Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
Identifieur interne : 001549 ( Ncbi/Merge ); précédent : 001548; suivant : 001550Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
Auteurs : Gillian I. Rice ; Gabriella M A. Forte ; Marcin Szynkiewicz ; Diana S. Chase ; Alec Aeby ; Mohamed S. Abdel-Hamid ; Sam Ackroyd ; Rebecca Allcock ; Kathryn M. Bailey ; Umberto Balottin ; Christine Barnerias ; Genevieve Bernard ; Christine Bodemer ; Maria P. Botella ; Cristina Cereda ; Kate E. Chandler ; Lyvia Dabydeen ; Russell C. Dale ; Corinne De Laet ; Christian G E L. De Goede ; Mireia Del Toro ; Laila Effat ; Noemi Nunez Enamorado ; Elisa Fazzi ; Blanca Gener ; Madli Haldre ; Jean-Pierre S-M Lin ; John H. Livingston ; Charles Marques Lourenco ; Wilson Marques ; Patrick Oades ; P Rt Peterson ; Magnhild Rasmussen ; Agathe Roubertie ; Johanna Loewenstein Schmidt ; Stavit A. Shalev ; Rogelio Simon ; Ronen Spiegel ; Kathryn J. Swoboda ; Samia A. Temtamy ; Grace Vassallo ; Catheline N. Vilain ; Julie Vogt ; Vanessa Wermenbol ; William P. Whitehouse ; Doriette Soler ; Ivana Olivieri ; Simona Orcesi ; Mona S. Aglan ; Maha S. Zaki ; Ghada M H. Abdel-Salam ; Adeline Vanderver ; Kai Kisand ; Flore Rozenberg ; Pierre Lebon ; Yanick J. CrowSource :
- The Lancet. Neurology [ 1474-4422 ] ; 2013.
Abstract
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (
In this case-control study, samples were collected prospectively from patients with mutation-proven AGS. The expression of six interferon-stimulated genes (ISGs) was measured by quantitative PCR, and the median fold change, when compared with the median of healthy controls, was used to create an interferon score for each patient. Scores higher than the mean of controls plus two SD (>2·466) were designated as positive. Additionally, we collated historical data for interferon activity, measured with a viral cytopathic assay, in CSF and serum from mutation-positive patients with AGS. We also undertook neutralisation assays of interferon activity in serum, and looked for the presence of autoantibodies against a panel of interferon proteins.
74 (90%) of 82 patients had a positive interferon score (median 12·90, IQR 6·14–20·41) compared with two (7%) of 29 controls (median 0·93, IQR 0·57–1·30). Of the eight patients with a negative interferon score, seven had mutations in
AGS is consistently associated with an interferon signature, which is apparently sustained over time and can thus be used to differentiate patients with AGS from controls. If future studies show that interferon status is a reactive biomarker, the measurement of an interferon score might prove useful in the assessment of treatment efficacy in clinical trials.
European Union’s Seventh Framework Programme; European Research Council.
Url:
DOI: 10.1016/S1474-4422(13)70258-8
PubMed: 24183309
PubMed Central: 4349523
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in <italic>TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1</italic>, and <italic>ADAR</italic>: a case-control study</title><author><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I" last="Rice">Gillian I. Rice</name></author><author><name sortKey="Forte, Gabriella M A" sort="Forte, Gabriella M A" uniqKey="Forte G" first="Gabriella M A" last="Forte">Gabriella M A. Forte</name></author><author><name sortKey="Szynkiewicz, Marcin" sort="Szynkiewicz, Marcin" uniqKey="Szynkiewicz M" first="Marcin" last="Szynkiewicz">Marcin Szynkiewicz</name></author><author><name sortKey="Chase, Diana S" sort="Chase, Diana S" uniqKey="Chase D" first="Diana S" last="Chase">Diana S. Chase</name></author><author><name sortKey="Aeby, Alec" sort="Aeby, Alec" uniqKey="Aeby A" first="Alec" last="Aeby">Alec Aeby</name></author><author><name sortKey="Abdel Hamid, Mohamed S" sort="Abdel Hamid, Mohamed S" uniqKey="Abdel Hamid M" first="Mohamed S" last="Abdel-Hamid">Mohamed S. Abdel-Hamid</name></author><author><name sortKey="Ackroyd, Sam" sort="Ackroyd, Sam" uniqKey="Ackroyd S" first="Sam" last="Ackroyd">Sam Ackroyd</name></author><author><name sortKey="Allcock, Rebecca" sort="Allcock, Rebecca" uniqKey="Allcock R" first="Rebecca" last="Allcock">Rebecca Allcock</name></author><author><name sortKey="Bailey, Kathryn M" sort="Bailey, Kathryn M" uniqKey="Bailey K" first="Kathryn M" last="Bailey">Kathryn M. Bailey</name></author><author><name sortKey="Balottin, Umberto" sort="Balottin, Umberto" uniqKey="Balottin U" first="Umberto" last="Balottin">Umberto Balottin</name></author><author><name sortKey="Barnerias, Christine" sort="Barnerias, Christine" uniqKey="Barnerias C" first="Christine" last="Barnerias">Christine Barnerias</name></author><author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Genevieve" last="Bernard">Genevieve Bernard</name></author><author><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name></author><author><name sortKey="Botella, Maria P" sort="Botella, Maria P" uniqKey="Botella M" first="Maria P" last="Botella">Maria P. Botella</name></author><author><name sortKey="Cereda, Cristina" sort="Cereda, Cristina" uniqKey="Cereda C" first="Cristina" last="Cereda">Cristina Cereda</name></author><author><name sortKey="Chandler, Kate E" sort="Chandler, Kate E" uniqKey="Chandler K" first="Kate E" last="Chandler">Kate E. Chandler</name></author><author><name sortKey="Dabydeen, Lyvia" sort="Dabydeen, Lyvia" uniqKey="Dabydeen L" first="Lyvia" last="Dabydeen">Lyvia Dabydeen</name></author><author><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C" last="Dale">Russell C. Dale</name></author><author><name sortKey="De Laet, Corinne" sort="De Laet, Corinne" uniqKey="De Laet C" first="Corinne" last="De Laet">Corinne De Laet</name></author><author><name sortKey="De Goede, Christian G E L" sort="De Goede, Christian G E L" uniqKey="De Goede C" first="Christian G E L" last="De Goede">Christian G E L. De Goede</name></author><author><name sortKey="Del Toro, Mireia" sort="Del Toro, Mireia" uniqKey="Del Toro M" first="Mireia" last="Del Toro">Mireia Del Toro</name></author><author><name sortKey="Effat, Laila" sort="Effat, Laila" uniqKey="Effat L" first="Laila" last="Effat">Laila Effat</name></author><author><name sortKey="Enamorado, Noemi Nunez" sort="Enamorado, Noemi Nunez" uniqKey="Enamorado N" first="Noemi Nunez" last="Enamorado">Noemi Nunez Enamorado</name></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name></author><author><name sortKey="Gener, Blanca" sort="Gener, Blanca" uniqKey="Gener B" first="Blanca" last="Gener">Blanca Gener</name></author><author><name sortKey="Haldre, Madli" sort="Haldre, Madli" uniqKey="Haldre M" first="Madli" last="Haldre">Madli Haldre</name></author><author><name sortKey="Lin, Jean Pierre S M" sort="Lin, Jean Pierre S M" uniqKey="Lin J" first="Jean-Pierre S-M" last="Lin">Jean-Pierre S-M Lin</name></author><author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H" last="Livingston">John H. Livingston</name></author><author><name sortKey="Lourenco, Charles Marques" sort="Lourenco, Charles Marques" uniqKey="Lourenco C" first="Charles Marques" last="Lourenco">Charles Marques Lourenco</name></author><author><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name></author><author><name sortKey="Oades, Patrick" sort="Oades, Patrick" uniqKey="Oades P" first="Patrick" last="Oades">Patrick Oades</name></author><author><name sortKey="Peterson, P Rt" sort="Peterson, P Rt" uniqKey="Peterson P" first="P Rt" last="Peterson">P Rt Peterson</name></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name></author><author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name></author><author><name sortKey="Schmidt, Johanna Loewenstein" sort="Schmidt, Johanna Loewenstein" uniqKey="Schmidt J" first="Johanna Loewenstein" last="Schmidt">Johanna Loewenstein Schmidt</name></author><author><name sortKey="Shalev, Stavit A" sort="Shalev, Stavit A" uniqKey="Shalev S" first="Stavit A" last="Shalev">Stavit A. Shalev</name></author><author><name sortKey="Simon, Rogelio" sort="Simon, Rogelio" uniqKey="Simon R" first="Rogelio" last="Simon">Rogelio Simon</name></author><author><name sortKey="Spiegel, Ronen" sort="Spiegel, Ronen" uniqKey="Spiegel R" first="Ronen" last="Spiegel">Ronen Spiegel</name></author><author><name sortKey="Swoboda, Kathryn J" sort="Swoboda, Kathryn J" uniqKey="Swoboda K" first="Kathryn J" last="Swoboda">Kathryn J. Swoboda</name></author><author><name sortKey="Temtamy, Samia A" sort="Temtamy, Samia A" uniqKey="Temtamy S" first="Samia A" last="Temtamy">Samia A. Temtamy</name></author><author><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name></author><author><name sortKey="Vilain, Catheline N" sort="Vilain, Catheline N" uniqKey="Vilain C" first="Catheline N" last="Vilain">Catheline N. Vilain</name></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name></author><author><name sortKey="Wermenbol, Vanessa" sort="Wermenbol, Vanessa" uniqKey="Wermenbol V" first="Vanessa" last="Wermenbol">Vanessa Wermenbol</name></author><author><name sortKey="Whitehouse, William P" sort="Whitehouse, William P" uniqKey="Whitehouse W" first="William P" last="Whitehouse">William P. Whitehouse</name></author><author><name sortKey="Soler, Doriette" sort="Soler, Doriette" uniqKey="Soler D" first="Doriette" last="Soler">Doriette Soler</name></author><author><name sortKey="Olivieri, Ivana" sort="Olivieri, Ivana" uniqKey="Olivieri I" first="Ivana" last="Olivieri">Ivana Olivieri</name></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name></author><author><name sortKey="Aglan, Mona S" sort="Aglan, Mona S" uniqKey="Aglan M" first="Mona S" last="Aglan">Mona S. Aglan</name></author><author><name sortKey="Zaki, Maha S" sort="Zaki, Maha S" uniqKey="Zaki M" first="Maha S" last="Zaki">Maha S. Zaki</name></author><author><name sortKey="Abdel Salam, Ghada M H" sort="Abdel Salam, Ghada M H" uniqKey="Abdel Salam G" first="Ghada M H" last="Abdel-Salam">Ghada M H. Abdel-Salam</name></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name></author><author><name sortKey="Kisand, Kai" sort="Kisand, Kai" uniqKey="Kisand K" first="Kai" last="Kisand">Kai Kisand</name></author><author><name sortKey="Rozenberg, Flore" sort="Rozenberg, Flore" uniqKey="Rozenberg F" first="Flore" last="Rozenberg">Flore Rozenberg</name></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24183309</idno><idno type="pmc">4349523</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523</idno><idno type="RBID">PMC:4349523</idno><idno type="doi">10.1016/S1474-4422(13)70258-8</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001E08</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E08</idno><idno type="wicri:Area/Pmc/Curation">001C64</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001C64</idno><idno type="wicri:Area/Pmc/Checkpoint">001C45</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001C45</idno><idno type="wicri:Area/Ncbi/Merge">001549</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in <italic>TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1</italic>, and <italic>ADAR</italic>: a case-control study</title><author><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I" last="Rice">Gillian I. Rice</name></author><author><name sortKey="Forte, Gabriella M A" sort="Forte, Gabriella M A" uniqKey="Forte G" first="Gabriella M A" last="Forte">Gabriella M A. Forte</name></author><author><name sortKey="Szynkiewicz, Marcin" sort="Szynkiewicz, Marcin" uniqKey="Szynkiewicz M" first="Marcin" last="Szynkiewicz">Marcin Szynkiewicz</name></author><author><name sortKey="Chase, Diana S" sort="Chase, Diana S" uniqKey="Chase D" first="Diana S" last="Chase">Diana S. Chase</name></author><author><name sortKey="Aeby, Alec" sort="Aeby, Alec" uniqKey="Aeby A" first="Alec" last="Aeby">Alec Aeby</name></author><author><name sortKey="Abdel Hamid, Mohamed S" sort="Abdel Hamid, Mohamed S" uniqKey="Abdel Hamid M" first="Mohamed S" last="Abdel-Hamid">Mohamed S. Abdel-Hamid</name></author><author><name sortKey="Ackroyd, Sam" sort="Ackroyd, Sam" uniqKey="Ackroyd S" first="Sam" last="Ackroyd">Sam Ackroyd</name></author><author><name sortKey="Allcock, Rebecca" sort="Allcock, Rebecca" uniqKey="Allcock R" first="Rebecca" last="Allcock">Rebecca Allcock</name></author><author><name sortKey="Bailey, Kathryn M" sort="Bailey, Kathryn M" uniqKey="Bailey K" first="Kathryn M" last="Bailey">Kathryn M. Bailey</name></author><author><name sortKey="Balottin, Umberto" sort="Balottin, Umberto" uniqKey="Balottin U" first="Umberto" last="Balottin">Umberto Balottin</name></author><author><name sortKey="Barnerias, Christine" sort="Barnerias, Christine" uniqKey="Barnerias C" first="Christine" last="Barnerias">Christine Barnerias</name></author><author><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Genevieve" last="Bernard">Genevieve Bernard</name></author><author><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name></author><author><name sortKey="Botella, Maria P" sort="Botella, Maria P" uniqKey="Botella M" first="Maria P" last="Botella">Maria P. Botella</name></author><author><name sortKey="Cereda, Cristina" sort="Cereda, Cristina" uniqKey="Cereda C" first="Cristina" last="Cereda">Cristina Cereda</name></author><author><name sortKey="Chandler, Kate E" sort="Chandler, Kate E" uniqKey="Chandler K" first="Kate E" last="Chandler">Kate E. Chandler</name></author><author><name sortKey="Dabydeen, Lyvia" sort="Dabydeen, Lyvia" uniqKey="Dabydeen L" first="Lyvia" last="Dabydeen">Lyvia Dabydeen</name></author><author><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C" last="Dale">Russell C. Dale</name></author><author><name sortKey="De Laet, Corinne" sort="De Laet, Corinne" uniqKey="De Laet C" first="Corinne" last="De Laet">Corinne De Laet</name></author><author><name sortKey="De Goede, Christian G E L" sort="De Goede, Christian G E L" uniqKey="De Goede C" first="Christian G E L" last="De Goede">Christian G E L. De Goede</name></author><author><name sortKey="Del Toro, Mireia" sort="Del Toro, Mireia" uniqKey="Del Toro M" first="Mireia" last="Del Toro">Mireia Del Toro</name></author><author><name sortKey="Effat, Laila" sort="Effat, Laila" uniqKey="Effat L" first="Laila" last="Effat">Laila Effat</name></author><author><name sortKey="Enamorado, Noemi Nunez" sort="Enamorado, Noemi Nunez" uniqKey="Enamorado N" first="Noemi Nunez" last="Enamorado">Noemi Nunez Enamorado</name></author><author><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name></author><author><name sortKey="Gener, Blanca" sort="Gener, Blanca" uniqKey="Gener B" first="Blanca" last="Gener">Blanca Gener</name></author><author><name sortKey="Haldre, Madli" sort="Haldre, Madli" uniqKey="Haldre M" first="Madli" last="Haldre">Madli Haldre</name></author><author><name sortKey="Lin, Jean Pierre S M" sort="Lin, Jean Pierre S M" uniqKey="Lin J" first="Jean-Pierre S-M" last="Lin">Jean-Pierre S-M Lin</name></author><author><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H" last="Livingston">John H. Livingston</name></author><author><name sortKey="Lourenco, Charles Marques" sort="Lourenco, Charles Marques" uniqKey="Lourenco C" first="Charles Marques" last="Lourenco">Charles Marques Lourenco</name></author><author><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name></author><author><name sortKey="Oades, Patrick" sort="Oades, Patrick" uniqKey="Oades P" first="Patrick" last="Oades">Patrick Oades</name></author><author><name sortKey="Peterson, P Rt" sort="Peterson, P Rt" uniqKey="Peterson P" first="P Rt" last="Peterson">P Rt Peterson</name></author><author><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name></author><author><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name></author><author><name sortKey="Schmidt, Johanna Loewenstein" sort="Schmidt, Johanna Loewenstein" uniqKey="Schmidt J" first="Johanna Loewenstein" last="Schmidt">Johanna Loewenstein Schmidt</name></author><author><name sortKey="Shalev, Stavit A" sort="Shalev, Stavit A" uniqKey="Shalev S" first="Stavit A" last="Shalev">Stavit A. Shalev</name></author><author><name sortKey="Simon, Rogelio" sort="Simon, Rogelio" uniqKey="Simon R" first="Rogelio" last="Simon">Rogelio Simon</name></author><author><name sortKey="Spiegel, Ronen" sort="Spiegel, Ronen" uniqKey="Spiegel R" first="Ronen" last="Spiegel">Ronen Spiegel</name></author><author><name sortKey="Swoboda, Kathryn J" sort="Swoboda, Kathryn J" uniqKey="Swoboda K" first="Kathryn J" last="Swoboda">Kathryn J. Swoboda</name></author><author><name sortKey="Temtamy, Samia A" sort="Temtamy, Samia A" uniqKey="Temtamy S" first="Samia A" last="Temtamy">Samia A. Temtamy</name></author><author><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name></author><author><name sortKey="Vilain, Catheline N" sort="Vilain, Catheline N" uniqKey="Vilain C" first="Catheline N" last="Vilain">Catheline N. Vilain</name></author><author><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name></author><author><name sortKey="Wermenbol, Vanessa" sort="Wermenbol, Vanessa" uniqKey="Wermenbol V" first="Vanessa" last="Wermenbol">Vanessa Wermenbol</name></author><author><name sortKey="Whitehouse, William P" sort="Whitehouse, William P" uniqKey="Whitehouse W" first="William P" last="Whitehouse">William P. Whitehouse</name></author><author><name sortKey="Soler, Doriette" sort="Soler, Doriette" uniqKey="Soler D" first="Doriette" last="Soler">Doriette Soler</name></author><author><name sortKey="Olivieri, Ivana" sort="Olivieri, Ivana" uniqKey="Olivieri I" first="Ivana" last="Olivieri">Ivana Olivieri</name></author><author><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name></author><author><name sortKey="Aglan, Mona S" sort="Aglan, Mona S" uniqKey="Aglan M" first="Mona S" last="Aglan">Mona S. Aglan</name></author><author><name sortKey="Zaki, Maha S" sort="Zaki, Maha S" uniqKey="Zaki M" first="Maha S" last="Zaki">Maha S. Zaki</name></author><author><name sortKey="Abdel Salam, Ghada M H" sort="Abdel Salam, Ghada M H" uniqKey="Abdel Salam G" first="Ghada M H" last="Abdel-Salam">Ghada M H. Abdel-Salam</name></author><author><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name></author><author><name sortKey="Kisand, Kai" sort="Kisand, Kai" uniqKey="Kisand K" first="Kai" last="Kisand">Kai Kisand</name></author><author><name sortKey="Rozenberg, Flore" sort="Rozenberg, Flore" uniqKey="Rozenberg F" first="Flore" last="Rozenberg">Flore Rozenberg</name></author><author><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name></author></analytic><series><title level="j">The Lancet. Neurology</title><idno type="ISSN">1474-4422</idno><idno type="eISSN">1474-4465</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>Summary</title><sec id="S1"><title>Background</title><p id="P1">Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (<italic>TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1</italic>, and <italic>ADAR</italic>). The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials.</p></sec><sec id="S2"><title>Methods</title><p id="P2">In this case-control study, samples were collected prospectively from patients with mutation-proven AGS. The expression of six interferon-stimulated genes (ISGs) was measured by quantitative PCR, and the median fold change, when compared with the median of healthy controls, was used to create an interferon score for each patient. Scores higher than the mean of controls plus two SD (>2·466) were designated as positive. Additionally, we collated historical data for interferon activity, measured with a viral cytopathic assay, in CSF and serum from mutation-positive patients with AGS. We also undertook neutralisation assays of interferon activity in serum, and looked for the presence of autoantibodies against a panel of interferon proteins.</p></sec><sec id="S3"><title>Findings</title><p id="P3">74 (90%) of 82 patients had a positive interferon score (median 12·90, IQR 6·14–20·41) compared with two (7%) of 29 controls (median 0·93, IQR 0·57–1·30). Of the eight patients with a negative interferon score, seven had mutations in <italic>RNASEH2B</italic> (seven [27%] of all 26 patients with mutations in this gene). Repeat sampling in 16 patients was consistent for the presence or absence of an interferon signature on 39 of 41 occasions. Interferon activity (tested in 147 patients) was negatively correlated with age (CSF, <italic>r</italic>=−0·604; serum, <italic>r</italic>=−0·289), and was higher in CSF than in serum in 104 of 136 paired samples. Neutralisation assays suggested that measurable antiviral activity was related to interferon α production. We did not record significantly increased concentrations of autoantibodies to interferon subtypes in patients with AGS, or an association between the presence of autoantibodies and interferon score or serum interferon activity.</p></sec><sec id="S4"><title>Interpretation</title><p id="P4">AGS is consistently associated with an interferon signature, which is apparently sustained over time and can thus be used to differentiate patients with AGS from controls. If future studies show that interferon status is a reactive biomarker, the measurement of an interferon score might prove useful in the assessment of treatment efficacy in clinical trials.</p></sec><sec id="S5"><title>Funding</title><p id="P5">European Union’s Seventh Framework Programme; European Research Council.</p></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101139309</journal-id><journal-id journal-id-type="pubmed-jr-id">30413</journal-id><journal-id journal-id-type="nlm-ta">Lancet Neurol</journal-id><journal-id journal-id-type="iso-abbrev">Lancet Neurol</journal-id><journal-title-group><journal-title>The Lancet. Neurology</journal-title></journal-title-group><issn pub-type="ppub">1474-4422</issn><issn pub-type="epub">1474-4465</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24183309</article-id><article-id pub-id-type="pmc">4349523</article-id><article-id pub-id-type="doi">10.1016/S1474-4422(13)70258-8</article-id><article-id pub-id-type="manuscript">NIHMS666140</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in <italic>TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1</italic>, and <italic>ADAR</italic>: a case-control study</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Rice</surname><given-names>Gillian I</given-names></name></contrib><contrib contrib-type="author"><name><surname>Forte</surname><given-names>Gabriella M A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Szynkiewicz</surname><given-names>Marcin</given-names></name></contrib><contrib contrib-type="author"><name><surname>Chase</surname><given-names>Diana S</given-names></name></contrib><contrib contrib-type="author"><name><surname>Aeby</surname><given-names>Alec</given-names></name></contrib><contrib contrib-type="author"><name><surname>Abdel-Hamid</surname><given-names>Mohamed S</given-names></name></contrib><contrib contrib-type="author"><name><surname>Ackroyd</surname><given-names>Sam</given-names></name></contrib><contrib contrib-type="author"><name><surname>Allcock</surname><given-names>Rebecca</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bailey</surname><given-names>Kathryn M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Balottin</surname><given-names>Umberto</given-names></name></contrib><contrib contrib-type="author"><name><surname>Barnerias</surname><given-names>Christine</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bernard</surname><given-names>Genevieve</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bodemer</surname><given-names>Christine</given-names></name></contrib><contrib contrib-type="author"><name><surname>Botella</surname><given-names>Maria P</given-names></name></contrib><contrib contrib-type="author"><name><surname>Cereda</surname><given-names>Cristina</given-names></name></contrib><contrib contrib-type="author"><name><surname>Chandler</surname><given-names>Kate E</given-names></name></contrib><contrib contrib-type="author"><name><surname>Dabydeen</surname><given-names>Lyvia</given-names></name></contrib><contrib contrib-type="author"><name><surname>Dale</surname><given-names>Russell C</given-names></name></contrib><contrib contrib-type="author"><name><surname>De Laet</surname><given-names>Corinne</given-names></name></contrib><contrib contrib-type="author"><name><surname>De Goede</surname><given-names>Christian G E L</given-names></name></contrib><contrib contrib-type="author"><name><surname>del Toro</surname><given-names>Mireia</given-names></name></contrib><contrib contrib-type="author"><name><surname>Effat</surname><given-names>Laila</given-names></name></contrib><contrib contrib-type="author"><name><surname>Enamorado</surname><given-names>Noemi Nunez</given-names></name></contrib><contrib contrib-type="author"><name><surname>Fazzi</surname><given-names>Elisa</given-names></name></contrib><contrib contrib-type="author"><name><surname>Gener</surname><given-names>Blanca</given-names></name></contrib><contrib contrib-type="author"><name><surname>Haldre</surname><given-names>Madli</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lin</surname><given-names>Jean-Pierre S-M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Livingston</surname><given-names>John H</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lourenco</surname><given-names>Charles Marques</given-names></name></contrib><contrib contrib-type="author"><name><surname>Marques</surname><given-names>Wilson</given-names><suffix>Jr</suffix></name></contrib><contrib contrib-type="author"><name><surname>Oades</surname><given-names>Patrick</given-names></name></contrib><contrib contrib-type="author"><name><surname>Peterson</surname><given-names>Pärt</given-names></name></contrib><contrib contrib-type="author"><name><surname>Rasmussen</surname><given-names>Magnhild</given-names></name></contrib><contrib contrib-type="author"><name><surname>Roubertie</surname><given-names>Agathe</given-names></name></contrib><contrib contrib-type="author"><name><surname>Schmidt</surname><given-names>Johanna Loewenstein</given-names></name></contrib><contrib contrib-type="author"><name><surname>Shalev</surname><given-names>Stavit A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Simon</surname><given-names>Rogelio</given-names></name></contrib><contrib contrib-type="author"><name><surname>Spiegel</surname><given-names>Ronen</given-names></name></contrib><contrib contrib-type="author"><name><surname>Swoboda</surname><given-names>Kathryn J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Temtamy</surname><given-names>Samia A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Vassallo</surname><given-names>Grace</given-names></name></contrib><contrib contrib-type="author"><name><surname>Vilain</surname><given-names>Catheline N</given-names></name></contrib><contrib contrib-type="author"><name><surname>Vogt</surname><given-names>Julie</given-names></name></contrib><contrib contrib-type="author"><name><surname>Wermenbol</surname><given-names>Vanessa</given-names></name></contrib><contrib contrib-type="author"><name><surname>Whitehouse</surname><given-names>William P</given-names></name></contrib><contrib contrib-type="author"><name><surname>Soler</surname><given-names>Doriette</given-names></name></contrib><contrib contrib-type="author"><name><surname>Olivieri</surname><given-names>Ivana</given-names></name></contrib><contrib contrib-type="author"><name><surname>Orcesi</surname><given-names>Simona</given-names></name></contrib><contrib contrib-type="author"><name><surname>Aglan</surname><given-names>Mona S</given-names></name></contrib><contrib contrib-type="author"><name><surname>Zaki</surname><given-names>Maha S</given-names></name></contrib><contrib contrib-type="author"><name><surname>Abdel-Salam</surname><given-names>Ghada M H</given-names></name></contrib><contrib contrib-type="author"><name><surname>Vanderver</surname><given-names>Adeline</given-names></name></contrib><contrib contrib-type="author"><name><surname>Kisand</surname><given-names>Kai</given-names></name></contrib><contrib contrib-type="author"><name><surname>Rozenberg</surname><given-names>Flore</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lebon</surname><given-names>Pierre</given-names></name></contrib><contrib contrib-type="author"><name><surname>Crow</surname><given-names>Yanick J</given-names></name></contrib><aff id="A1">Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK (G I Rice PhD, G M A Forte MPhil, M Szynkiewicz MSc, D S Chase PhD, Y J Crow PhD); Erasme University Hospital, Universite Libre de Bruxelles (ULB), Brussels, Belgium, (A Aeby MD, C N Vilain MD, V Wermenbol MD); Medical Molecular Genetics Department, (M S Abdel-Hamid MSc, L Effat PhD), and Clinical Genetics Department, (S A Temtamy PhD, M S Aglan PhD, M S Zaki PhD, G M H Abdel-Salam PhD), Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt; Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK (S Ackroyd MB ChB); Department of Clinical Biochemistry, Lancashire Teaching Hospitals NHS Foundation Trust, Preston, UK (R Allcock FRCPath); University Hospitals of Coventry and Warwickshire, Coventry, UK (K M Bailey MRCPCH); Department of Brain and Behavioral Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy, (U Balottin MD); Child Neurology and Psychiatry Unit, (U Balottin, I Olivieri MD, S Orcesi MD), and Laboratory of Experimental Neurobiology (C Cereda PhD), C. Mondino National Neurological Institute, Pavia, Italy; Praticien Hospitalier, Unité de Neurologie Pédiatrique et Centre de Référence des Maladies Neuromusculaires, Hôpital Necker-Enfants Malades, Paris, France (C Barnerias MD); Department of Pediatrics, and Department of Neurology and Neurosurgery, Montreal Children’s Hospital, McGill University Health Center, Montreal, QC, Canada (G Bernard MD); Department of Dermatology, Reference Centre for Cutaneous Rare Diseases (MAGEC), Necker-Enfants Malades APHP, Sorbonne Paris Cité, Université Paris Descartes, Institut Imagine, Paris, France (C Bodemer PhD); Department of Pediatrics, Hospital Universitario Araba, Vitoria-Gasteiz, Spain (M P Botella MD); Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK (K E Chandler MD, Y J Crow); Department of Paediatric Neurology, University Hospitals of Leicester NHS Trust, Leicester, UK (L Dabydeen MRCPCH); TY Nelson Department of Neurology, and Neuroimmunology Group, the Children’s Hospital at Westmead, University of Sydney, Sydney, NSW, Australia (R C Dale PhD); Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels, Belgium (C De Laet MD); Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK (C G E L De Goede FRCPCH); Pediatric Neurology Unit, Hospital Vall d’Hebron, Barcelona, Spain (M del Toro MD); Paediatric Neurology Unit, University Hospital 12 Octubre, Madrid, Spain (N Nunez Enamorado MD, R Simon MD); Department of Clinical and Experimental Sciences, Child Neurology and Psychiatry Unit, University of Brescia, Brescia, Italy (E Fazzi MD); Department of Genetics, BioCruces Health Research Institute, Hospital, Universitario Cruces, Bizkaia, Spain (B Gener MD); Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia (M Haldre BSc, P Peterson PhD, K Kisand PhD); General Neurology and Complex Motor Disorders Service, Evelina Children’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London, UK (J-P S-M Lin PhD); Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK (J H Livingston MB ChB); Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil, (C Marques Lourenco MD, W Marques Jr MD); Royal Devon and Exeter Foundation NHS Trust, Exeter, UK (P Oades FRCPCH); Section for Child Neurology, Women and Children’s Division, Oslo University Hospital, Oslo, Norway (M Rasmussen MD); Neuropediatrie, Hopital Gui de Chauliac, and INSERM U1051, INM, Montpellier, France (A Roubertie MD); Center for Genetic Medicine Research and Department of Neurology, Children’s National Medical Center, George Washington University School of Medicine, Washington, DC, USA, (J Loewenstein Schmidt CGC, A Vanderver MD); The Genetic Institute, Ha’Emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel (S A Shalev MD, R Spiegel MD); Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA (K J Swoboda FACMG); Neurology Department, Royal Manchester Children’s Hospital, Manchester, UK (G Vassallo MD); Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, UK, and West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women’s Hospital, Birmingham, UK (J Vogt MRCP); Nottingham Children’s Hospital, Nottingham University Hospitals NHS Trust, Nottingham, UK (W P Whitehouse FRCPCH); Neuropaediatrics, Department of Paediatrics, Mater Dei Hospital, Tal-Qroqq, Malta (D Soler MD); and Université Paris Descartes, EA 1833 and Hôpital Cochin, Service de Virologie, Paris, France, (F Rozenberg MD, P Lebon MD)</aff></contrib-group><author-notes><corresp id="cor1">Correspondence to: Prof Yanick J Crow, Genetic Medicine, St Mary’s Hospital, Manchester M13 9WL, UK <email>yanickcrow@mac.com</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>25</day><month>2</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>30</day><month>10</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>12</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>04</day><month>3</month><year>2015</year></pub-date><volume>12</volume><issue>12</issue><fpage>1159</fpage><lpage>1169</lpage><pmc-comment>elocation-id from pubmed: 10.1016/S1474-4422(13)70258-8</pmc-comment>
<abstract><title>Summary</title><sec id="S1"><title>Background</title><p id="P1">Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (<italic>TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1</italic>, and <italic>ADAR</italic>). The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials.</p></sec><sec id="S2"><title>Methods</title><p id="P2">In this case-control study, samples were collected prospectively from patients with mutation-proven AGS. The expression of six interferon-stimulated genes (ISGs) was measured by quantitative PCR, and the median fold change, when compared with the median of healthy controls, was used to create an interferon score for each patient. Scores higher than the mean of controls plus two SD (>2·466) were designated as positive. Additionally, we collated historical data for interferon activity, measured with a viral cytopathic assay, in CSF and serum from mutation-positive patients with AGS. We also undertook neutralisation assays of interferon activity in serum, and looked for the presence of autoantibodies against a panel of interferon proteins.</p></sec><sec id="S3"><title>Findings</title><p id="P3">74 (90%) of 82 patients had a positive interferon score (median 12·90, IQR 6·14–20·41) compared with two (7%) of 29 controls (median 0·93, IQR 0·57–1·30). Of the eight patients with a negative interferon score, seven had mutations in <italic>RNASEH2B</italic> (seven [27%] of all 26 patients with mutations in this gene). Repeat sampling in 16 patients was consistent for the presence or absence of an interferon signature on 39 of 41 occasions. Interferon activity (tested in 147 patients) was negatively correlated with age (CSF, <italic>r</italic>=−0·604; serum, <italic>r</italic>=−0·289), and was higher in CSF than in serum in 104 of 136 paired samples. Neutralisation assays suggested that measurable antiviral activity was related to interferon α production. We did not record significantly increased concentrations of autoantibodies to interferon subtypes in patients with AGS, or an association between the presence of autoantibodies and interferon score or serum interferon activity.</p></sec><sec id="S4"><title>Interpretation</title><p id="P4">AGS is consistently associated with an interferon signature, which is apparently sustained over time and can thus be used to differentiate patients with AGS from controls. If future studies show that interferon status is a reactive biomarker, the measurement of an interferon score might prove useful in the assessment of treatment efficacy in clinical trials.</p></sec><sec id="S5"><title>Funding</title><p id="P5">European Union’s Seventh Framework Programme; European Research Council.</p></sec></abstract></article-meta></front></pmc><affiliations><list></list><tree><noCountry><name sortKey="Abdel Hamid, Mohamed S" sort="Abdel Hamid, Mohamed S" uniqKey="Abdel Hamid M" first="Mohamed S" last="Abdel-Hamid">Mohamed S. Abdel-Hamid</name><name sortKey="Abdel Salam, Ghada M H" sort="Abdel Salam, Ghada M H" uniqKey="Abdel Salam G" first="Ghada M H" last="Abdel-Salam">Ghada M H. Abdel-Salam</name><name sortKey="Ackroyd, Sam" sort="Ackroyd, Sam" uniqKey="Ackroyd S" first="Sam" last="Ackroyd">Sam Ackroyd</name><name sortKey="Aeby, Alec" sort="Aeby, Alec" uniqKey="Aeby A" first="Alec" last="Aeby">Alec Aeby</name><name sortKey="Aglan, Mona S" sort="Aglan, Mona S" uniqKey="Aglan M" first="Mona S" last="Aglan">Mona S. Aglan</name><name sortKey="Allcock, Rebecca" sort="Allcock, Rebecca" uniqKey="Allcock R" first="Rebecca" last="Allcock">Rebecca Allcock</name><name sortKey="Bailey, Kathryn M" sort="Bailey, Kathryn M" uniqKey="Bailey K" first="Kathryn M" last="Bailey">Kathryn M. Bailey</name><name sortKey="Balottin, Umberto" sort="Balottin, Umberto" uniqKey="Balottin U" first="Umberto" last="Balottin">Umberto Balottin</name><name sortKey="Barnerias, Christine" sort="Barnerias, Christine" uniqKey="Barnerias C" first="Christine" last="Barnerias">Christine Barnerias</name><name sortKey="Bernard, Genevieve" sort="Bernard, Genevieve" uniqKey="Bernard G" first="Genevieve" last="Bernard">Genevieve Bernard</name><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name><name sortKey="Botella, Maria P" sort="Botella, Maria P" uniqKey="Botella M" first="Maria P" last="Botella">Maria P. Botella</name><name sortKey="Cereda, Cristina" sort="Cereda, Cristina" uniqKey="Cereda C" first="Cristina" last="Cereda">Cristina Cereda</name><name sortKey="Chandler, Kate E" sort="Chandler, Kate E" uniqKey="Chandler K" first="Kate E" last="Chandler">Kate E. Chandler</name><name sortKey="Chase, Diana S" sort="Chase, Diana S" uniqKey="Chase D" first="Diana S" last="Chase">Diana S. Chase</name><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J" last="Crow">Yanick J. Crow</name><name sortKey="Dabydeen, Lyvia" sort="Dabydeen, Lyvia" uniqKey="Dabydeen L" first="Lyvia" last="Dabydeen">Lyvia Dabydeen</name><name sortKey="Dale, Russell C" sort="Dale, Russell C" uniqKey="Dale R" first="Russell C" last="Dale">Russell C. Dale</name><name sortKey="De Goede, Christian G E L" sort="De Goede, Christian G E L" uniqKey="De Goede C" first="Christian G E L" last="De Goede">Christian G E L. De Goede</name><name sortKey="De Laet, Corinne" sort="De Laet, Corinne" uniqKey="De Laet C" first="Corinne" last="De Laet">Corinne De Laet</name><name sortKey="Del Toro, Mireia" sort="Del Toro, Mireia" uniqKey="Del Toro M" first="Mireia" last="Del Toro">Mireia Del Toro</name><name sortKey="Effat, Laila" sort="Effat, Laila" uniqKey="Effat L" first="Laila" last="Effat">Laila Effat</name><name sortKey="Enamorado, Noemi Nunez" sort="Enamorado, Noemi Nunez" uniqKey="Enamorado N" first="Noemi Nunez" last="Enamorado">Noemi Nunez Enamorado</name><name sortKey="Fazzi, Elisa" sort="Fazzi, Elisa" uniqKey="Fazzi E" first="Elisa" last="Fazzi">Elisa Fazzi</name><name sortKey="Forte, Gabriella M A" sort="Forte, Gabriella M A" uniqKey="Forte G" first="Gabriella M A" last="Forte">Gabriella M A. Forte</name><name sortKey="Gener, Blanca" sort="Gener, Blanca" uniqKey="Gener B" first="Blanca" last="Gener">Blanca Gener</name><name sortKey="Haldre, Madli" sort="Haldre, Madli" uniqKey="Haldre M" first="Madli" last="Haldre">Madli Haldre</name><name sortKey="Kisand, Kai" sort="Kisand, Kai" uniqKey="Kisand K" first="Kai" last="Kisand">Kai Kisand</name><name sortKey="Lebon, Pierre" sort="Lebon, Pierre" uniqKey="Lebon P" first="Pierre" last="Lebon">Pierre Lebon</name><name sortKey="Lin, Jean Pierre S M" sort="Lin, Jean Pierre S M" uniqKey="Lin J" first="Jean-Pierre S-M" last="Lin">Jean-Pierre S-M Lin</name><name sortKey="Livingston, John H" sort="Livingston, John H" uniqKey="Livingston J" first="John H" last="Livingston">John H. Livingston</name><name sortKey="Lourenco, Charles Marques" sort="Lourenco, Charles Marques" uniqKey="Lourenco C" first="Charles Marques" last="Lourenco">Charles Marques Lourenco</name><name sortKey="Marques, Wilson" sort="Marques, Wilson" uniqKey="Marques W" first="Wilson" last="Marques">Wilson Marques</name><name sortKey="Oades, Patrick" sort="Oades, Patrick" uniqKey="Oades P" first="Patrick" last="Oades">Patrick Oades</name><name sortKey="Olivieri, Ivana" sort="Olivieri, Ivana" uniqKey="Olivieri I" first="Ivana" last="Olivieri">Ivana Olivieri</name><name sortKey="Orcesi, Simona" sort="Orcesi, Simona" uniqKey="Orcesi S" first="Simona" last="Orcesi">Simona Orcesi</name><name sortKey="Peterson, P Rt" sort="Peterson, P Rt" uniqKey="Peterson P" first="P Rt" last="Peterson">P Rt Peterson</name><name sortKey="Rasmussen, Magnhild" sort="Rasmussen, Magnhild" uniqKey="Rasmussen M" first="Magnhild" last="Rasmussen">Magnhild Rasmussen</name><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I" last="Rice">Gillian I. Rice</name><name sortKey="Roubertie, Agathe" sort="Roubertie, Agathe" uniqKey="Roubertie A" first="Agathe" last="Roubertie">Agathe Roubertie</name><name sortKey="Rozenberg, Flore" sort="Rozenberg, Flore" uniqKey="Rozenberg F" first="Flore" last="Rozenberg">Flore Rozenberg</name><name sortKey="Schmidt, Johanna Loewenstein" sort="Schmidt, Johanna Loewenstein" uniqKey="Schmidt J" first="Johanna Loewenstein" last="Schmidt">Johanna Loewenstein Schmidt</name><name sortKey="Shalev, Stavit A" sort="Shalev, Stavit A" uniqKey="Shalev S" first="Stavit A" last="Shalev">Stavit A. Shalev</name><name sortKey="Simon, Rogelio" sort="Simon, Rogelio" uniqKey="Simon R" first="Rogelio" last="Simon">Rogelio Simon</name><name sortKey="Soler, Doriette" sort="Soler, Doriette" uniqKey="Soler D" first="Doriette" last="Soler">Doriette Soler</name><name sortKey="Spiegel, Ronen" sort="Spiegel, Ronen" uniqKey="Spiegel R" first="Ronen" last="Spiegel">Ronen Spiegel</name><name sortKey="Swoboda, Kathryn J" sort="Swoboda, Kathryn J" uniqKey="Swoboda K" first="Kathryn J" last="Swoboda">Kathryn J. Swoboda</name><name sortKey="Szynkiewicz, Marcin" sort="Szynkiewicz, Marcin" uniqKey="Szynkiewicz M" first="Marcin" last="Szynkiewicz">Marcin Szynkiewicz</name><name sortKey="Temtamy, Samia A" sort="Temtamy, Samia A" uniqKey="Temtamy S" first="Samia A" last="Temtamy">Samia A. Temtamy</name><name sortKey="Vanderver, Adeline" sort="Vanderver, Adeline" uniqKey="Vanderver A" first="Adeline" last="Vanderver">Adeline Vanderver</name><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name><name sortKey="Vilain, Catheline N" sort="Vilain, Catheline N" uniqKey="Vilain C" first="Catheline N" last="Vilain">Catheline N. Vilain</name><name sortKey="Vogt, Julie" sort="Vogt, Julie" uniqKey="Vogt J" first="Julie" last="Vogt">Julie Vogt</name><name sortKey="Wermenbol, Vanessa" sort="Wermenbol, Vanessa" uniqKey="Wermenbol V" first="Vanessa" last="Wermenbol">Vanessa Wermenbol</name><name sortKey="Whitehouse, William P" sort="Whitehouse, William P" uniqKey="Whitehouse W" first="William P" last="Whitehouse">William P. Whitehouse</name><name sortKey="Zaki, Maha S" sort="Zaki, Maha S" uniqKey="Zaki M" first="Maha S" last="Zaki">Maha S. 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