Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Identifieur interne : 003927 ( Main/Exploration ); précédent : 003926; suivant : 003928Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Auteurs : Gillian I. Rice [Royaume-Uni] ; Yoandris Del Toro Duany [États-Unis] ; Emma M. Jenkinson [Royaume-Uni] ; Gabriella Ma Forte [Royaume-Uni] ; Beverley H. Anderson [Royaume-Uni] ; Giada Ariaudo [Italie] ; Brigitte Bader-Meunier [France] ; Eileen M. Baildam [Royaume-Uni] ; Roberta Battini [Italie] ; Michael W. Beresford [Royaume-Uni] ; Manuela Casarano [Italie] ; Mondher Chouchane [France] ; Rolando Cimaz [Italie] ; Abigail E. Collins [États-Unis] ; Nuno Jv Cordeiro [Royaume-Uni] ; Russell C. Dale [Australie] ; Joyce E. Davidson [Royaume-Uni] ; Liesbeth De Waele [Belgique] ; Isabelle Desguerre [France] ; Laurence Faivre [France] ; Elisa Fazzi [Italie] ; Bertrand Isidor [France] ; Lieven Lagae [Belgique] ; Andrew R. Latchman [Canada] ; Pierre Lebon [France] ; Chumei Li [Canada] ; John H. Livingston [Royaume-Uni] ; Charles M. Lourenço [Brésil] ; Maria Margherita Mancardi [Italie] ; Alice Masurel-Paulet [France] ; Iain B. Mcinnes [Royaume-Uni] ; Manoj P. Menezes [Australie] ; Cyril Mignot [France] ; James O Ullivan [Royaume-Uni] ; Simona Orcesi [Italie] ; Paolo P. Picco [Italie] ; Enrica Riva [Italie] ; Robert A. Robinson [Royaume-Uni] ; Diana Rodriguez [France] ; Elisabetta Salvatici [Italie] ; Christiaan Scott [Afrique du Sud] ; Marta Szybowska [Canada] ; John L. Tolmie [Royaume-Uni] ; Adeline Vanderver [États-Unis] ; Catherine Vanhulle [France] ; Jose Pedro Vieira [Portugal] ; Kate Webb [Afrique du Sud] ; Robyn N. Whitney [Canada] ; Simon G. Williams [Royaume-Uni] ; Lynne A. Wolfe [États-Unis] ; Sameer M. Zuberi [Royaume-Uni] ; Sun Hur [États-Unis] ; Yanick J. Crow [Royaume-Uni]Source :
- Nature genetics [ 1061-4036 ] ; 2014.
Descripteurs français
- KwdFr :
- Analyse de séquence d'ADN, Analyse de variance, Analyse spectrale, Cellules HEK293, DEAD-box RNA helicases (), DEAD-box RNA helicases (génétique), Données de séquences moléculaires, Exome (génétique), Humains, Hélicase IFIH1 inductrice de l'interféron, Interféron de type I (immunologie), Maladies auto-immunes du système nerveux (génétique), Maladies auto-immunes du système nerveux (immunologie), Malformations du système nerveux (génétique), Malformations du système nerveux (immunologie), Modèles moléculaires, Mutation (génétique), Phénotype, Réaction de polymérisation en chaine en temps réel, Répétitions microsatellites (génétique), Séquence nucléotidique, Test de retard de migration électrophorétique, Transduction du signal (génétique).
- MESH :
- génétique : DEAD-box RNA helicases, Exome, Maladies auto-immunes du système nerveux, Malformations du système nerveux, Mutation, Répétitions microsatellites, Transduction du signal.
- immunologie : Interféron de type I, Maladies auto-immunes du système nerveux, Malformations du système nerveux.
- Analyse de séquence d'ADN, Analyse de variance, Analyse spectrale, Cellules HEK293, DEAD-box RNA helicases, Données de séquences moléculaires, Humains, Hélicase IFIH1 inductrice de l'interféron, Modèles moléculaires, Phénotype, Réaction de polymérisation en chaine en temps réel, Séquence nucléotidique, Test de retard de migration électrophorétique.
English descriptors
- KwdEn :
- Analysis of Variance, Autoimmune Diseases of the Nervous System (genetics), Autoimmune Diseases of the Nervous System (immunology), Base Sequence, DEAD-box RNA Helicases (chemistry), DEAD-box RNA Helicases (genetics), Electrophoretic Mobility Shift Assay, Exome (genetics), HEK293 Cells, Humans, Interferon Type I (immunology), Interferon-Induced Helicase, IFIH1, Microsatellite Repeats (genetics), Models, Molecular, Molecular Sequence Data, Mutation (genetics), Nervous System Malformations (genetics), Nervous System Malformations (immunology), Phenotype, Real-Time Polymerase Chain Reaction, Sequence Analysis, DNA, Signal Transduction (genetics), Spectrum Analysis.
- MESH :
- chemical , chemistry : DEAD-box RNA Helicases.
- genetics : Autoimmune Diseases of the Nervous System, DEAD-box RNA Helicases, Exome, Microsatellite Repeats, Mutation, Nervous System Malformations, Signal Transduction.
- immunology : Autoimmune Diseases of the Nervous System, Interferon Type I, Nervous System Malformations.
- Analysis of Variance, Base Sequence, Electrophoretic Mobility Shift Assay, HEK293 Cells, Humans, Interferon-Induced Helicase, IFIH1, Models, Molecular, Molecular Sequence Data, Phenotype, Real-Time Polymerase Chain Reaction, Sequence Analysis, DNA, Spectrum Analysis.
Abstract
The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene
Url:
DOI: 10.1038/ng.2933
PubMed: 24686847
PubMed Central: 4004585
Affiliations:
- Afrique du Sud, Australie, Belgique, Brésil, Canada, France, Italie, Portugal, Royaume-Uni, États-Unis
- Angleterre, Bourgogne, Bourgogne-Franche-Comté, District de Columbia, Grand Londres, Grand Manchester, Haute-Normandie, Maryland, Massachusetts, Nouvelle-Galles du Sud, Ontario, Pays de la Loire, Région Normandie, Toscane, Écosse, État de São Paulo, Île-de-France
- Dijon, Glasgow, Hamilton (Ontario), Londres, Manchester, Nantes, Paris, Pise, Rouen, Sydney, São Paulo, Washington (district de Columbia)
- Université McMaster, Université de Bourgogne, Université de Glasgow, Université de Manchester, Université de Sydney, Université de São Paulo
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Le document en format XML
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Rice</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Del Toro Duany, Yoandris" sort="Del Toro Duany, Yoandris" uniqKey="Del Toro Duany Y" first="Yoandris" last="Del Toro Duany">Yoandris Del Toro Duany</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A3">Boston Children’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Boston Children’s Hospital, Boston, MA 02115</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Jenkinson, Emma M" sort="Jenkinson, Emma M" uniqKey="Jenkinson E" first="Emma M" last="Jenkinson">Emma M. 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Anderson</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Ariaudo, Giada" sort="Ariaudo, Giada" uniqKey="Ariaudo G" first="Giada" last="Ariaudo">Giada Ariaudo</name><affiliation wicri:level="1"><nlm:aff id="A4">Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A5">Department of Brain and Behavioral Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Brain and Behavioral Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Bader Meunier, Brigitte" sort="Bader Meunier, Brigitte" uniqKey="Bader Meunier B" first="Brigitte" last="Bader-Meunier">Brigitte Bader-Meunier</name><affiliation wicri:level="3"><nlm:aff id="A6">Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris</wicri:regionArea><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="Baildam, Eileen M" sort="Baildam, Eileen M" uniqKey="Baildam E" first="Eileen M" last="Baildam">Eileen M. Baildam</name><affiliation wicri:level="1"><nlm:aff id="A7">Department of Paediatric Rheumatology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Rheumatology, Alder Hey Children’s NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><affiliation wicri:level="3"><nlm:aff id="A8">Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Beresford, Michael W" sort="Beresford, Michael W" uniqKey="Beresford M" first="Michael W" last="Beresford">Michael W. Beresford</name><affiliation wicri:level="1"><nlm:aff id="A9">Institute of Translational Medicine, University of Liverpool; Department of Paediatric Rheumatology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Translational Medicine, University of Liverpool; Department of Paediatric Rheumatology, Alder Hey Children’s NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Casarano, Manuela" sort="Casarano, Manuela" uniqKey="Casarano M" first="Manuela" last="Casarano">Manuela Casarano</name><affiliation wicri:level="3"><nlm:aff id="A8">Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Chouchane, Mondher" sort="Chouchane, Mondher" uniqKey="Chouchane M" first="Mondher" last="Chouchane">Mondher Chouchane</name><affiliation wicri:level="3"><nlm:aff id="A10">Service de Pédiatrie 1, CHU de Dijon, Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie 1, CHU de Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Cimaz, Rolando" sort="Cimaz, Rolando" uniqKey="Cimaz R" first="Rolando" last="Cimaz">Rolando Cimaz</name><affiliation wicri:level="1"><nlm:aff id="A11">AOU Meyer and University of Florence, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>AOU Meyer and University of Florence</wicri:regionArea></affiliation></author><author><name sortKey="Collins, Abigail E" sort="Collins, Abigail E" uniqKey="Collins A" first="Abigail E" last="Collins">Abigail E. Collins</name><affiliation wicri:level="1"><nlm:aff id="A12">Department of Pediatrics, Division of Pediatric Neurology, University of Colorado, Denver, School of Medicine, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Pediatric Neurology, University of Colorado, Denver, School of Medicine</wicri:regionArea><wicri:noRegion>School of Medicine</wicri:noRegion></affiliation></author><author><name sortKey="Cordeiro, Nuno Jv" sort="Cordeiro, Nuno Jv" uniqKey="Cordeiro N" first="Nuno Jv" last="Cordeiro">Nuno Jv Cordeiro</name><affiliation wicri:level="1"><nlm:aff id="A13">Department of Paediatrics, Rainbow House NHS Ayrshire & Arran, Scotland, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatrics, Rainbow House NHS Ayrshire & Arran, Scotland</wicri:regionArea><wicri:noRegion>Scotland</wicri:noRegion></affiliation></author><author><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C" last="Dale">Russell C. Dale</name><affiliation wicri:level="4"><nlm:aff id="A14">Neuroimmunology group, the Children’s Hospital at Westmead, University of Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Neuroimmunology group, the Children’s Hospital at Westmead, University of Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Davidson, Joyce E" sort="Davidson, Joyce E" uniqKey="Davidson J" first="Joyce E" last="Davidson">Joyce E. Davidson</name><affiliation wicri:level="1"><nlm:aff id="A15">Department of Paediatric Rheumatology, Royal Hospital for Sick Children, Glasgow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Rheumatology, Royal Hospital for Sick Children, Glasgow</wicri:regionArea><wicri:noRegion>Glasgow</wicri:noRegion></affiliation></author><author><name sortKey="De Waele, Liesbeth" sort="De Waele, Liesbeth" uniqKey="De Waele L" first="Liesbeth" last="De Waele">Liesbeth De Waele</name><affiliation wicri:level="1"><nlm:aff id="A16">Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation wicri:level="3"><nlm:aff id="A6">Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris</wicri:regionArea><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="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="4"><nlm:aff id="A17">Centre de Génétique, Hôpital d’Enfants, CHU de Dijon et Université de Bourgogne, Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU de Dijon et Université de Bourgogne, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement><settlement type="city">Dijon</settlement></placeName><orgName type="university">Université de Bourgogne</orgName></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation wicri:level="1"><nlm:aff id="A18">Child Neurology and Psychiatry Unit. Civil Hospital. Department of Clinical and Experimental Sciences, University of Brescia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit. Civil Hospital. Department of Clinical and Experimental Sciences, University of Brescia</wicri:regionArea><wicri:noRegion>University of Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation wicri:level="3"><nlm:aff id="A19">Service de Génétique Médicale, Inserm, CHU Nantes, UMR-S 957, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Inserm, CHU Nantes, UMR-S 957, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Lagae, Lieven" sort="Lagae, Lieven" uniqKey="Lagae L" first="Lieven" last="Lagae">Lieven Lagae</name><affiliation wicri:level="1"><nlm:aff id="A16">Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Latchman, Andrew R" sort="Latchman, Andrew R" uniqKey="Latchman A" first="Andrew R" last="Latchman">Andrew R. Latchman</name><affiliation wicri:level="4"><nlm:aff id="A20">Division of General Pediatrics, Department of Pediatrics, McMaster Children’s Hospital, McMaster University, Hamilton, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of General Pediatrics, Department of Pediatrics, McMaster Children’s Hospital, McMaster University, Hamilton</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><affiliation wicri:level="3"><nlm:aff id="A21">Université et Faculté de Medecine Paris Descartes, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université et Faculté de Medecine Paris Descartes, Paris</wicri:regionArea><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="Li, Chumei" sort="Li, Chumei" uniqKey="Li C" first="Chumei" last="Li">Chumei Li</name><affiliation wicri:level="4"><nlm:aff id="A22">Department of Pediatrics, Clinical Genetics Program, McMaster Children’s Hospital, McMaster University, Hamilton, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, Clinical Genetics Program, McMaster Children’s Hospital, McMaster University, Hamilton</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H" last="Livingston">John H. Livingston</name><affiliation wicri:level="1"><nlm:aff id="A23">Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M" last="Lourenço">Charles M. Lourenço</name><affiliation wicri:level="4"><nlm:aff id="A24">Clinics Hospital of Ribeirao Preto, University of São Paulo, Brasil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Clinics Hospital of Ribeirao Preto, University of São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Mancardi, Maria Margherita" sort="Mancardi, Maria Margherita" uniqKey="Mancardi M" first="Maria Margherita" last="Mancardi">Maria Margherita Mancardi</name><affiliation wicri:level="1"><nlm:aff id="A25">O.U. Child Neuropsychiatry, Department of Neuroscience, Giannina Gaslini Institute, Genoa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>O.U. Child Neuropsychiatry, Department of Neuroscience, Giannina Gaslini Institute, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Masurel Paulet, Alice" sort="Masurel Paulet, Alice" uniqKey="Masurel Paulet A" first="Alice" last="Masurel-Paulet">Alice Masurel-Paulet</name><affiliation wicri:level="4"><nlm:aff id="A17">Centre de Génétique, Hôpital d’Enfants, CHU de Dijon et Université de Bourgogne, Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU de Dijon et Université de Bourgogne, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement><settlement type="city">Dijon</settlement></placeName><orgName type="university">Université de Bourgogne</orgName></affiliation></author><author><name sortKey="Mcinnes, Iain B" sort="Mcinnes, Iain B" uniqKey="Mcinnes I" first="Iain B" last="Mcinnes">Iain B. Mcinnes</name><affiliation wicri:level="4"><nlm:aff id="A26">Institute of Infection Immunity and Inflammation, University of Glasgow, Glasgow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Infection Immunity and Inflammation, University of Glasgow, Glasgow</wicri:regionArea><orgName type="university">Université de Glasgow</orgName><placeName><settlement type="city">Glasgow</settlement><region type="country">Écosse</region></placeName></affiliation></author><author><name sortKey="Menezes, Manoj P" sort="Menezes, Manoj P" uniqKey="Menezes M" first="Manoj P" last="Menezes">Manoj P. Menezes</name><affiliation wicri:level="4"><nlm:aff id="A27">Institute for Neuroscience and Muscle Research, the Children’s Hospital at Westmead, University of Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, the Children’s Hospital at Westmead, University of Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="3"><nlm:aff id="A28">AP-HP, Department of Genetics, Groupe Hospitalier Pitié Salpêtrière, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Department of Genetics, Groupe Hospitalier Pitié Salpêtrière, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="O Ullivan, James" sort="O Ullivan, James" uniqKey="O Ullivan J" first="James" last="O Ullivan">James O Ullivan</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation wicri:level="1"><nlm:aff id="A4">Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Picco, Paolo P" sort="Picco, Paolo P" uniqKey="Picco P" first="Paolo P" last="Picco">Paolo P. Picco</name><affiliation wicri:level="1"><nlm:aff id="A29">Paediatric Rheumatology, Giannina Gaslini Institute, Genoa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Paediatric Rheumatology, Giannina Gaslini Institute, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Riva, Enrica" sort="Riva, Enrica" uniqKey="Riva E" first="Enrica" last="Riva">Enrica Riva</name><affiliation wicri:level="1"><nlm:aff id="A30">Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Clinical Department of Pediatrics, San Paolo Hospital, University of Milan</wicri:regionArea><wicri:noRegion>University of Milan</wicri:noRegion></affiliation></author><author><name sortKey="Robinson, Robert A" sort="Robinson, Robert A" uniqKey="Robinson R" first="Robert A" last="Robinson">Robert A. Robinson</name><affiliation wicri:level="3"><nlm:aff id="A31">Department of Neurology, Great Ormond Street Hospital for Children, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Great Ormond Street Hospital for Children, London</wicri:regionArea><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="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name><affiliation wicri:level="3"><nlm:aff id="A32">AP-HP, Service de Neuropédiatrie & Centre de Référence de Neurogénétique, Hôpital A. Trousseau, HUEP, F-75012 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Service de Neuropédiatrie & Centre de Référence de Neurogénétique, Hôpital A. Trousseau, HUEP, F-75012 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A33">UPMC Univ Paris 06, F-75012 Paris; Inserm U676, F-75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>UPMC Univ Paris 06, F-75012 Paris; Inserm U676, F-75019 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Salvatici, Elisabetta" sort="Salvatici, Elisabetta" uniqKey="Salvatici E" first="Elisabetta" last="Salvatici">Elisabetta Salvatici</name><affiliation wicri:level="1"><nlm:aff id="A30">Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Clinical Department of Pediatrics, San Paolo Hospital, University of Milan</wicri:regionArea><wicri:noRegion>University of Milan</wicri:noRegion></affiliation></author><author><name sortKey="Scott, Christiaan" sort="Scott, Christiaan" uniqKey="Scott C" first="Christiaan" last="Scott">Christiaan Scott</name><affiliation wicri:level="1"><nlm:aff id="A34">University of Cape Town, Red Cross War Memorial Children’s Hospital, Republic of South Africa</nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>University of Cape Town, Red Cross War Memorial Children’s Hospital</wicri:regionArea><wicri:noRegion>Red Cross War Memorial Children’s Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Szybowska, Marta" sort="Szybowska, Marta" uniqKey="Szybowska M" first="Marta" last="Szybowska">Marta Szybowska</name><affiliation wicri:level="4"><nlm:aff id="A22">Department of Pediatrics, Clinical Genetics Program, McMaster Children’s Hospital, McMaster University, Hamilton, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, Clinical Genetics Program, McMaster Children’s Hospital, McMaster University, Hamilton</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Tolmie, John L" sort="Tolmie, John L" uniqKey="Tolmie J" first="John L" last="Tolmie">John L. Tolmie</name><affiliation wicri:level="1"><nlm:aff id="A35">Department of Clinical Genetics, Southern General Hospital, Glasgow, Scotland, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Southern General Hospital, Glasgow, Scotland</wicri:regionArea><wicri:noRegion>Scotland</wicri:noRegion></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation wicri:level="3"><nlm:aff id="A36">Department of Paediatric Neurology, Children’s National Medical Center, Washington DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Paediatric Neurology, Children’s National Medical Center, Washington DC</wicri:regionArea><placeName><settlement type="city">Washington (district de Columbia)</settlement><region type="state">District de Columbia</region></placeName></affiliation></author><author><name sortKey="Vanhulle, Catherine" sort="Vanhulle, Catherine" uniqKey="Vanhulle C" first="Catherine" last="Vanhulle">Catherine Vanhulle</name><affiliation wicri:level="3"><nlm:aff id="A37">Service de Néonatalogie et Réanimation, Hôpital Charles Nicolle, CHU Rouen, F-76031 Rouen, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Néonatalogie et Réanimation, Hôpital Charles Nicolle, CHU Rouen, F-76031 Rouen</wicri:regionArea><placeName><region type="region" nuts="2">Région Normandie</region><region type="old region" nuts="2">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Vieira, Jose Pedro" sort="Vieira, Jose Pedro" uniqKey="Vieira J" first="Jose Pedro" last="Vieira">Jose Pedro Vieira</name><affiliation wicri:level="1"><nlm:aff id="A38">Neurology Department. Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>Neurology Department. Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central</wicri:regionArea><wicri:noRegion>Centro Hospitalar de Lisboa Central</wicri:noRegion></affiliation></author><author><name sortKey="Webb, Kate" sort="Webb, Kate" uniqKey="Webb K" first="Kate" last="Webb">Kate Webb</name><affiliation wicri:level="1"><nlm:aff id="A34">University of Cape Town, Red Cross War Memorial Children’s Hospital, Republic of South Africa</nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>University of Cape Town, Red Cross War Memorial Children’s Hospital</wicri:regionArea><wicri:noRegion>Red Cross War Memorial Children’s Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Whitney, Robyn N" sort="Whitney, Robyn N" uniqKey="Whitney R" first="Robyn N" last="Whitney">Robyn N. Whitney</name><affiliation wicri:level="4"><nlm:aff id="A39">Division of Pediatric Neurology, Department of Pediatrics, McMaster Children’s Hospital, McMaster University, Hamilton, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Pediatric Neurology, Department of Pediatrics, McMaster Children’s Hospital, McMaster University, Hamilton</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Williams, Simon G" sort="Williams, Simon G" uniqKey="Williams S" first="Simon G" last="Williams">Simon G. Williams</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Wolfe, Lynne A" sort="Wolfe, Lynne A" uniqKey="Wolfe L" first="Lynne A" last="Wolfe">Lynne A. Wolfe</name><affiliation wicri:level="2"><nlm:aff id="A40">NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Zuberi, Sameer M" sort="Zuberi, Sameer M" uniqKey="Zuberi S" first="Sameer M" last="Zuberi">Sameer M. Zuberi</name><affiliation wicri:level="1"><nlm:aff id="A41">Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow</wicri:regionArea><wicri:noRegion>Glasgow</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A42">School of Medicine, College of Medical, Veterinary & Life Sciences, University of Glasgow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Medicine, College of Medical, Veterinary & Life Sciences, University of Glasgow</wicri:regionArea><placeName><settlement type="city">Glasgow</settlement><region type="country">Écosse</region></placeName><orgName type="university">Université de Glasgow</orgName></affiliation></author><author><name sortKey="Hur, Sun" sort="Hur, Sun" uniqKey="Hur S" first="Sun" last="Hur">Sun Hur</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A3">Boston Children’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Boston Children’s Hospital, Boston, MA 02115</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24686847</idno><idno type="pmc">4004585</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004585</idno><idno type="RBID">PMC:4004585</idno><idno type="doi">10.1038/ng.2933</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">002E33</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002E33</idno><idno type="wicri:Area/Pmc/Curation">002C83</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002C83</idno><idno type="wicri:Area/Pmc/Checkpoint">001577</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001577</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">003781</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003781</idno><idno type="wicri:Area/PubMed/Curation">003667</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003667</idno><idno type="wicri:Area/PubMed/Checkpoint">003667</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003667</idno><idno type="wicri:Area/Ncbi/Merge">001917</idno><idno type="wicri:Area/Ncbi/Curation">001917</idno><idno type="wicri:Area/Ncbi/Checkpoint">001917</idno><idno type="wicri:doubleKey">1061-4036:2014:Rice G:gain:of:function</idno><idno type="wicri:Area/Main/Merge">003963</idno><idno type="wicri:Area/Main/Curation">003927</idno><idno type="wicri:Area/Main/Exploration">003927</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Gain-of-function mutations in <italic>IFIH1</italic> cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling</title><author><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I" last="Rice">Gillian I. Rice</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Del Toro Duany, Yoandris" sort="Del Toro Duany, Yoandris" uniqKey="Del Toro Duany Y" first="Yoandris" last="Del Toro Duany">Yoandris Del Toro Duany</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A3">Boston Children’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Boston Children’s Hospital, Boston, MA 02115</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Jenkinson, Emma M" sort="Jenkinson, Emma M" uniqKey="Jenkinson E" first="Emma M" last="Jenkinson">Emma M. Jenkinson</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Forte, Gabriella Ma" sort="Forte, Gabriella Ma" uniqKey="Forte G" first="Gabriella Ma" last="Forte">Gabriella Ma Forte</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Anderson, Beverley H" sort="Anderson, Beverley H" uniqKey="Anderson B" first="Beverley H" last="Anderson">Beverley H. Anderson</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Ariaudo, Giada" sort="Ariaudo, Giada" uniqKey="Ariaudo G" first="Giada" last="Ariaudo">Giada Ariaudo</name><affiliation wicri:level="1"><nlm:aff id="A4">Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A5">Department of Brain and Behavioral Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Brain and Behavioral Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Bader Meunier, Brigitte" sort="Bader Meunier, Brigitte" uniqKey="Bader Meunier B" first="Brigitte" last="Bader-Meunier">Brigitte Bader-Meunier</name><affiliation wicri:level="3"><nlm:aff id="A6">Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris</wicri:regionArea><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="Baildam, Eileen M" sort="Baildam, Eileen M" uniqKey="Baildam E" first="Eileen M" last="Baildam">Eileen M. Baildam</name><affiliation wicri:level="1"><nlm:aff id="A7">Department of Paediatric Rheumatology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Rheumatology, Alder Hey Children’s NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><affiliation wicri:level="3"><nlm:aff id="A8">Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Beresford, Michael W" sort="Beresford, Michael W" uniqKey="Beresford M" first="Michael W" last="Beresford">Michael W. Beresford</name><affiliation wicri:level="1"><nlm:aff id="A9">Institute of Translational Medicine, University of Liverpool; Department of Paediatric Rheumatology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Translational Medicine, University of Liverpool; Department of Paediatric Rheumatology, Alder Hey Children’s NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></affiliation></author><author><name sortKey="Casarano, Manuela" sort="Casarano, Manuela" uniqKey="Casarano M" first="Manuela" last="Casarano">Manuela Casarano</name><affiliation wicri:level="3"><nlm:aff id="A8">Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Chouchane, Mondher" sort="Chouchane, Mondher" uniqKey="Chouchane M" first="Mondher" last="Chouchane">Mondher Chouchane</name><affiliation wicri:level="3"><nlm:aff id="A10">Service de Pédiatrie 1, CHU de Dijon, Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie 1, CHU de Dijon, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Cimaz, Rolando" sort="Cimaz, Rolando" uniqKey="Cimaz R" first="Rolando" last="Cimaz">Rolando Cimaz</name><affiliation wicri:level="1"><nlm:aff id="A11">AOU Meyer and University of Florence, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>AOU Meyer and University of Florence</wicri:regionArea></affiliation></author><author><name sortKey="Collins, Abigail E" sort="Collins, Abigail E" uniqKey="Collins A" first="Abigail E" last="Collins">Abigail E. Collins</name><affiliation wicri:level="1"><nlm:aff id="A12">Department of Pediatrics, Division of Pediatric Neurology, University of Colorado, Denver, School of Medicine, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Division of Pediatric Neurology, University of Colorado, Denver, School of Medicine</wicri:regionArea><wicri:noRegion>School of Medicine</wicri:noRegion></affiliation></author><author><name sortKey="Cordeiro, Nuno Jv" sort="Cordeiro, Nuno Jv" uniqKey="Cordeiro N" first="Nuno Jv" last="Cordeiro">Nuno Jv Cordeiro</name><affiliation wicri:level="1"><nlm:aff id="A13">Department of Paediatrics, Rainbow House NHS Ayrshire & Arran, Scotland, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatrics, Rainbow House NHS Ayrshire & Arran, Scotland</wicri:regionArea><wicri:noRegion>Scotland</wicri:noRegion></affiliation></author><author><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C" last="Dale">Russell C. Dale</name><affiliation wicri:level="4"><nlm:aff id="A14">Neuroimmunology group, the Children’s Hospital at Westmead, University of Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Neuroimmunology group, the Children’s Hospital at Westmead, University of Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Davidson, Joyce E" sort="Davidson, Joyce E" uniqKey="Davidson J" first="Joyce E" last="Davidson">Joyce E. Davidson</name><affiliation wicri:level="1"><nlm:aff id="A15">Department of Paediatric Rheumatology, Royal Hospital for Sick Children, Glasgow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Rheumatology, Royal Hospital for Sick Children, Glasgow</wicri:regionArea><wicri:noRegion>Glasgow</wicri:noRegion></affiliation></author><author><name sortKey="De Waele, Liesbeth" sort="De Waele, Liesbeth" uniqKey="De Waele L" first="Liesbeth" last="De Waele">Liesbeth De Waele</name><affiliation wicri:level="1"><nlm:aff id="A16">Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><affiliation wicri:level="3"><nlm:aff id="A6">Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of pediatric Immunology and Rheumatology, INSERM U 768, Imagine Foundation, APHP, Hôpital Necker, Paris</wicri:regionArea><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="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="4"><nlm:aff id="A17">Centre de Génétique, Hôpital d’Enfants, CHU de Dijon et Université de Bourgogne, Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU de Dijon et Université de Bourgogne, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement><settlement type="city">Dijon</settlement></placeName><orgName type="university">Université de Bourgogne</orgName></affiliation></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><affiliation wicri:level="1"><nlm:aff id="A18">Child Neurology and Psychiatry Unit. Civil Hospital. Department of Clinical and Experimental Sciences, University of Brescia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit. Civil Hospital. Department of Clinical and Experimental Sciences, University of Brescia</wicri:regionArea><wicri:noRegion>University of Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation wicri:level="3"><nlm:aff id="A19">Service de Génétique Médicale, Inserm, CHU Nantes, UMR-S 957, Nantes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Inserm, CHU Nantes, UMR-S 957, Nantes</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Lagae, Lieven" sort="Lagae, Lieven" uniqKey="Lagae L" first="Lieven" last="Lagae">Lieven Lagae</name><affiliation wicri:level="1"><nlm:aff id="A16">Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Development and Regeneration, KU Leuven, Paediatric Neurology, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Latchman, Andrew R" sort="Latchman, Andrew R" uniqKey="Latchman A" first="Andrew R" last="Latchman">Andrew R. Latchman</name><affiliation wicri:level="4"><nlm:aff id="A20">Division of General Pediatrics, Department of Pediatrics, McMaster Children’s Hospital, McMaster University, Hamilton, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of General Pediatrics, Department of Pediatrics, McMaster Children’s Hospital, McMaster University, Hamilton</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><affiliation wicri:level="3"><nlm:aff id="A21">Université et Faculté de Medecine Paris Descartes, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Université et Faculté de Medecine Paris Descartes, Paris</wicri:regionArea><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="Li, Chumei" sort="Li, Chumei" uniqKey="Li C" first="Chumei" last="Li">Chumei Li</name><affiliation wicri:level="4"><nlm:aff id="A22">Department of Pediatrics, Clinical Genetics Program, McMaster Children’s Hospital, McMaster University, Hamilton, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, Clinical Genetics Program, McMaster Children’s Hospital, McMaster University, Hamilton</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H" last="Livingston">John H. Livingston</name><affiliation wicri:level="1"><nlm:aff id="A23">Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M" last="Lourenço">Charles M. Lourenço</name><affiliation wicri:level="4"><nlm:aff id="A24">Clinics Hospital of Ribeirao Preto, University of São Paulo, Brasil</nlm:aff><country xml:lang="fr">Brésil</country><wicri:regionArea>Clinics Hospital of Ribeirao Preto, University of São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Mancardi, Maria Margherita" sort="Mancardi, Maria Margherita" uniqKey="Mancardi M" first="Maria Margherita" last="Mancardi">Maria Margherita Mancardi</name><affiliation wicri:level="1"><nlm:aff id="A25">O.U. Child Neuropsychiatry, Department of Neuroscience, Giannina Gaslini Institute, Genoa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>O.U. Child Neuropsychiatry, Department of Neuroscience, Giannina Gaslini Institute, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Masurel Paulet, Alice" sort="Masurel Paulet, Alice" uniqKey="Masurel Paulet A" first="Alice" last="Masurel-Paulet">Alice Masurel-Paulet</name><affiliation wicri:level="4"><nlm:aff id="A17">Centre de Génétique, Hôpital d’Enfants, CHU de Dijon et Université de Bourgogne, Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU de Dijon et Université de Bourgogne, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement><settlement type="city">Dijon</settlement></placeName><orgName type="university">Université de Bourgogne</orgName></affiliation></author><author><name sortKey="Mcinnes, Iain B" sort="Mcinnes, Iain B" uniqKey="Mcinnes I" first="Iain B" last="Mcinnes">Iain B. Mcinnes</name><affiliation wicri:level="4"><nlm:aff id="A26">Institute of Infection Immunity and Inflammation, University of Glasgow, Glasgow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Infection Immunity and Inflammation, University of Glasgow, Glasgow</wicri:regionArea><orgName type="university">Université de Glasgow</orgName><placeName><settlement type="city">Glasgow</settlement><region type="country">Écosse</region></placeName></affiliation></author><author><name sortKey="Menezes, Manoj P" sort="Menezes, Manoj P" uniqKey="Menezes M" first="Manoj P" last="Menezes">Manoj P. Menezes</name><affiliation wicri:level="4"><nlm:aff id="A27">Institute for Neuroscience and Muscle Research, the Children’s Hospital at Westmead, University of Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, the Children’s Hospital at Westmead, University of Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><affiliation wicri:level="3"><nlm:aff id="A28">AP-HP, Department of Genetics, Groupe Hospitalier Pitié Salpêtrière, F-75013, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Department of Genetics, Groupe Hospitalier Pitié Salpêtrière, F-75013, Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="O Ullivan, James" sort="O Ullivan, James" uniqKey="O Ullivan J" first="James" last="O Ullivan">James O Ullivan</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><affiliation wicri:level="1"><nlm:aff id="A4">Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Picco, Paolo P" sort="Picco, Paolo P" uniqKey="Picco P" first="Paolo P" last="Picco">Paolo P. Picco</name><affiliation wicri:level="1"><nlm:aff id="A29">Paediatric Rheumatology, Giannina Gaslini Institute, Genoa, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Paediatric Rheumatology, Giannina Gaslini Institute, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Riva, Enrica" sort="Riva, Enrica" uniqKey="Riva E" first="Enrica" last="Riva">Enrica Riva</name><affiliation wicri:level="1"><nlm:aff id="A30">Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Clinical Department of Pediatrics, San Paolo Hospital, University of Milan</wicri:regionArea><wicri:noRegion>University of Milan</wicri:noRegion></affiliation></author><author><name sortKey="Robinson, Robert A" sort="Robinson, Robert A" uniqKey="Robinson R" first="Robert A" last="Robinson">Robert A. Robinson</name><affiliation wicri:level="3"><nlm:aff id="A31">Department of Neurology, Great Ormond Street Hospital for Children, London, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurology, Great Ormond Street Hospital for Children, London</wicri:regionArea><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="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name><affiliation wicri:level="3"><nlm:aff id="A32">AP-HP, Service de Neuropédiatrie & Centre de Référence de Neurogénétique, Hôpital A. Trousseau, HUEP, F-75012 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Service de Neuropédiatrie & Centre de Référence de Neurogénétique, Hôpital A. Trousseau, HUEP, F-75012 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A33">UPMC Univ Paris 06, F-75012 Paris; Inserm U676, F-75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>UPMC Univ Paris 06, F-75012 Paris; Inserm U676, F-75019 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Salvatici, Elisabetta" sort="Salvatici, Elisabetta" uniqKey="Salvatici E" first="Elisabetta" last="Salvatici">Elisabetta Salvatici</name><affiliation wicri:level="1"><nlm:aff id="A30">Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Clinical Department of Pediatrics, San Paolo Hospital, University of Milan</wicri:regionArea><wicri:noRegion>University of Milan</wicri:noRegion></affiliation></author><author><name sortKey="Scott, Christiaan" sort="Scott, Christiaan" uniqKey="Scott C" first="Christiaan" last="Scott">Christiaan Scott</name><affiliation wicri:level="1"><nlm:aff id="A34">University of Cape Town, Red Cross War Memorial Children’s Hospital, Republic of South Africa</nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>University of Cape Town, Red Cross War Memorial Children’s Hospital</wicri:regionArea><wicri:noRegion>Red Cross War Memorial Children’s Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Szybowska, Marta" sort="Szybowska, Marta" uniqKey="Szybowska M" first="Marta" last="Szybowska">Marta Szybowska</name><affiliation wicri:level="4"><nlm:aff id="A22">Department of Pediatrics, Clinical Genetics Program, McMaster Children’s Hospital, McMaster University, Hamilton, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pediatrics, Clinical Genetics Program, McMaster Children’s Hospital, McMaster University, Hamilton</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Tolmie, John L" sort="Tolmie, John L" uniqKey="Tolmie J" first="John L" last="Tolmie">John L. Tolmie</name><affiliation wicri:level="1"><nlm:aff id="A35">Department of Clinical Genetics, Southern General Hospital, Glasgow, Scotland, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Southern General Hospital, Glasgow, Scotland</wicri:regionArea><wicri:noRegion>Scotland</wicri:noRegion></affiliation></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><affiliation wicri:level="3"><nlm:aff id="A36">Department of Paediatric Neurology, Children’s National Medical Center, Washington DC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Paediatric Neurology, Children’s National Medical Center, Washington DC</wicri:regionArea><placeName><settlement type="city">Washington (district de Columbia)</settlement><region type="state">District de Columbia</region></placeName></affiliation></author><author><name sortKey="Vanhulle, Catherine" sort="Vanhulle, Catherine" uniqKey="Vanhulle C" first="Catherine" last="Vanhulle">Catherine Vanhulle</name><affiliation wicri:level="3"><nlm:aff id="A37">Service de Néonatalogie et Réanimation, Hôpital Charles Nicolle, CHU Rouen, F-76031 Rouen, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Néonatalogie et Réanimation, Hôpital Charles Nicolle, CHU Rouen, F-76031 Rouen</wicri:regionArea><placeName><region type="region" nuts="2">Région Normandie</region><region type="old region" nuts="2">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Vieira, Jose Pedro" sort="Vieira, Jose Pedro" uniqKey="Vieira J" first="Jose Pedro" last="Vieira">Jose Pedro Vieira</name><affiliation wicri:level="1"><nlm:aff id="A38">Neurology Department. Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>Neurology Department. Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central</wicri:regionArea><wicri:noRegion>Centro Hospitalar de Lisboa Central</wicri:noRegion></affiliation></author><author><name sortKey="Webb, Kate" sort="Webb, Kate" uniqKey="Webb K" first="Kate" last="Webb">Kate Webb</name><affiliation wicri:level="1"><nlm:aff id="A34">University of Cape Town, Red Cross War Memorial Children’s Hospital, Republic of South Africa</nlm:aff><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>University of Cape Town, Red Cross War Memorial Children’s Hospital</wicri:regionArea><wicri:noRegion>Red Cross War Memorial Children’s Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Whitney, Robyn N" sort="Whitney, Robyn N" uniqKey="Whitney R" first="Robyn N" last="Whitney">Robyn N. Whitney</name><affiliation wicri:level="4"><nlm:aff id="A39">Division of Pediatric Neurology, Department of Pediatrics, McMaster Children’s Hospital, McMaster University, Hamilton, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Pediatric Neurology, Department of Pediatrics, McMaster Children’s Hospital, McMaster University, Hamilton</wicri:regionArea><orgName type="university">Université McMaster</orgName><placeName><settlement type="city">Hamilton (Ontario)</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Williams, Simon G" sort="Williams, Simon G" uniqKey="Williams S" first="Simon G" last="Williams">Simon G. Williams</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author><author><name sortKey="Wolfe, Lynne A" sort="Wolfe, Lynne A" uniqKey="Wolfe L" first="Lynne A" last="Wolfe">Lynne A. Wolfe</name><affiliation wicri:level="2"><nlm:aff id="A40">NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Zuberi, Sameer M" sort="Zuberi, Sameer M" uniqKey="Zuberi S" first="Sameer M" last="Zuberi">Sameer M. Zuberi</name><affiliation wicri:level="1"><nlm:aff id="A41">Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow</wicri:regionArea><wicri:noRegion>Glasgow</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A42">School of Medicine, College of Medical, Veterinary & Life Sciences, University of Glasgow, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Medicine, College of Medical, Veterinary & Life Sciences, University of Glasgow</wicri:regionArea><placeName><settlement type="city">Glasgow</settlement><region type="country">Écosse</region></placeName><orgName type="university">Université de Glasgow</orgName></affiliation></author><author><name sortKey="Hur, Sun" sort="Hur, Sun" uniqKey="Hur S" first="Sun" last="Hur">Sun Hur</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A3">Boston Children’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Boston Children’s Hospital, Boston, MA 02115</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><affiliation wicri:level="4"><nlm:aff id="A1">Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester</wicri:regionArea><placeName><settlement type="city">Manchester</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Manchester</region><settlement type="city">Manchester</settlement></placeName><orgName type="university">Université de Manchester</orgName></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Analysis of Variance</term><term>Autoimmune Diseases of the Nervous System (genetics)</term><term>Autoimmune Diseases of the Nervous System (immunology)</term><term>Base Sequence</term><term>DEAD-box RNA Helicases (chemistry)</term><term>DEAD-box RNA Helicases (genetics)</term><term>Electrophoretic Mobility Shift Assay</term><term>Exome (genetics)</term><term>HEK293 Cells</term><term>Humans</term><term>Interferon Type I (immunology)</term><term>Interferon-Induced Helicase, IFIH1</term><term>Microsatellite Repeats (genetics)</term><term>Models, Molecular</term><term>Molecular Sequence Data</term><term>Mutation (genetics)</term><term>Nervous System Malformations (genetics)</term><term>Nervous System Malformations (immunology)</term><term>Phenotype</term><term>Real-Time Polymerase Chain Reaction</term><term>Sequence Analysis, DNA</term><term>Signal Transduction (genetics)</term><term>Spectrum Analysis</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de séquence d'ADN</term><term>Analyse de variance</term><term>Analyse spectrale</term><term>Cellules HEK293</term><term>DEAD-box RNA helicases ()</term><term>DEAD-box RNA helicases (génétique)</term><term>Données de séquences moléculaires</term><term>Exome (génétique)</term><term>Humains</term><term>Hélicase IFIH1 inductrice de l'interféron</term><term>Interféron de type I (immunologie)</term><term>Maladies auto-immunes du système nerveux (génétique)</term><term>Maladies auto-immunes du système nerveux (immunologie)</term><term>Malformations du système nerveux (génétique)</term><term>Malformations du système nerveux (immunologie)</term><term>Modèles moléculaires</term><term>Mutation (génétique)</term><term>Phénotype</term><term>Réaction de polymérisation en chaine en temps réel</term><term>Répétitions microsatellites (génétique)</term><term>Séquence nucléotidique</term><term>Test de retard de migration électrophorétique</term><term>Transduction du signal (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>DEAD-box RNA Helicases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Autoimmune Diseases of the Nervous System</term><term>DEAD-box RNA Helicases</term><term>Exome</term><term>Microsatellite Repeats</term><term>Mutation</term><term>Nervous System Malformations</term><term>Signal Transduction</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>DEAD-box RNA helicases</term><term>Exome</term><term>Maladies auto-immunes du système nerveux</term><term>Malformations du système nerveux</term><term>Mutation</term><term>Répétitions microsatellites</term><term>Transduction du signal</term></keywords><keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Interféron de type I</term><term>Maladies auto-immunes du système nerveux</term><term>Malformations du système nerveux</term></keywords><keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>Autoimmune Diseases of the Nervous System</term><term>Interferon Type I</term><term>Nervous System Malformations</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Analysis of Variance</term><term>Base Sequence</term><term>Electrophoretic Mobility Shift Assay</term><term>HEK293 Cells</term><term>Humans</term><term>Interferon-Induced Helicase, IFIH1</term><term>Models, Molecular</term><term>Molecular Sequence Data</term><term>Phenotype</term><term>Real-Time Polymerase Chain Reaction</term><term>Sequence Analysis, DNA</term><term>Spectrum Analysis</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Analyse de séquence d'ADN</term><term>Analyse de variance</term><term>Analyse spectrale</term><term>Cellules HEK293</term><term>DEAD-box RNA helicases</term><term>Données de séquences moléculaires</term><term>Humains</term><term>Hélicase IFIH1 inductrice de l'interféron</term><term>Modèles moléculaires</term><term>Phénotype</term><term>Réaction de polymérisation en chaine en temps réel</term><term>Séquence nucléotidique</term><term>Test de retard de migration électrophorétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P4">The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene <italic>IFIH1</italic> (<italic>MDA5</italic>) cause a spectrum of neuro-immunological features consistently associated with an enhanced interferon state. Cellular and biochemical assays indicate that these mutations confer a gain-of-function - so that mutant IFIH1 binds RNA more avidly, leading to increased baseline and ligand-induced interferon signaling. Our results demonstrate that aberrant sensing of nucleic acids can cause immune upregulation.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Gresser, I" uniqKey="Gresser I">I Gresser</name></author><author><name sortKey="Tovey, Mg" uniqKey="Tovey M">MG Tovey</name></author><author><name sortKey="Maury, C" uniqKey="Maury C">C Maury</name></author><author><name sortKey="Chouroulinkov, I" uniqKey="Chouroulinkov I">I Chouroulinkov</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gresser, I" uniqKey="Gresser I">I Gresser</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gresser, I" uniqKey="Gresser I">I Gresser</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Crow, Yj" uniqKey="Crow Y">YJ Crow</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Crow, Yj" uniqKey="Crow Y">YJ Crow</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Crow, Yj" uniqKey="Crow Y">YJ Crow</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rice, Gi" uniqKey="Rice G">GI Rice</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rice, Gi" uniqKey="Rice G">GI Rice</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rice, Gi" uniqKey="Rice G">GI Rice</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Briggs, Ta" uniqKey="Briggs T">TA Briggs</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Goubau, D" uniqKey="Goubau D">D Goubau</name></author><author><name sortKey="Deddouche, S" uniqKey="Deddouche S">S Deddouche</name></author><author><name sortKey="Reis, Esc" uniqKey="Reis E">ESC Reis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Peisley, A" uniqKey="Peisley A">A Peisley</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Peisley, A" uniqKey="Peisley A">A Peisley</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wu, B" uniqKey="Wu B">B Wu</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rice, G" uniqKey="Rice G">G Rice</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tojo, K" uniqKey="Tojo K">K Tojo</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Livingston, Jh" uniqKey="Livingston J">JH Livingston</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kondo, T" uniqKey="Kondo T">T Kondo</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bennett, L" uniqKey="Bennett L">L Bennett</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Baechler, Ec" uniqKey="Baechler E">EC Baechler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cen, H" uniqKey="Cen H">H Cen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Crampton, Sp" uniqKey="Crampton S">SP Crampton</name></author><author><name sortKey="Deane, Ja" uniqKey="Deane J">JA Deane</name></author><author><name sortKey="Feigenbaum, L" uniqKey="Feigenbaum L">L Feigenbaum</name></author><author><name sortKey="Bolland, S" uniqKey="Bolland S">S Bolland</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nejentsev, S" uniqKey="Nejentsev S">S Nejentsev</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Crow, Yj" uniqKey="Crow Y">YJ Crow</name></author><author><name sortKey="Rehwinkel, J" uniqKey="Rehwinkel J">J Rehwinkel</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Stetson, Db" uniqKey="Stetson D">DB Stetson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Deddouche, S" uniqKey="Deddouche S">S Deddouche</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Funabiki, M" uniqKey="Funabiki M">M Funabiki</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Crow, Yj" uniqKey="Crow Y">YJ Crow</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Herries, Dg" uniqKey="Herries D">DG Herries</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Afrique du Sud</li><li>Australie</li><li>Belgique</li><li>Brésil</li><li>Canada</li><li>France</li><li>Italie</li><li>Portugal</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Bourgogne</li><li>Bourgogne-Franche-Comté</li><li>District de Columbia</li><li>Grand Londres</li><li>Grand Manchester</li><li>Haute-Normandie</li><li>Maryland</li><li>Massachusetts</li><li>Nouvelle-Galles du Sud</li><li>Ontario</li><li>Pays de la Loire</li><li>Région Normandie</li><li>Toscane</li><li>Écosse</li><li>État de São Paulo</li><li>Île-de-France</li></region><settlement><li>Dijon</li><li>Glasgow</li><li>Hamilton (Ontario)</li><li>Londres</li><li>Manchester</li><li>Nantes</li><li>Paris</li><li>Pise</li><li>Rouen</li><li>Sydney</li><li>São Paulo</li><li>Washington (district de Columbia)</li></settlement><orgName><li>Université McMaster</li><li>Université de Bourgogne</li><li>Université de Glasgow</li><li>Université de Manchester</li><li>Université de Sydney</li><li>Université de São Paulo</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I" last="Rice">Gillian I. Rice</name></region><name sortKey="Anderson, Beverley H" sort="Anderson, Beverley H" uniqKey="Anderson B" first="Beverley H" last="Anderson">Beverley H. Anderson</name><name sortKey="Baildam, Eileen M" sort="Baildam, Eileen M" uniqKey="Baildam E" first="Eileen M" last="Baildam">Eileen M. Baildam</name><name sortKey="Beresford, Michael W" sort="Beresford, Michael W" uniqKey="Beresford M" first="Michael W" last="Beresford">Michael W. Beresford</name><name sortKey="Cordeiro, Nuno Jv" sort="Cordeiro, Nuno Jv" uniqKey="Cordeiro N" first="Nuno Jv" last="Cordeiro">Nuno Jv Cordeiro</name><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><name sortKey="Davidson, Joyce E" sort="Davidson, Joyce E" uniqKey="Davidson J" first="Joyce E" last="Davidson">Joyce E. Davidson</name><name sortKey="Forte, Gabriella Ma" sort="Forte, Gabriella Ma" uniqKey="Forte G" first="Gabriella Ma" last="Forte">Gabriella Ma Forte</name><name sortKey="Jenkinson, Emma M" sort="Jenkinson, Emma M" uniqKey="Jenkinson E" first="Emma M" last="Jenkinson">Emma M. Jenkinson</name><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H" last="Livingston">John H. Livingston</name><name sortKey="Mcinnes, Iain B" sort="Mcinnes, Iain B" uniqKey="Mcinnes I" first="Iain B" last="Mcinnes">Iain B. Mcinnes</name><name sortKey="O Ullivan, James" sort="O Ullivan, James" uniqKey="O Ullivan J" first="James" last="O Ullivan">James O Ullivan</name><name sortKey="Robinson, Robert A" sort="Robinson, Robert A" uniqKey="Robinson R" first="Robert A" last="Robinson">Robert A. Robinson</name><name sortKey="Tolmie, John L" sort="Tolmie, John L" uniqKey="Tolmie J" first="John L" last="Tolmie">John L. Tolmie</name><name sortKey="Williams, Simon G" sort="Williams, Simon G" uniqKey="Williams S" first="Simon G" last="Williams">Simon G. Williams</name><name sortKey="Zuberi, Sameer M" sort="Zuberi, Sameer M" uniqKey="Zuberi S" first="Sameer M" last="Zuberi">Sameer M. Zuberi</name><name sortKey="Zuberi, Sameer M" sort="Zuberi, Sameer M" uniqKey="Zuberi S" first="Sameer M" last="Zuberi">Sameer M. Zuberi</name></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Del Toro Duany, Yoandris" sort="Del Toro Duany, Yoandris" uniqKey="Del Toro Duany Y" first="Yoandris" last="Del Toro Duany">Yoandris Del Toro Duany</name></region><name sortKey="Collins, Abigail E" sort="Collins, Abigail E" uniqKey="Collins A" first="Abigail E" last="Collins">Abigail E. Collins</name><name sortKey="Del Toro Duany, Yoandris" sort="Del Toro Duany, Yoandris" uniqKey="Del Toro Duany Y" first="Yoandris" last="Del Toro Duany">Yoandris Del Toro Duany</name><name sortKey="Hur, Sun" sort="Hur, Sun" uniqKey="Hur S" first="Sun" last="Hur">Sun Hur</name><name sortKey="Hur, Sun" sort="Hur, Sun" uniqKey="Hur S" first="Sun" last="Hur">Sun Hur</name><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><name sortKey="Wolfe, Lynne A" sort="Wolfe, Lynne A" uniqKey="Wolfe L" first="Lynne A" last="Wolfe">Lynne A. Wolfe</name></country><country name="Italie"><noRegion><name sortKey="Ariaudo, Giada" sort="Ariaudo, Giada" uniqKey="Ariaudo G" first="Giada" last="Ariaudo">Giada Ariaudo</name></noRegion><name sortKey="Ariaudo, Giada" sort="Ariaudo, Giada" uniqKey="Ariaudo G" first="Giada" last="Ariaudo">Giada Ariaudo</name><name sortKey="Battini, Roberta" sort="Battini, Roberta" uniqKey="Battini R" first="Roberta" last="Battini">Roberta Battini</name><name sortKey="Casarano, Manuela" sort="Casarano, Manuela" uniqKey="Casarano M" first="Manuela" last="Casarano">Manuela Casarano</name><name sortKey="Cimaz, Rolando" sort="Cimaz, Rolando" uniqKey="Cimaz R" first="Rolando" last="Cimaz">Rolando Cimaz</name><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><name sortKey="Mancardi, Maria Margherita" sort="Mancardi, Maria Margherita" uniqKey="Mancardi M" first="Maria Margherita" last="Mancardi">Maria Margherita Mancardi</name><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><name sortKey="Picco, Paolo P" sort="Picco, Paolo P" uniqKey="Picco P" first="Paolo P" last="Picco">Paolo P. Picco</name><name sortKey="Riva, Enrica" sort="Riva, Enrica" uniqKey="Riva E" first="Enrica" last="Riva">Enrica Riva</name><name sortKey="Salvatici, Elisabetta" sort="Salvatici, Elisabetta" uniqKey="Salvatici E" first="Elisabetta" last="Salvatici">Elisabetta Salvatici</name></country><country name="France"><region name="Île-de-France"><name sortKey="Bader Meunier, Brigitte" sort="Bader Meunier, Brigitte" uniqKey="Bader Meunier B" first="Brigitte" last="Bader-Meunier">Brigitte Bader-Meunier</name></region><name sortKey="Chouchane, Mondher" sort="Chouchane, Mondher" uniqKey="Chouchane M" first="Mondher" last="Chouchane">Mondher Chouchane</name><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><name sortKey="Masurel Paulet, Alice" sort="Masurel Paulet, Alice" uniqKey="Masurel Paulet A" first="Alice" last="Masurel-Paulet">Alice Masurel-Paulet</name><name sortKey="Mignot, Cyril" sort="Mignot, Cyril" uniqKey="Mignot C" first="Cyril" last="Mignot">Cyril Mignot</name><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name><name sortKey="Vanhulle, Catherine" sort="Vanhulle, Catherine" uniqKey="Vanhulle C" first="Catherine" last="Vanhulle">Catherine Vanhulle</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C" last="Dale">Russell C. Dale</name></region><name sortKey="Menezes, Manoj P" sort="Menezes, Manoj P" uniqKey="Menezes M" first="Manoj P" last="Menezes">Manoj P. Menezes</name></country><country name="Belgique"><noRegion><name sortKey="De Waele, Liesbeth" sort="De Waele, Liesbeth" uniqKey="De Waele L" first="Liesbeth" last="De Waele">Liesbeth De Waele</name></noRegion><name sortKey="Lagae, Lieven" sort="Lagae, Lieven" uniqKey="Lagae L" first="Lieven" last="Lagae">Lieven Lagae</name></country><country name="Canada"><region name="Ontario"><name sortKey="Latchman, Andrew R" sort="Latchman, Andrew R" uniqKey="Latchman A" first="Andrew R" last="Latchman">Andrew R. Latchman</name></region><name sortKey="Li, Chumei" sort="Li, Chumei" uniqKey="Li C" first="Chumei" last="Li">Chumei Li</name><name sortKey="Szybowska, Marta" sort="Szybowska, Marta" uniqKey="Szybowska M" first="Marta" last="Szybowska">Marta Szybowska</name><name sortKey="Whitney, Robyn N" sort="Whitney, Robyn N" uniqKey="Whitney R" first="Robyn N" last="Whitney">Robyn N. Whitney</name></country><country name="Brésil"><region name="État de São Paulo"><name sortKey="Lourenco, Charles M" sort="Lourenco, Charles M" uniqKey="Lourenco C" first="Charles M" last="Lourenço">Charles M. Lourenço</name></region></country><country name="Afrique du Sud"><noRegion><name sortKey="Scott, Christiaan" sort="Scott, Christiaan" uniqKey="Scott C" first="Christiaan" last="Scott">Christiaan Scott</name></noRegion><name sortKey="Webb, Kate" sort="Webb, Kate" uniqKey="Webb K" first="Kate" last="Webb">Kate Webb</name></country><country name="Portugal"><noRegion><name sortKey="Vieira, Jose Pedro" sort="Vieira, Jose Pedro" uniqKey="Vieira J" first="Jose Pedro" last="Vieira">Jose Pedro Vieira</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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