Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU
Identifieur interne : 00AB89 ( Main/Exploration ); précédent : 00AB88; suivant : 00AB90Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU
Auteurs : Bénédicte Neven [France, Italie, Hongrie, Thaïlande, Slovaquie, Suisse, Australie, Royaume-Uni, Allemagne] ; Isabelle Callebaut ; Anne-Marie Prieur ; Jérome Feldmann ; Christine Bodemer ; Loredana Lepore ; Beata Derfalvi ; Suata Benjaponpitak ; Richard Vesely ; Marie Jose Sauvain ; Stefan Oertle ; Roger Allen ; Gareth Morgan ; Arndt Borkhardt ; Clare Hill ; Janet Gardner-Medwin ; Alain Fischer ; Geneviève De Saint BasileSource :
- Blood [ 0006-4971 ] ; 2004.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
Abstract
NALP proteins are recently identified members of the CATERPILLER (CARD, transcription enhancer, R(purine)-binding, pyrin, lots of LRR) family of proteins, thought to function in apoptotic and inflammatory signaling pathways. Mutations in the CIAS1 gene, which encodes a member of the NALP (NACHT-, LRR-, and PYD-containing proteins) family, the cryopyrin/NALP3/PYPAF1 protein, expressed primarily in phagocytic cells, were recently found to be associated with a spectrum of autoinflammatory disorders. These Include chronic infantile neurologic cutaneous and articular (CINCA) syndrome (also known as neonatal-onset multisystem inflammatory disease [NOMID]), Muckle-Wells syndrome (MWS), and familial cold urticaria (FCU). We describe herein 7 new mutations In 13 unrelated patients with CINCA syndrome and identify mutational hotspots in CIAS1 on the basis of all mutations described to date. We also provide evidence of genotype/phenotype correlations. A 3-dimensional model of the nucleotide-binding domain (NBD) of cryopyrin suggested that this molecule is structurally and functionally similar to members of the AAA+ protein family of ATPases. According to this model, most of the mutations known to affect residues of the NBD are clustered on one side of this domain in a region predicted to participate in intermolecular contacts, suggesting that this model is likely to be biologically relevant and that defects in nucleotide binding, nucleotide hydrolysis, or protein oligomerization may lead to the functional dysregulation of cryopyrin in the MWS, FCU, and CINCA/NOMID disorders.
Affiliations:
- Allemagne, Australie, France, Hongrie, Italie, Royaume-Uni, Slovaquie, Suisse, Thaïlande
- Canton de Berne, Hongrie centrale, Victoria (État), Île-de-France
- Berne, Budapest, Melbourne, Paris
- Université de Berne
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 004E18
- to stream PascalFrancis, to step Curation: 001296
- to stream PascalFrancis, to step Checkpoint: 004A55
- to stream Main, to step Merge: 00B882
- to stream Main, to step Curation: 00AB89
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU</title><author><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Unité de Recherche sur le développement normal et pathologique du systeme immunitaire INSERM U429, Unite d'Immuno-hématologie et Rhumatologie Pédiatriques, and Service de Dermatologie, Hôpital Necker-Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3></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><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Département de Biologie Structurale, CNRS UMR7590, Universités Paris 6 and Paris 7</s1><s3>FRA</s3></inist:fA14><country>France</country><wicri:noRegion>Universités Paris 6 and Paris 7</wicri:noRegion><wicri:noRegion>Département de Biologie Structurale, CNRS UMR7590, Universités Paris 6 and Paris 7</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pediatrics, IRCCS Burto Garofolo Children's Hospital</s1><s2>Trieste</s2><s3>ITA</s3></inist:fA14><country>Italie</country><wicri:noRegion>Trieste</wicri:noRegion></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Pediatrics, Semmelweis University of Medicine</s1><s2>Budapest</s2><s3>HUN</s3></inist:fA14><country>Hongrie</country><placeName><settlement type="city">Budapest</settlement><region nuts="2">Hongrie centrale</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Pediatric Allergy Ramathibodi Hospice</s1><s2>Bangkok</s2><s3>THA</s3></inist:fA14><country>Thaïlande</country><wicri:noRegion>Pediatric Allergy Ramathibodi Hospice</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Faculty Hospital, Pediatric Rheumatology Unit</s1><s2>Kosice</s2><s3>SVK</s3></inist:fA14><country>Slovaquie</country><wicri:noRegion>Kosice</wicri:noRegion></affiliation><affiliation wicri:level="4"><inist:fA14 i1="07"><s1>Department of Pediatrics, University of Bern (Inselsptal), and Department of Rheumatology and Clinical Immunology/Allergology, University Hospital (Inselspital)</s1><s2>Bern</s2><s3>CHE</s3></inist:fA14><country>Suisse</country><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region><settlement type="city">Berne</settlement></placeName><orgName type="university">Université de Berne</orgName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Rheumatology and General Practice, Royal Chidren's Hospital</s1><s2>Melbourne</s2><s3>AUS</s3></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Developmental Medicine (Paediatrics/Immunology), University of Wales</s1><s2>Swansea</s2><s3>GBR</s3></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Swansea</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Institute of Medical Genetics, Institute of Medical Genetics, University Hospital of Wales</s1><s2>Cardiff</s2><s3>GBR</s3></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cardiff</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Pediatric Hematology and Oncology, University of Gieseen</s1><s3>DEU</s3></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Gieseen</wicri:noRegion><wicri:noRegion>Department of Pediatric Hematology and Oncology, University of Gieseen</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Child Health, Glasgow University</s1><s3>GBR</s3></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Department of Child Health, Glasgow University</wicri:noRegion></affiliation></author><author><name sortKey="Callebaut, Isabelle" sort="Callebaut, Isabelle" uniqKey="Callebaut I" first="Isabelle" last="Callebaut">Isabelle Callebaut</name></author><author><name sortKey="Prieur, Anne Marie" sort="Prieur, Anne Marie" uniqKey="Prieur A" first="Anne-Marie" last="Prieur">Anne-Marie Prieur</name></author><author><name sortKey="Feldmann, Jerome" sort="Feldmann, Jerome" uniqKey="Feldmann J" first="Jérome" last="Feldmann">Jérome Feldmann</name></author><author><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name></author><author><name sortKey="Lepore, Loredana" sort="Lepore, Loredana" uniqKey="Lepore L" first="Loredana" last="Lepore">Loredana Lepore</name></author><author><name sortKey="Derfalvi, Beata" sort="Derfalvi, Beata" uniqKey="Derfalvi B" first="Beata" last="Derfalvi">Beata Derfalvi</name></author><author><name sortKey="Benjaponpitak, Suata" sort="Benjaponpitak, Suata" uniqKey="Benjaponpitak S" first="Suata" last="Benjaponpitak">Suata Benjaponpitak</name></author><author><name sortKey="Vesely, Richard" sort="Vesely, Richard" uniqKey="Vesely R" first="Richard" last="Vesely">Richard Vesely</name></author><author><name sortKey="Sauvain, Marie Jose" sort="Sauvain, Marie Jose" uniqKey="Sauvain M" first="Marie Jose" last="Sauvain">Marie Jose Sauvain</name></author><author><name sortKey="Oertle, Stefan" sort="Oertle, Stefan" uniqKey="Oertle S" first="Stefan" last="Oertle">Stefan Oertle</name></author><author><name sortKey="Allen, Roger" sort="Allen, Roger" uniqKey="Allen R" first="Roger" last="Allen">Roger Allen</name></author><author><name sortKey="Morgan, Gareth" sort="Morgan, Gareth" uniqKey="Morgan G" first="Gareth" last="Morgan">Gareth Morgan</name></author><author><name sortKey="Borkhardt, Arndt" sort="Borkhardt, Arndt" uniqKey="Borkhardt A" first="Arndt" last="Borkhardt">Arndt Borkhardt</name></author><author><name sortKey="Hill, Clare" sort="Hill, Clare" uniqKey="Hill C" first="Clare" last="Hill">Clare Hill</name></author><author><name sortKey="Gardner Medwin, Janet" sort="Gardner Medwin, Janet" uniqKey="Gardner Medwin J" first="Janet" last="Gardner-Medwin">Janet Gardner-Medwin</name></author><author><name sortKey="Fischer, Alain" sort="Fischer, Alain" uniqKey="Fischer A" first="Alain" last="Fischer">Alain Fischer</name></author><author><name sortKey="De Saint Basile, Genevieve" sort="De Saint Basile, Genevieve" uniqKey="De Saint Basile G" first="Geneviève" last="De Saint Basile">Geneviève De Saint Basile</name></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">04-0374689</idno><date when="2004">2004</date><idno type="stanalyst">PASCAL 04-0374689 LBEI</idno><idno type="RBID">Pascal:04-0374689</idno><idno type="wicri:Area/PascalFrancis/Corpus">004E18</idno><idno type="wicri:Area/PascalFrancis/Curation">001296</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">004A55</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">004A55</idno><idno type="wicri:doubleKey">0006-4971:2004:Neven B:molecular:basis:of</idno><idno type="wicri:Area/Main/Merge">00B882</idno><idno type="wicri:Area/Main/Curation">00AB89</idno><idno type="wicri:Area/Main/Exploration">00AB89</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU</title><author><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Unité de Recherche sur le développement normal et pathologique du systeme immunitaire INSERM U429, Unite d'Immuno-hématologie et Rhumatologie Pédiatriques, and Service de Dermatologie, Hôpital Necker-Enfants Malades</s1><s2>Paris</s2><s3>FRA</s3></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><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Département de Biologie Structurale, CNRS UMR7590, Universités Paris 6 and Paris 7</s1><s3>FRA</s3></inist:fA14><country>France</country><wicri:noRegion>Universités Paris 6 and Paris 7</wicri:noRegion><wicri:noRegion>Département de Biologie Structurale, CNRS UMR7590, Universités Paris 6 and Paris 7</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Pediatrics, IRCCS Burto Garofolo Children's Hospital</s1><s2>Trieste</s2><s3>ITA</s3></inist:fA14><country>Italie</country><wicri:noRegion>Trieste</wicri:noRegion></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Pediatrics, Semmelweis University of Medicine</s1><s2>Budapest</s2><s3>HUN</s3></inist:fA14><country>Hongrie</country><placeName><settlement type="city">Budapest</settlement><region nuts="2">Hongrie centrale</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Pediatric Allergy Ramathibodi Hospice</s1><s2>Bangkok</s2><s3>THA</s3></inist:fA14><country>Thaïlande</country><wicri:noRegion>Pediatric Allergy Ramathibodi Hospice</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Faculty Hospital, Pediatric Rheumatology Unit</s1><s2>Kosice</s2><s3>SVK</s3></inist:fA14><country>Slovaquie</country><wicri:noRegion>Kosice</wicri:noRegion></affiliation><affiliation wicri:level="4"><inist:fA14 i1="07"><s1>Department of Pediatrics, University of Bern (Inselsptal), and Department of Rheumatology and Clinical Immunology/Allergology, University Hospital (Inselspital)</s1><s2>Bern</s2><s3>CHE</s3></inist:fA14><country>Suisse</country><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region><settlement type="city">Berne</settlement></placeName><orgName type="university">Université de Berne</orgName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Rheumatology and General Practice, Royal Chidren's Hospital</s1><s2>Melbourne</s2><s3>AUS</s3></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Developmental Medicine (Paediatrics/Immunology), University of Wales</s1><s2>Swansea</s2><s3>GBR</s3></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Swansea</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Institute of Medical Genetics, Institute of Medical Genetics, University Hospital of Wales</s1><s2>Cardiff</s2><s3>GBR</s3></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Cardiff</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Pediatric Hematology and Oncology, University of Gieseen</s1><s3>DEU</s3></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Gieseen</wicri:noRegion><wicri:noRegion>Department of Pediatric Hematology and Oncology, University of Gieseen</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Child Health, Glasgow University</s1><s3>GBR</s3></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Department of Child Health, Glasgow University</wicri:noRegion></affiliation></author><author><name sortKey="Callebaut, Isabelle" sort="Callebaut, Isabelle" uniqKey="Callebaut I" first="Isabelle" last="Callebaut">Isabelle Callebaut</name></author><author><name sortKey="Prieur, Anne Marie" sort="Prieur, Anne Marie" uniqKey="Prieur A" first="Anne-Marie" last="Prieur">Anne-Marie Prieur</name></author><author><name sortKey="Feldmann, Jerome" sort="Feldmann, Jerome" uniqKey="Feldmann J" first="Jérome" last="Feldmann">Jérome Feldmann</name></author><author><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name></author><author><name sortKey="Lepore, Loredana" sort="Lepore, Loredana" uniqKey="Lepore L" first="Loredana" last="Lepore">Loredana Lepore</name></author><author><name sortKey="Derfalvi, Beata" sort="Derfalvi, Beata" uniqKey="Derfalvi B" first="Beata" last="Derfalvi">Beata Derfalvi</name></author><author><name sortKey="Benjaponpitak, Suata" sort="Benjaponpitak, Suata" uniqKey="Benjaponpitak S" first="Suata" last="Benjaponpitak">Suata Benjaponpitak</name></author><author><name sortKey="Vesely, Richard" sort="Vesely, Richard" uniqKey="Vesely R" first="Richard" last="Vesely">Richard Vesely</name></author><author><name sortKey="Sauvain, Marie Jose" sort="Sauvain, Marie Jose" uniqKey="Sauvain M" first="Marie Jose" last="Sauvain">Marie Jose Sauvain</name></author><author><name sortKey="Oertle, Stefan" sort="Oertle, Stefan" uniqKey="Oertle S" first="Stefan" last="Oertle">Stefan Oertle</name></author><author><name sortKey="Allen, Roger" sort="Allen, Roger" uniqKey="Allen R" first="Roger" last="Allen">Roger Allen</name></author><author><name sortKey="Morgan, Gareth" sort="Morgan, Gareth" uniqKey="Morgan G" first="Gareth" last="Morgan">Gareth Morgan</name></author><author><name sortKey="Borkhardt, Arndt" sort="Borkhardt, Arndt" uniqKey="Borkhardt A" first="Arndt" last="Borkhardt">Arndt Borkhardt</name></author><author><name sortKey="Hill, Clare" sort="Hill, Clare" uniqKey="Hill C" first="Clare" last="Hill">Clare Hill</name></author><author><name sortKey="Gardner Medwin, Janet" sort="Gardner Medwin, Janet" uniqKey="Gardner Medwin J" first="Janet" last="Gardner-Medwin">Janet Gardner-Medwin</name></author><author><name sortKey="Fischer, Alain" sort="Fischer, Alain" uniqKey="Fischer A" first="Alain" last="Fischer">Alain Fischer</name></author><author><name sortKey="De Saint Basile, Genevieve" sort="De Saint Basile, Genevieve" uniqKey="De Saint Basile G" first="Geneviève" last="De Saint Basile">Geneviève De Saint Basile</name></author></analytic><series><title level="j" type="main">Blood</title><title level="j" type="abbreviated">Blood</title><idno type="ISSN">0006-4971</idno><imprint><date when="2004">2004</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Blood</title><title level="j" type="abbreviated">Blood</title><idno type="ISSN">0006-4971</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Affinity</term><term>Apoptosis</term><term>Autoimmune disease</term><term>CINCA syndrome</term><term>Familial cold urticaria</term><term>Human</term><term>Inflammation</term><term>Molecular structure</term><term>Muckle syndrome</term><term>Mutation</term><term>Nucleotide</term><term>Phagocyte</term><term>Signal transduction</term><term>Urticaria</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Phagocyte</term><term>Inflammation</term><term>Transduction signal</term><term>Apoptose</term><term>Mutation</term><term>Maladie autoimmune</term><term>Muckle syndrome</term><term>Urticaire</term><term>Structure moléculaire</term><term>Affinité</term><term>Nucléotide</term><term>Homme</term><term>Protéine NALP</term><term>Gène CIAS 1</term><term>Protéines CATEPILLER</term><term>Syndrome CINCA</term><term>Urticaire au froid familial</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">NALP proteins are recently identified members of the CATERPILLER (CARD, transcription enhancer, R(purine)-binding, pyrin, lots of LRR) family of proteins, thought to function in apoptotic and inflammatory signaling pathways. Mutations in the CIAS1 gene, which encodes a member of the NALP (NACHT-, LRR-, and PYD-containing proteins) family, the cryopyrin/NALP3/PYPAF1 protein, expressed primarily in phagocytic cells, were recently found to be associated with a spectrum of autoinflammatory disorders. These Include chronic infantile neurologic cutaneous and articular (CINCA) syndrome (also known as neonatal-onset multisystem inflammatory disease [NOMID]), Muckle-Wells syndrome (MWS), and familial cold urticaria (FCU). We describe herein 7 new mutations In 13 unrelated patients with CINCA syndrome and identify mutational hotspots in CIAS1 on the basis of all mutations described to date. We also provide evidence of genotype/phenotype correlations. A 3-dimensional model of the nucleotide-binding domain (NBD) of cryopyrin suggested that this molecule is structurally and functionally similar to members of the AAA+ protein family of ATPases. According to this model, most of the mutations known to affect residues of the NBD are clustered on one side of this domain in a region predicted to participate in intermolecular contacts, suggesting that this model is likely to be biologically relevant and that defects in nucleotide binding, nucleotide hydrolysis, or protein oligomerization may lead to the functional dysregulation of cryopyrin in the MWS, FCU, and CINCA/NOMID disorders.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li><li>Hongrie</li><li>Italie</li><li>Royaume-Uni</li><li>Slovaquie</li><li>Suisse</li><li>Thaïlande</li></country><region><li>Canton de Berne</li><li>Hongrie centrale</li><li>Victoria (État)</li><li>Île-de-France</li></region><settlement><li>Berne</li><li>Budapest</li><li>Melbourne</li><li>Paris</li></settlement><orgName><li>Université de Berne</li></orgName></list><tree><noCountry><name sortKey="Allen, Roger" sort="Allen, Roger" uniqKey="Allen R" first="Roger" last="Allen">Roger Allen</name><name sortKey="Benjaponpitak, Suata" sort="Benjaponpitak, Suata" uniqKey="Benjaponpitak S" first="Suata" last="Benjaponpitak">Suata Benjaponpitak</name><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name><name sortKey="Borkhardt, Arndt" sort="Borkhardt, Arndt" uniqKey="Borkhardt A" first="Arndt" last="Borkhardt">Arndt Borkhardt</name><name sortKey="Callebaut, Isabelle" sort="Callebaut, Isabelle" uniqKey="Callebaut I" first="Isabelle" last="Callebaut">Isabelle Callebaut</name><name sortKey="De Saint Basile, Genevieve" sort="De Saint Basile, Genevieve" uniqKey="De Saint Basile G" first="Geneviève" last="De Saint Basile">Geneviève De Saint Basile</name><name sortKey="Derfalvi, Beata" sort="Derfalvi, Beata" uniqKey="Derfalvi B" first="Beata" last="Derfalvi">Beata Derfalvi</name><name sortKey="Feldmann, Jerome" sort="Feldmann, Jerome" uniqKey="Feldmann J" first="Jérome" last="Feldmann">Jérome Feldmann</name><name sortKey="Fischer, Alain" sort="Fischer, Alain" uniqKey="Fischer A" first="Alain" last="Fischer">Alain Fischer</name><name sortKey="Gardner Medwin, Janet" sort="Gardner Medwin, Janet" uniqKey="Gardner Medwin J" first="Janet" last="Gardner-Medwin">Janet Gardner-Medwin</name><name sortKey="Hill, Clare" sort="Hill, Clare" uniqKey="Hill C" first="Clare" last="Hill">Clare Hill</name><name sortKey="Lepore, Loredana" sort="Lepore, Loredana" uniqKey="Lepore L" first="Loredana" last="Lepore">Loredana Lepore</name><name sortKey="Morgan, Gareth" sort="Morgan, Gareth" uniqKey="Morgan G" first="Gareth" last="Morgan">Gareth Morgan</name><name sortKey="Oertle, Stefan" sort="Oertle, Stefan" uniqKey="Oertle S" first="Stefan" last="Oertle">Stefan Oertle</name><name sortKey="Prieur, Anne Marie" sort="Prieur, Anne Marie" uniqKey="Prieur A" first="Anne-Marie" last="Prieur">Anne-Marie Prieur</name><name sortKey="Sauvain, Marie Jose" sort="Sauvain, Marie Jose" uniqKey="Sauvain M" first="Marie Jose" last="Sauvain">Marie Jose Sauvain</name><name sortKey="Vesely, Richard" sort="Vesely, Richard" uniqKey="Vesely R" first="Richard" last="Vesely">Richard Vesely</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name></region><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name></country><country name="Italie"><noRegion><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name></noRegion></country><country name="Hongrie"><region name="Hongrie centrale"><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name></region></country><country name="Thaïlande"><noRegion><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name></noRegion></country><country name="Slovaquie"><noRegion><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name></noRegion></country><country name="Suisse"><region name="Canton de Berne"><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name></region></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name></region></country><country name="Royaume-Uni"><noRegion><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name></noRegion><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name></country><country name="Allemagne"><noRegion><name sortKey="Neven, Benedicte" sort="Neven, Benedicte" uniqKey="Neven B" first="Bénédicte" last="Neven">Bénédicte Neven</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00AB89 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00AB89 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= Pascal:04-0374689
|texte= Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU
}}
| This area was generated with Dilib version V0.6.33. |  |