AustralieFrV1, PascalFrancis, Curation, bibRecord, 004F51

Guidelines for the genetic diagnosis of hereditary recurrent fevers

Identifieur interne : 004F51 ( PascalFrancis/Curation ); précédent : 004F50; suivant : 004F52

Guidelines 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.

RBID : Pascal:12-0385758

Descripteurs français

Pascal (Inist)
- Fièvre périodique héréditaire, Génétique, Diagnostic, Rhumatologie.
Wicri :
- topic : Génétique.

English descriptors

KwdEn :
- Diagnosis, Genetics, Hereditary periodic fever, Rheumatology.

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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Le document en format XML

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</inist:fA14>
<country>Danemark</country>
</affiliation>
</author>
<author><name sortKey="Rowczenio, D" sort="Rowczenio, D" uniqKey="Rowczenio D" first="D." last="Rowczenio">D. Rowczenio</name>
<affiliation wicri:level="1"><inist:fA14 i1="19"><s1>National Amyloidosis Centre, UCL Medical School</s1>
<s2>London</s2>
<s3>GBR</s3>
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<country>Royaume-Uni</country>
</affiliation>
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<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>
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<s3>ARM</s3>
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</inist:fA14>
<country>Arménie</country>
</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>
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</inist:fA14>
<country>Pays-Bas</country>
</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>
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</author>
<author><name sortKey="Morris, M" sort="Morris, M" uniqKey="Morris M" first="M." last="Morris">M. Morris</name>
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</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>
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<s2>La Jolla, California</s2>
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</affiliation>
</author>
<author><name sortKey="Touitou, I" sort="Touitou, I" uniqKey="Touitou I" first="I." last="Touitou">I. Touitou</name>
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<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>France</country>
</affiliation>
</author>
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<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>
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<country>Israël</country>
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<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>
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</author>
<author><name sortKey="Aksentijevich, I" sort="Aksentijevich, I" uniqKey="Aksentijevich I" first="I." last="Aksentijevich">I. Aksentijevich</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>National Human Genome Research Institute</s1>
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<affiliation wicri:level="1"><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>
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<s3>DEU</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
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<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>
</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>
</affiliation>
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<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"><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>
</affiliation>
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<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>
</affiliation>
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<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>
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</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"><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>
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<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>
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<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>
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<country>Suisse</country>
</affiliation>
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<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>
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<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>
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<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>
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<author><name sortKey="Risom, L" sort="Risom, L" uniqKey="Risom L" first="L." last="Risom">L. Risom</name>
<affiliation wicri:level="1"><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>
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</author>
<author><name sortKey="Rowczenio, D" sort="Rowczenio, D" uniqKey="Rowczenio D" first="D." last="Rowczenio">D. Rowczenio</name>
<affiliation wicri:level="1"><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>
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<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>
</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="1"><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>
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<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>
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<s3>AUT</s3>
<sZ>22 aut.</sZ>
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<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>
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<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="1"><inist:fA14 i1="24"><s1>Department of Pediatrics, University of California at San Diego</s1>
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<s3>USA</s3>
<sZ>24 aut.</sZ>
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<country>États-Unis</country>
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<affiliation wicri:level="1"><inist:fA14 i1="25"><s1>CHRU Montpellier, INSERM U844, Universite UM1</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>25 aut.</sZ>
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<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>
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<term>Rheumatology</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Fièvre périodique héréditaire</term>
<term>Génétique</term>
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<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>
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<sZ>2 aut.</sZ>
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</fA14>
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<sZ>5 aut.</sZ>
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</fA14>
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<s3>FRA</s3>
<sZ>7 aut.</sZ>
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<sZ>8 aut.</sZ>
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<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>
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<fA14 i1="12"><s1>Pronto diagnostics</s1>
<s2>Tel Aviv</s2>
<s3>ISR</s3>
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<fA14 i1="13"><s1>Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Tel-Aviv University</s1>
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<sZ>13 aut.</sZ>
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<s3>CHE</s3>
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<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>
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<s3>GBR</s3>
<sZ>19 aut.</sZ>
</fA14>
<fA14 i1="20"><s1>Center of Medical Genetics and Primary Health Care</s1>
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<sZ>20 aut.</sZ>
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<fA14 i1="21"><s1>Genome Diagnostics, Biomedical Genetics, University Medical Center Utrecht</s1>
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<s3>NLD</s3>
<sZ>21 aut.</sZ>
</fA14>
<fA14 i1="22"><s1>Medical University Innsbruck, Sektion Humangenetik</s1>
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<sZ>22 aut.</sZ>
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<sZ>23 aut.</sZ>
</fA14>
<fA14 i1="24"><s1>Department of Pediatrics, University of California at San Diego</s1>
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<sZ>24 aut.</sZ>
</fA14>
<fA14 i1="25"><s1>CHRU Montpellier, INSERM U844, Universite UM1</s1>
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   |texte=   Guidelines for the genetic diagnosis of hereditary recurrent fevers
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Guidelines for the genetic diagnosis of hereditary recurrent fevers

Guidelines for the genetic diagnosis of hereditary recurrent fevers

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