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>1506</subject></subj-group></article-categories><title-group><article-title>Guidelines for the genetic diagnosis of hereditary recurrent fevers</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Shinar</surname><given-names>Y</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Obici</surname><given-names>L</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Aksentijevich</surname><given-names>I</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Bennetts</surname><given-names>B</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Austrup</surname><given-names>F</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Ceccherini</surname><given-names>I</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Costa</surname><given-names>J M</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>De Leener</surname><given-names>A</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Gattorno</surname><given-names>M</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Kania</surname><given-names>U</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Kone-Paut</surname><given-names>I</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Lezer</surname><given-names>S</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Livneh</surname><given-names>A</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Moix</surname><given-names>I</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Nishikomori</surname><given-names>R</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Ozen</surname><given-names>S</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Phylactou</surname><given-names>L</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Risom</surname><given-names>L</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Rowczenio</surname><given-names>D</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Sarkisian</surname><given-names>T</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>van Gijn</surname><given-names>M E</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Witsch-Baumgartner</surname><given-names>M</given-names></name><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Morris</surname><given-names>M</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Hoffman</surname><given-names>H M</given-names></name><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Touitou</surname><given-names>I</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib></contrib-group><aff id="A1"><label>1</label>Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer, Israel</aff><aff id="A2"><label>2</label>Amyloid Center, Biotechnology Research Laboratories, Fondazione IRCCS, Policlinico San Matteo, Pavia, Italy</aff><aff id="A3"><label>3</label>National Human Genome Research Institute, Bethesda, Maryland, USA</aff><aff id="A4"><label>4</label>Department of Molecular Genetics, The Children's Hospital at Westmead, Sydney, Australia</aff><aff id="A5"><label>5</label>Department of Human Genetics, LADR-MVZ Recklinghausen, Germany</aff><aff id="A6"><label>6</label>Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy</aff><aff id="A7"><label>7</label>Department of Molecular Genetics, Laboratoire Cerba, Cergy-Pontoise, France</aff><aff id="A8"><label>8</label>Department of Human Genetics ULB, Hopital Erasme, Brussels, Belgium</aff><aff id="A9"><label>9</label>UO Pediatria II – Reumatologia, Istituto G Gaslini, Genova, Italy</aff><aff id="A10"><label>10</label>Department of Pediatrics, Polish-American Children's Hospital Jagiellonian University Medical College, Poland</aff><aff id="A11"><label>11</label>Department of Paediatric and Paediatric Rheumatology, Reference center for autoinflammatory diseases CEREMAI, Kremlin-Bicêtre Hospital, APHP, University of Paris SUD, Paris, France</aff><aff id="A12"><label>12</label>Pronto diagnostics, Tel Aviv, Israel</aff><aff id="A13"><label>13</label>Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Tel-Aviv University, Tel-Aviv, Israel</aff><aff id="A14"><label>14</label>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</aff><aff id="A15"><label>15</label>Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan</aff><aff id="A16"><label>16</label>Department of Pediatric Rheumatology and Nephrology at Hacettepe University, Ankara, Turkey</aff><aff id="A17"><label>17</label>Department of Molecular Genetics, Function and Therapy, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus</aff><aff id="A18"><label>18</label>Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark</aff><aff id="A19"><label>19</label>National Amyloidosis Centre, UCL Medical School, London, UK</aff><aff id="A20"><label>20</label>Center of Medical Genetics and Primary Health Care, Yerevan, Armenia</aff><aff id="A21"><label>21</label>Genome Diagnostics, Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands</aff><aff id="A22"><label>22</label>Medical University Innsbruck, Sektion Humangenetik, Innsbruck, Austria</aff><aff id="A23"><label>23</label>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals, Genève, Switzerland</aff><aff id="A24"><label>24</label>Department of Pediatrics, University of California at San Diego, La Jolla, California, USA</aff><aff id="A25"><label>25</label>CHRU Montpellier, INSERM U844, Université UM1, Montpellier, France</aff><author-notes><corresp><label>Correspondence to</label> Isabelle Touitou, Unité médicale des maladies autoinflammatoires, CHRU Montpellier, INSERM U844, Université UM1, Montpellier, France; <email>isabelle.touitou@inserm.fr</email></corresp></author-notes><pub-date pub-type="ppub"><month>10</month><year>2012</year></pub-date><volume>71</volume><issue>10</issue><fpage>1599</fpage><lpage>1605</lpage><history><date date-type="accepted"><day>8</day><month>4</month><year>2012</year></date></history><permissions><copyright-statement>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions</copyright-statement><copyright-year>2012</copyright-year><license license-type="open-access"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/">http://creativecommons.org/licenses/by-nc/3.0/</ext-link> and <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/legalcode">http://creativecommons.org/licenses/by-nc/3.0/legalcode</ext-link></license-p></license></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="annrheumdis-2011-201271.pdf"></self-uri><abstract><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></abstract><custom-meta-group><custom-meta><meta-name>special-feature</meta-name><meta-value>unlocked</meta-value></custom-meta></custom-meta-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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