Guidelines for the genetic diagnosis of hereditary recurrent fevers
Identifieur interne : 001075 ( PascalFrancis/Checkpoint ); précédent : 001074; suivant : 001076Guidelines 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 [Suisse] ; 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. Hoff Man [États-Unis] ; I. Touitou [France]Source :
- Annals of the rheumatic diseases [ 0003-4967 ] ; 2012.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Génétique.
English descriptors
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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.
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, Languedoc-Roussillon, Maryland, Nouvelle-Galles du Sud, Occitanie (région administrative), Région de Bruxelles-Capitale, Utrecht (province), Île-de-France
- Bruxelles, Copenhague, Londres, Montpellier, Paris, Sydney, Utrecht
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" 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"><inist:fA14 i1="01"><s1>Heller Institute of Medical Research, Sheba Medical Center</s1><s2>Tel Hashomer</s2><s3>ISR</s3><sZ>1 aut.</sZ></inist:fA14><country>Israël</country><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"><inist:fA14 i1="02"><s1>Amyloid Center, Biotechnology Research Laboratories, Fondazione IRCCS, Policlinico San Matteo</s1><s2>Pavia</s2><s3>ITA</s3><sZ>2 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Aksentijevich, I" sort="Aksentijevich, I" uniqKey="Aksentijevich I" first="I." last="Aksentijevich">I. Aksentijevich</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>National Human Genome Research Institute</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Bennetts, B" sort="Bennetts, B" uniqKey="Bennetts B" first="B." last="Bennetts">B. Bennetts</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Molecular Genetics, The Children's Hospital at Westmead</s1><s2>Sydney</s2><s3>AUS</s3><sZ>4 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Austrup, F" sort="Austrup, F" uniqKey="Austrup F" first="F." last="Austrup">F. Austrup</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, LADR-MVZ Recklinghausen</s1><s3>DEU</s3><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>LADR-MVZ Recklinghausen</wicri:noRegion><wicri:noRegion>Department of Human Genetics, LADR-MVZ Recklinghausen</wicri:noRegion></affiliation></author><author><name sortKey="Ceccherini, I" sort="Ceccherini, I" uniqKey="Ceccherini I" first="I." last="Ceccherini">I. Ceccherini</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini</s1><s2>Genova</s2><s3>ITA</s3><sZ>6 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="07"><s1>Department of Molecular Genetics, Laboratoire Cerba</s1><s2>Cergy-Pontoise</s2><s3>FRA</s3><sZ>7 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Cergy-Pontoise</wicri:noRegion><wicri:noRegion>Laboratoire Cerba</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"><inist:fA14 i1="08"><s1>Department of Human Genetics ULB, Hopital Erasme</s1><s2>Brussels</s2><s3>BEL</s3><sZ>8 aut.</sZ></inist:fA14><country>Belgique</country><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"><inist:fA14 i1="09"><s1>UO Pediatria II - Reumatologia, Istituto G Gaslini</s1><s2>Genova</s2><s3>ITA</s3><sZ>9 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="10"><s1>Department of Pediatrics, Polish-American Children's Hospital Jagiellonian University Medical College</s1><s3>POL</s3><sZ>10 aut.</sZ></inist:fA14><country>Pologne</country><wicri:noRegion>Department of Pediatrics, 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="3"><inist:fA14 i1="11"><s1>Department of Paediatric and Paediatric Rheumatology, Reference center for autoinflammatory diseases CEREMAI, Kremlin-Bicêtre Hospital, APHP, University of Paris SUD</s1><s2>Paris</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><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"><inist:fA14 i1="12"><s1>Pronto diagnostics</s1><s2>Tel Aviv</s2><s3>ISR</s3><sZ>12 aut.</sZ></inist:fA14><country>Israël</country><wicri:noRegion>Pronto diagnostics</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"><inist:fA14 i1="13"><s1>Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Tel-Aviv University</s1><s2>Tel-Aviv</s2><s3>ISR</s3><sZ>13 aut.</sZ></inist:fA14><country>Israël</country><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:level="1"><inist:fA14 i1="14"><s1>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</s1><s3>CHE</s3><sZ>14 aut.</sZ></inist:fA14><country>Suisse</country><wicri:noRegion>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</wicri:noRegion></affiliation></author><author><name sortKey="Nishikomori, R" sort="Nishikomori, R" uniqKey="Nishikomori R" first="R." last="Nishikomori">R. Nishikomori</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Department of Pediatrics, Kyoto University Graduate School of Medicine</s1><s2>Kyoto</s2><s3>JPN</s3><sZ>15 aut.</sZ></inist:fA14><country>Japon</country><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"><inist:fA14 i1="16"><s1>Department of Pediatric Rheumatology and Nephrology at Hacettepe University</s1><s2>Ankara</s2><s3>TUR</s3><sZ>16 aut.</sZ></inist:fA14><country>Turquie</country><wicri:noRegion>Department of Pediatric Rheumatology and Nephrology at Hacettepe University</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"><inist:fA14 i1="17"><s1>Department of Molecular Genetics, Function and Therapy, Cyprus Institute of Neurology and Genetics</s1><s2>Nicosia</s2><s3>CYP</s3><sZ>17 aut.</sZ></inist:fA14><country>Chypre (pays)</country><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"><inist:fA14 i1="18"><s1>Department of Clinical Genetics, Copenhagen University Hospital</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>18 aut.</sZ></inist:fA14><country>Danemark</country><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"><inist:fA14 i1="19"><s1>National Amyloidosis Centre, UCL Medical School</s1><s2>London</s2><s3>GBR</s3><sZ>19 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="20"><s1>Center of Medical Genetics and Primary Health Care</s1><s2>Yerevan</s2><s3>ARM</s3><sZ>20 aut.</sZ></inist:fA14><country>Arménie</country><wicri:noRegion>Center of Medical Genetics and Primary Health Care</wicri:noRegion></affiliation></author><author><name sortKey="Gijn, M E Van" sort="Gijn, M E Van" uniqKey="Gijn M" first="M. E. Van" last="Gijn">M. E. Van Gijn</name><affiliation wicri:level="3"><inist:fA14 i1="21"><s1>Genome Diagnostics, Biomedical Genetics, University Medical Center Utrecht</s1><s2>Utrecht</s2><s3>NLD</s3><sZ>21 aut.</sZ></inist:fA14><country>Pays-Bas</country><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"><inist:fA14 i1="22"><s1>Medical University Innsbruck, Sektion Humangenetik</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>22 aut.</sZ></inist:fA14><country>Autriche</country><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"><inist:fA14 i1="23"><s1>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</s1><s2>Geneve</s2><s3>CHE</s3><sZ>23 aut.</sZ></inist:fA14><country>Suisse</country><wicri:noRegion>Geneve</wicri:noRegion></affiliation></author><author><name sortKey="Hoff Man, H M" sort="Hoff Man, H M" uniqKey="Hoff Man H" first="H. M." last="Hoff Man">H. M. Hoff Man</name><affiliation wicri:level="2"><inist:fA14 i1="24"><s1>Department of Pediatrics, University of California at San Diego</s1><s2>La Jolla, California</s2><s3>USA</s3><sZ>24 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="25"><s1>CHRU Montpellier, INSERM U844, Universite UM1</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>25 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0385758</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 12-0385758 INIST</idno><idno type="RBID">Pascal:12-0385758</idno><idno type="wicri:Area/PascalFrancis/Corpus">000F67</idno><idno type="wicri:Area/PascalFrancis/Curation">004F51</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001075</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">001075</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" 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"><inist:fA14 i1="01"><s1>Heller Institute of Medical Research, Sheba Medical Center</s1><s2>Tel Hashomer</s2><s3>ISR</s3><sZ>1 aut.</sZ></inist:fA14><country>Israël</country><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"><inist:fA14 i1="02"><s1>Amyloid Center, Biotechnology Research Laboratories, Fondazione IRCCS, Policlinico San Matteo</s1><s2>Pavia</s2><s3>ITA</s3><sZ>2 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Aksentijevich, I" sort="Aksentijevich, I" uniqKey="Aksentijevich I" first="I." last="Aksentijevich">I. Aksentijevich</name><affiliation wicri:level="2"><inist:fA14 i1="03"><s1>National Human Genome Research Institute</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Bennetts, B" sort="Bennetts, B" uniqKey="Bennetts B" first="B." last="Bennetts">B. Bennetts</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Molecular Genetics, The Children's Hospital at Westmead</s1><s2>Sydney</s2><s3>AUS</s3><sZ>4 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Austrup, F" sort="Austrup, F" uniqKey="Austrup F" first="F." last="Austrup">F. Austrup</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, LADR-MVZ Recklinghausen</s1><s3>DEU</s3><sZ>5 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>LADR-MVZ Recklinghausen</wicri:noRegion><wicri:noRegion>Department of Human Genetics, LADR-MVZ Recklinghausen</wicri:noRegion></affiliation></author><author><name sortKey="Ceccherini, I" sort="Ceccherini, I" uniqKey="Ceccherini I" first="I." last="Ceccherini">I. Ceccherini</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini</s1><s2>Genova</s2><s3>ITA</s3><sZ>6 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="07"><s1>Department of Molecular Genetics, Laboratoire Cerba</s1><s2>Cergy-Pontoise</s2><s3>FRA</s3><sZ>7 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Cergy-Pontoise</wicri:noRegion><wicri:noRegion>Laboratoire Cerba</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"><inist:fA14 i1="08"><s1>Department of Human Genetics ULB, Hopital Erasme</s1><s2>Brussels</s2><s3>BEL</s3><sZ>8 aut.</sZ></inist:fA14><country>Belgique</country><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"><inist:fA14 i1="09"><s1>UO Pediatria II - Reumatologia, Istituto G Gaslini</s1><s2>Genova</s2><s3>ITA</s3><sZ>9 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="10"><s1>Department of Pediatrics, Polish-American Children's Hospital Jagiellonian University Medical College</s1><s3>POL</s3><sZ>10 aut.</sZ></inist:fA14><country>Pologne</country><wicri:noRegion>Department of Pediatrics, 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="3"><inist:fA14 i1="11"><s1>Department of Paediatric and Paediatric Rheumatology, Reference center for autoinflammatory diseases CEREMAI, Kremlin-Bicêtre Hospital, APHP, University of Paris SUD</s1><s2>Paris</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><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"><inist:fA14 i1="12"><s1>Pronto diagnostics</s1><s2>Tel Aviv</s2><s3>ISR</s3><sZ>12 aut.</sZ></inist:fA14><country>Israël</country><wicri:noRegion>Pronto diagnostics</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"><inist:fA14 i1="13"><s1>Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Tel-Aviv University</s1><s2>Tel-Aviv</s2><s3>ISR</s3><sZ>13 aut.</sZ></inist:fA14><country>Israël</country><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:level="1"><inist:fA14 i1="14"><s1>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</s1><s3>CHE</s3><sZ>14 aut.</sZ></inist:fA14><country>Suisse</country><wicri:noRegion>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</wicri:noRegion></affiliation></author><author><name sortKey="Nishikomori, R" sort="Nishikomori, R" uniqKey="Nishikomori R" first="R." last="Nishikomori">R. Nishikomori</name><affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Department of Pediatrics, Kyoto University Graduate School of Medicine</s1><s2>Kyoto</s2><s3>JPN</s3><sZ>15 aut.</sZ></inist:fA14><country>Japon</country><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"><inist:fA14 i1="16"><s1>Department of Pediatric Rheumatology and Nephrology at Hacettepe University</s1><s2>Ankara</s2><s3>TUR</s3><sZ>16 aut.</sZ></inist:fA14><country>Turquie</country><wicri:noRegion>Department of Pediatric Rheumatology and Nephrology at Hacettepe University</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"><inist:fA14 i1="17"><s1>Department of Molecular Genetics, Function and Therapy, Cyprus Institute of Neurology and Genetics</s1><s2>Nicosia</s2><s3>CYP</s3><sZ>17 aut.</sZ></inist:fA14><country>Chypre (pays)</country><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"><inist:fA14 i1="18"><s1>Department of Clinical Genetics, Copenhagen University Hospital</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>18 aut.</sZ></inist:fA14><country>Danemark</country><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"><inist:fA14 i1="19"><s1>National Amyloidosis Centre, UCL Medical School</s1><s2>London</s2><s3>GBR</s3><sZ>19 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="20"><s1>Center of Medical Genetics and Primary Health Care</s1><s2>Yerevan</s2><s3>ARM</s3><sZ>20 aut.</sZ></inist:fA14><country>Arménie</country><wicri:noRegion>Center of Medical Genetics and Primary Health Care</wicri:noRegion></affiliation></author><author><name sortKey="Gijn, M E Van" sort="Gijn, M E Van" uniqKey="Gijn M" first="M. E. Van" last="Gijn">M. E. Van Gijn</name><affiliation wicri:level="3"><inist:fA14 i1="21"><s1>Genome Diagnostics, Biomedical Genetics, University Medical Center Utrecht</s1><s2>Utrecht</s2><s3>NLD</s3><sZ>21 aut.</sZ></inist:fA14><country>Pays-Bas</country><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"><inist:fA14 i1="22"><s1>Medical University Innsbruck, Sektion Humangenetik</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>22 aut.</sZ></inist:fA14><country>Autriche</country><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"><inist:fA14 i1="23"><s1>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</s1><s2>Geneve</s2><s3>CHE</s3><sZ>23 aut.</sZ></inist:fA14><country>Suisse</country><wicri:noRegion>Geneve</wicri:noRegion></affiliation></author><author><name sortKey="Hoff Man, H M" sort="Hoff Man, H M" uniqKey="Hoff Man H" first="H. M." last="Hoff Man">H. M. Hoff Man</name><affiliation wicri:level="2"><inist:fA14 i1="24"><s1>Department of Pediatrics, University of California at San Diego</s1><s2>La Jolla, California</s2><s3>USA</s3><sZ>24 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="25"><s1>CHRU Montpellier, INSERM U844, Universite UM1</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>25 aut.</sZ></inist:fA14><country>France</country><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" type="main">Annals of the rheumatic diseases</title><title level="j" type="abbreviated">Ann. rheum. dis.</title><idno type="ISSN">0003-4967</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Annals of the rheumatic diseases</title><title level="j" type="abbreviated">Ann. rheum. dis.</title><idno type="ISSN">0003-4967</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Diagnosis</term><term>Genetics</term><term>Hereditary periodic fever</term><term>Rheumatology</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Fièvre périodique héréditaire</term><term>Génétique</term><term>Diagnostic</term><term>Rhumatologie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0003-4967</s0></fA01><fA02 i1="01"><s0>ARDIAO</s0></fA02><fA03 i2="1"><s0>Ann. rheum. dis.</s0></fA03><fA05><s2>71</s2></fA05><fA06><s2>10</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Guidelines for the genetic diagnosis of hereditary recurrent fevers</s1></fA08><fA11 i1="01" i2="1"><s1>SHINAR (Y.)</s1></fA11><fA11 i1="02" i2="1"><s1>OBICI (L.)</s1></fA11><fA11 i1="03" i2="1"><s1>AKSENTIJEVICH (I.)</s1></fA11><fA11 i1="04" i2="1"><s1>BENNETTS (B.)</s1></fA11><fA11 i1="05" i2="1"><s1>AUSTRUP (F.)</s1></fA11><fA11 i1="06" i2="1"><s1>CECCHERINI (I.)</s1></fA11><fA11 i1="07" i2="1"><s1>COSTA (J. M.)</s1></fA11><fA11 i1="08" i2="1"><s1>DE LEENER (A.)</s1></fA11><fA11 i1="09" i2="1"><s1>GATTORNO (M.)</s1></fA11><fA11 i1="10" i2="1"><s1>KANIA (U.)</s1></fA11><fA11 i1="11" i2="1"><s1>KONE-PAUT (I.)</s1></fA11><fA11 i1="12" i2="1"><s1>LEZER (S.)</s1></fA11><fA11 i1="13" i2="1"><s1>LIVNEH (A.)</s1></fA11><fA11 i1="14" i2="1"><s1>MOIX (I.)</s1></fA11><fA11 i1="15" i2="1"><s1>NISHIKOMORI (R.)</s1></fA11><fA11 i1="16" i2="1"><s1>OZEN (S.)</s1></fA11><fA11 i1="17" i2="1"><s1>PHYLACTOU (L.)</s1></fA11><fA11 i1="18" i2="1"><s1>RISOM (L.)</s1></fA11><fA11 i1="19" i2="1"><s1>ROWCZENIO (D.)</s1></fA11><fA11 i1="20" i2="1"><s1>SARKISIAN (T.)</s1></fA11><fA11 i1="21" i2="1"><s1>GIJN (M. E.van)</s1></fA11><fA11 i1="22" i2="1"><s1>WITSCH-BAUMGARTNER (M.)</s1></fA11><fA11 i1="23" i2="1"><s1>MORRIS (M.)</s1></fA11><fA11 i1="24" i2="1"><s1>HOFF MAN (H. M.)</s1></fA11><fA11 i1="25" i2="1"><s1>TOUITOU (I.)</s1></fA11><fA14 i1="01"><s1>Heller Institute of Medical Research, Sheba Medical Center</s1><s2>Tel Hashomer</s2><s3>ISR</s3><sZ>1 aut.</sZ></fA14><fA14 i1="02"><s1>Amyloid Center, Biotechnology Research Laboratories, Fondazione IRCCS, Policlinico San Matteo</s1><s2>Pavia</s2><s3>ITA</s3><sZ>2 aut.</sZ></fA14><fA14 i1="03"><s1>National Human Genome Research Institute</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>3 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Molecular Genetics, The Children's Hospital at Westmead</s1><s2>Sydney</s2><s3>AUS</s3><sZ>4 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Human Genetics, LADR-MVZ Recklinghausen</s1><s3>DEU</s3><sZ>5 aut.</sZ></fA14><fA14 i1="06"><s1>Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini</s1><s2>Genova</s2><s3>ITA</s3><sZ>6 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Molecular Genetics, Laboratoire Cerba</s1><s2>Cergy-Pontoise</s2><s3>FRA</s3><sZ>7 aut.</sZ></fA14><fA14 i1="08"><s1>Department of Human Genetics ULB, Hopital Erasme</s1><s2>Brussels</s2><s3>BEL</s3><sZ>8 aut.</sZ></fA14><fA14 i1="09"><s1>UO Pediatria II - Reumatologia, Istituto G Gaslini</s1><s2>Genova</s2><s3>ITA</s3><sZ>9 aut.</sZ></fA14><fA14 i1="10"><s1>Department of Pediatrics, Polish-American Children's Hospital Jagiellonian University Medical College</s1><s3>POL</s3><sZ>10 aut.</sZ></fA14><fA14 i1="11"><s1>Department of Paediatric and Paediatric Rheumatology, Reference center for autoinflammatory diseases CEREMAI, Kremlin-Bicêtre Hospital, APHP, University of Paris SUD</s1><s2>Paris</s2><s3>FRA</s3><sZ>11 aut.</sZ></fA14><fA14 i1="12"><s1>Pronto diagnostics</s1><s2>Tel Aviv</s2><s3>ISR</s3><sZ>12 aut.</sZ></fA14><fA14 i1="13"><s1>Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Tel-Aviv University</s1><s2>Tel-Aviv</s2><s3>ISR</s3><sZ>13 aut.</sZ></fA14><fA14 i1="14"><s1>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</s1><s3>CHE</s3><sZ>14 aut.</sZ></fA14><fA14 i1="15"><s1>Department of Pediatrics, Kyoto University Graduate School of Medicine</s1><s2>Kyoto</s2><s3>JPN</s3><sZ>15 aut.</sZ></fA14><fA14 i1="16"><s1>Department of Pediatric Rheumatology and Nephrology at Hacettepe University</s1><s2>Ankara</s2><s3>TUR</s3><sZ>16 aut.</sZ></fA14><fA14 i1="17"><s1>Department of Molecular Genetics, Function and Therapy, Cyprus Institute of Neurology and Genetics</s1><s2>Nicosia</s2><s3>CYP</s3><sZ>17 aut.</sZ></fA14><fA14 i1="18"><s1>Department of Clinical Genetics, Copenhagen University Hospital</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>18 aut.</sZ></fA14><fA14 i1="19"><s1>National Amyloidosis Centre, UCL Medical School</s1><s2>London</s2><s3>GBR</s3><sZ>19 aut.</sZ></fA14><fA14 i1="20"><s1>Center of Medical Genetics and Primary Health Care</s1><s2>Yerevan</s2><s3>ARM</s3><sZ>20 aut.</sZ></fA14><fA14 i1="21"><s1>Genome Diagnostics, Biomedical Genetics, University Medical Center Utrecht</s1><s2>Utrecht</s2><s3>NLD</s3><sZ>21 aut.</sZ></fA14><fA14 i1="22"><s1>Medical University Innsbruck, Sektion Humangenetik</s1><s2>Innsbruck</s2><s3>AUT</s3><sZ>22 aut.</sZ></fA14><fA14 i1="23"><s1>Molecular Diagnostic Laboratory, Service of Medical Genetics, Geneva University Hospitals</s1><s2>Geneve</s2><s3>CHE</s3><sZ>23 aut.</sZ></fA14><fA14 i1="24"><s1>Department of Pediatrics, University of California at San Diego</s1><s2>La Jolla, California</s2><s3>USA</s3><sZ>24 aut.</sZ></fA14><fA14 i1="25"><s1>CHRU Montpellier, INSERM U844, Universite UM1</s1><s2>Montpellier</s2><s3>FRA</s3><sZ>25 aut.</sZ></fA14><fA20><s1>1599-1605</s1></fA20><fA21><s1>2012</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>6381</s2><s5>354000509509310030</s5></fA43><fA44><s0>0000</s0><s1>© 2012 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>28 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>12-0385758</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Annals of the rheumatic diseases</s0></fA64><fA66 i1="01"><s0>GBR</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B15</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Fièvre périodique héréditaire</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Hereditary periodic fever</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Fiebre periódica familiar</s0><s2>NM</s2><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Génétique</s0><s5>07</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Genetics</s0><s5>07</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Genética</s0><s5>07</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Diagnostic</s0><s5>08</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Diagnosis</s0><s5>08</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Diagnóstico</s0><s5>08</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Rhumatologie</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Rheumatology</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Reumatología</s0><s5>09</s5></fC03><fN21><s1>296</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><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>Languedoc-Roussillon</li><li>Maryland</li><li>Nouvelle-Galles du Sud</li><li>Occitanie (région administrative)</li><li>Région de Bruxelles-Capitale</li><li>Utrecht (province)</li><li>Île-de-France</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><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="Hoff Man, H M" sort="Hoff Man, H M" uniqKey="Hoff Man H" first="H. M." last="Hoff Man">H. M. Hoff Man</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Bennetts, B" sort="Bennetts, B" uniqKey="Bennetts B" first="B." last="Bennetts">B. Bennetts</name></region></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. Touitou</name></country><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="De Leener, A" sort="De Leener, A" uniqKey="De Leener A" first="A." last="De Leener">A. De Leener</name></region></country><country name="Pologne"><noRegion><name sortKey="Kania, U" sort="Kania, U" uniqKey="Kania U" first="U." last="Kania">U. Kania</name></noRegion></country><country name="Suisse"><noRegion><name sortKey="Moix, I" sort="Moix, I" uniqKey="Moix I" first="I." last="Moix">I. Moix</name></noRegion><name sortKey="Morris, M" sort="Morris, M" uniqKey="Morris M" first="M." last="Morris">M. Morris</name></country><country name="Japon"><noRegion><name sortKey="Nishikomori, R" sort="Nishikomori, R" uniqKey="Nishikomori R" first="R." last="Nishikomori">R. Nishikomori</name></noRegion></country><country name="Turquie"><noRegion><name sortKey="Ozen, S" sort="Ozen, S" uniqKey="Ozen S" first="S." last="Ozen">S. Ozen</name></noRegion></country><country name="Chypre (pays)"><noRegion><name sortKey="Phylactou, L" sort="Phylactou, L" uniqKey="Phylactou L" first="L." last="Phylactou">L. Phylactou</name></noRegion></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Risom, L" sort="Risom, L" uniqKey="Risom L" first="L." last="Risom">L. Risom</name></region></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Rowczenio, D" sort="Rowczenio, D" uniqKey="Rowczenio D" first="D." last="Rowczenio">D. Rowczenio</name></region></country><country name="Arménie"><noRegion><name sortKey="Sarkisian, T" sort="Sarkisian, T" uniqKey="Sarkisian T" first="T." last="Sarkisian">T. Sarkisian</name></noRegion></country><country name="Pays-Bas"><region name="Utrecht (province)"><name sortKey="Gijn, M E Van" sort="Gijn, M E Van" uniqKey="Gijn M" first="M. E. Van" last="Gijn">M. E. Van Gijn</name></region></country><country name="Autriche"><noRegion><name sortKey="Witsch Baumgartner, M" sort="Witsch Baumgartner, M" uniqKey="Witsch Baumgartner M" first="M." last="Witsch-Baumgartner">M. Witsch-Baumgartner</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|wiki= Wicri/Asie
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|texte= Guidelines for the genetic diagnosis of hereditary recurrent fevers
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