Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
Identifieur interne : 000161 ( Pmc/Curation ); précédent : 000160; suivant : 000162Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
Auteurs : Irit Tirosh [Israël] ; Shiri Spielman [Israël] ; Ortal Barel [Israël] ; Reut Ram [Israël] ; Tali Stauber [Israël] ; Gideon Paret [Israël] ; Marina Rubinsthein [Israël] ; Itai M. Pessach [Israël] ; Maya Gerstein [Israël] ; Yair Anikster [Israël] ; Rachel Shukrun [Israël] ; Adi Dagan [Israël] ; Katerina Adler [Israël] ; Ben Pode-Shakked [Israël] ; Alexander Volkov [Israël] ; Marina Perelman [Israël] ; Shoshana Greenberger [Israël] ; Raz Somech [Israël] ; Einat Lahav [Israël] ; Amar J. Majmundar [États-Unis] ; Shai Padeh [Israël] ; Friedhelm Hildebrandt [États-Unis] ; Asaf Vivante [Israël]Source :
- Pediatric Rheumatology Online Journal [ 1546-0096 ] ; 2019.
Abstract
Systemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified. In the clinical setting, identifying the underlying molecular diagnosis is challenging due to phenotypic and genetic heterogeneity.
We employed whole exome sequencing (WES) in patients presenting with childhood-onset lupus with severe and/or atypical presentations to identify cases that are explained by a single-gene (monogenic) cause.
From January 2015 to June 2018 15 new cases of childhood-onset SLE were diagnosed in Edmond and Lily Safra Children’s Hospital. By WES we identified causative mutations in four subjects in five different genes:
We identified a significant fraction of monogenic SLE etiologies using WES and confirm the genetic locus heterogeneity in childhood-onset lupus. These results highlight the importance of establishing a genetic diagnosis for children with severe or atypical lupus by providing accurate and early etiology-based diagnoses and improving subsequent clinical management.
Url:
DOI: 10.1186/s12969-019-0349-y
PubMed: 31362757
PubMed Central: 6668194
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Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
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<author><name sortKey="Dagan, Adi" sort="Dagan, Adi" uniqKey="Dagan A" first="Adi" last="Dagan">Adi Dagan</name>
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Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
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<author><name sortKey="Adler, Katerina" sort="Adler, Katerina" uniqKey="Adler K" first="Katerina" last="Adler">Katerina Adler</name>
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Tel Hashomer, Israel</nlm:aff>
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<author><name sortKey="Pode Shakked, Ben" sort="Pode Shakked, Ben" uniqKey="Pode Shakked B" first="Ben" last="Pode-Shakked">Ben Pode-Shakked</name>
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Tel-Hashomer, 5265601 Ramat Gan, Israel</nlm:aff>
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Tel-Hashomer, Israel</nlm:aff>
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Tel-Aviv, Israel</nlm:aff>
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<author><name sortKey="Volkov, Alexander" sort="Volkov, Alexander" uniqKey="Volkov A" first="Alexander" last="Volkov">Alexander Volkov</name>
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Tel-Hashomer, Israel</nlm:aff>
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Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
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<author><name sortKey="Perelman, Marina" sort="Perelman, Marina" uniqKey="Perelman M" first="Marina" last="Perelman">Marina Perelman</name>
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Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
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Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
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</author>
<author><name sortKey="Greenberger, Shoshana" sort="Greenberger, Shoshana" uniqKey="Greenberger S" first="Shoshana" last="Greenberger">Shoshana Greenberger</name>
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<institution>Department of Dermatology,</institution>
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Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
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<institution>Tel-Aviv University,</institution>
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Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
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</author>
<author><name sortKey="Somech, Raz" sort="Somech, Raz" uniqKey="Somech R" first="Raz" last="Somech">Raz Somech</name>
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Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
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Tel-Aviv, Israel</nlm:aff>
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<author><name sortKey="Lahav, Einat" sort="Lahav, Einat" uniqKey="Lahav E" first="Einat" last="Lahav">Einat Lahav</name>
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Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
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Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
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5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
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<author><name sortKey="Majmundar, Amar J" sort="Majmundar, Amar J" uniqKey="Majmundar A" first="Amar J." last="Majmundar">Amar J. Majmundar</name>
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<institution>Division of Nephrology, Department of Medicine, Boston Children’s Hospital,</institution>
<institution>Harvard Medical School,</institution>
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Boston, MA USA</nlm:aff>
<country>États-Unis</country>
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</placeName>
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<author><name sortKey="Padeh, Shai" sort="Padeh, Shai" uniqKey="Padeh S" first="Shai" last="Padeh">Shai Padeh</name>
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<institution>Sheba Medical Center,</institution>
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Tel-Hashomer, 5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer, 5265601 Ramat Gan</wicri:regionArea>
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<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
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Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name>
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<institution>Division of Nephrology, Department of Medicine, Boston Children’s Hospital,</institution>
<institution>Harvard Medical School,</institution>
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Boston, MA USA</nlm:aff>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Boston</wicri:cityArea>
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<author><name sortKey="Vivante, Asaf" sort="Vivante, Asaf" uniqKey="Vivante A" first="Asaf" last="Vivante">Asaf Vivante</name>
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<institution>Sheba Medical Center,</institution>
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Tel-Hashomer, 5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer, 5265601 Ramat Gan</wicri:regionArea>
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<institution>Tel-Aviv University,</institution>
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Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
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5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies</title>
<author><name sortKey="Tirosh, Irit" sort="Tirosh, Irit" uniqKey="Tirosh I" first="Irit" last="Tirosh">Irit Tirosh</name>
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<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, 5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer, 5265601 Ramat Gan</wicri:regionArea>
</affiliation>
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<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Rheumatology Unit, Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Spielman, Shiri" sort="Spielman, Shiri" uniqKey="Spielman S" first="Shiri" last="Spielman">Shiri Spielman</name>
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<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Rheumatology Unit, Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Barel, Ortal" sort="Barel, Ortal" uniqKey="Barel O" first="Ortal" last="Barel">Ortal Barel</name>
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<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>The Genomic Unit, Sheba Cancer Research Center,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel Hashomer</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ram, Reut" sort="Ram, Reut" uniqKey="Ram R" first="Reut" last="Ram">Reut Ram</name>
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<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, 5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer, 5265601 Ramat Gan</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Stauber, Tali" sort="Stauber, Tali" uniqKey="Stauber T" first="Tali" last="Stauber">Tali Stauber</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics A Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Paret, Gideon" sort="Paret, Gideon" uniqKey="Paret G" first="Gideon" last="Paret">Gideon Paret</name>
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<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Intensive care unit, Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rubinsthein, Marina" sort="Rubinsthein, Marina" uniqKey="Rubinsthein M" first="Marina" last="Rubinsthein">Marina Rubinsthein</name>
<affiliation wicri:level="1"><nlm:aff id="Aff4"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Intensive care unit, Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pessach, Itai M" sort="Pessach, Itai M" uniqKey="Pessach I" first="Itai M." last="Pessach">Itai M. Pessach</name>
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<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Intensive care unit, Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gerstein, Maya" sort="Gerstein, Maya" uniqKey="Gerstein M" first="Maya" last="Gerstein">Maya Gerstein</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, 5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer, 5265601 Ramat Gan</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Anikster, Yair" sort="Anikster, Yair" uniqKey="Anikster Y" first="Yair" last="Anikster">Yair Anikster</name>
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<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Metabolic Disease Unit, Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Shukrun, Rachel" sort="Shukrun, Rachel" uniqKey="Shukrun R" first="Rachel" last="Shukrun">Rachel Shukrun</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, 5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer, 5265601 Ramat Gan</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dagan, Adi" sort="Dagan, Adi" uniqKey="Dagan A" first="Adi" last="Dagan">Adi Dagan</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, 5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer, 5265601 Ramat Gan</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Adler, Katerina" sort="Adler, Katerina" uniqKey="Adler K" first="Katerina" last="Adler">Katerina Adler</name>
<affiliation wicri:level="1"><nlm:aff id="Aff10"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>The Genomic Unit, Sheba Cancer Research Center,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel Hashomer</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pode Shakked, Ben" sort="Pode Shakked, Ben" uniqKey="Pode Shakked B" first="Ben" last="Pode-Shakked">Ben Pode-Shakked</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, 5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer, 5265601 Ramat Gan</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff5"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Metabolic Disease Unit, Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
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<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Volkov, Alexander" sort="Volkov, Alexander" uniqKey="Volkov A" first="Alexander" last="Volkov">Alexander Volkov</name>
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<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Pathology Department,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Perelman, Marina" sort="Perelman, Marina" uniqKey="Perelman M" first="Marina" last="Perelman">Marina Perelman</name>
<affiliation wicri:level="1"><nlm:aff id="Aff6"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Pathology Department,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Greenberger, Shoshana" sort="Greenberger, Shoshana" uniqKey="Greenberger S" first="Shoshana" last="Greenberger">Shoshana Greenberger</name>
<affiliation wicri:level="1"><nlm:aff id="Aff7"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Dermatology,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Somech, Raz" sort="Somech, Raz" uniqKey="Somech R" first="Raz" last="Somech">Raz Somech</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics A Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lahav, Einat" sort="Lahav, Einat" uniqKey="Lahav E" first="Einat" last="Lahav">Einat Lahav</name>
<affiliation wicri:level="1"><nlm:aff id="Aff3"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics A Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Nephrology Unit, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine, Sheba Medical Center, Tel Hashomer,</institution>
</institution-wrap>
5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>5265601 Ramat Gan</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Majmundar, Amar J" sort="Majmundar, Amar J" uniqKey="Majmundar A" first="Amar J." last="Majmundar">Amar J. Majmundar</name>
<affiliation wicri:level="2"><nlm:aff id="Aff9"><institution-wrap><institution-id institution-id-type="ISNI">000000041936754X</institution-id>
<institution-id institution-id-type="GRID">grid.38142.3c</institution-id>
<institution>Division of Nephrology, Department of Medicine, Boston Children’s Hospital,</institution>
<institution>Harvard Medical School,</institution>
</institution-wrap>
Boston, MA USA</nlm:aff>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Padeh, Shai" sort="Padeh, Shai" uniqKey="Padeh S" first="Shai" last="Padeh">Shai Padeh</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, 5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer, 5265601 Ramat Gan</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name>
<affiliation wicri:level="2"><nlm:aff id="Aff9"><institution-wrap><institution-id institution-id-type="ISNI">000000041936754X</institution-id>
<institution-id institution-id-type="GRID">grid.38142.3c</institution-id>
<institution>Division of Nephrology, Department of Medicine, Boston Children’s Hospital,</institution>
<institution>Harvard Medical School,</institution>
</institution-wrap>
Boston, MA USA</nlm:aff>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Vivante, Asaf" sort="Vivante, Asaf" uniqKey="Vivante A" first="Asaf" last="Vivante">Asaf Vivante</name>
<affiliation wicri:level="1"><nlm:aff id="Aff1"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, 5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Hashomer, 5265601 Ramat Gan</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff8"><institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Tel-Aviv</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="Aff11"><institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Nephrology Unit, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine, Sheba Medical Center, Tel Hashomer,</institution>
</institution-wrap>
5265601 Ramat Gan, Israel</nlm:aff>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>5265601 Ramat Gan</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Pediatric Rheumatology Online Journal</title>
<idno type="eISSN">1546-0096</idno>
<imprint><date when="2019">2019</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p id="Par1">Systemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified. In the clinical setting, identifying the underlying molecular diagnosis is challenging due to phenotypic and genetic heterogeneity.</p>
</sec>
<sec><title>Methods</title>
<p id="Par2">We employed whole exome sequencing (WES) in patients presenting with childhood-onset lupus with severe and/or atypical presentations to identify cases that are explained by a single-gene (monogenic) cause.</p>
</sec>
<sec><title>Results</title>
<p id="Par3">From January 2015 to June 2018 15 new cases of childhood-onset SLE were diagnosed in Edmond and Lily Safra Children’s Hospital. By WES we identified causative mutations in four subjects in five different genes: <italic>C1QC</italic>
, <italic>SLC7A7</italic>
, <italic>MAN2B1</italic>
, <italic>PTEN</italic>
and <italic>STAT1</italic>
. No molecular diagnoses were established on clinical grounds prior to genetic testing.</p>
</sec>
<sec><title>Conclusions</title>
<p id="Par4">We identified a significant fraction of monogenic SLE etiologies using WES and confirm the genetic locus heterogeneity in childhood-onset lupus. These results highlight the importance of establishing a genetic diagnosis for children with severe or atypical lupus by providing accurate and early etiology-based diagnoses and improving subsequent clinical management.</p>
</sec>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Tsokos, Gc" uniqKey="Tsokos G">GC Tsokos</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bundhun, Pk" uniqKey="Bundhun P">PK Bundhun</name>
</author>
<author><name sortKey="Kumari, A" uniqKey="Kumari A">A Kumari</name>
</author>
<author><name sortKey="Huang, F" uniqKey="Huang F">F Huang</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Perry, D" uniqKey="Perry D">D Perry</name>
</author>
<author><name sortKey="Sang, A" uniqKey="Sang A">A Sang</name>
</author>
<author><name sortKey="Yin, Y" uniqKey="Yin Y">Y Yin</name>
</author>
<author><name sortKey="Zheng, Yy" uniqKey="Zheng Y">YY Zheng</name>
</author>
<author><name sortKey="Morel, L" uniqKey="Morel L">L Morel</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Santiago Raber, Ml" uniqKey="Santiago Raber M">ML Santiago-Raber</name>
</author>
<author><name sortKey="Laporte, C" uniqKey="Laporte C">C Laporte</name>
</author>
<author><name sortKey="Reininger, L" uniqKey="Reininger L">L Reininger</name>
</author>
<author><name sortKey="Izui, S" uniqKey="Izui S">S Izui</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Costa Reis, P" uniqKey="Costa Reis P">P Costa-Reis</name>
</author>
<author><name sortKey="Sullivan, Ke" uniqKey="Sullivan K">KE Sullivan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Lo, Ms" uniqKey="Lo M">MS Lo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Vivante, A" uniqKey="Vivante A">A Vivante</name>
</author>
<author><name sortKey="Hwang, Dy" uniqKey="Hwang D">DY Hwang</name>
</author>
<author><name sortKey="Kohl, S" uniqKey="Kohl S">S Kohl</name>
</author>
<author><name sortKey="Chen, J" uniqKey="Chen J">J Chen</name>
</author>
<author><name sortKey="Shril, S" uniqKey="Shril S">S Shril</name>
</author>
<author><name sortKey="Schulz, J" uniqKey="Schulz J">J Schulz</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Wu, J" uniqKey="Wu J">J Wu</name>
</author>
<author><name sortKey="Wilson, J" uniqKey="Wilson J">J Wilson</name>
</author>
<author><name sortKey="He, J" uniqKey="He J">J He</name>
</author>
<author><name sortKey="Xiang, L" uniqKey="Xiang L">L Xiang</name>
</author>
<author><name sortKey="Schur, Ph" uniqKey="Schur P">PH Schur</name>
</author>
<author><name sortKey="Mountz, Jd" uniqKey="Mountz J">JD Mountz</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Liaw, D" uniqKey="Liaw D">D Liaw</name>
</author>
<author><name sortKey="Marsh, Dj" uniqKey="Marsh D">DJ Marsh</name>
</author>
<author><name sortKey="Li, J" uniqKey="Li J">J Li</name>
</author>
<author><name sortKey="Dahia, Pl" uniqKey="Dahia P">PL Dahia</name>
</author>
<author><name sortKey="Wang, Si" uniqKey="Wang S">SI Wang</name>
</author>
<author><name sortKey="Zheng, Z" uniqKey="Zheng Z">Z Zheng</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Liu, L" uniqKey="Liu L">L Liu</name>
</author>
<author><name sortKey="Okada, S" uniqKey="Okada S">S Okada</name>
</author>
<author><name sortKey="Kong, Xf" uniqKey="Kong X">XF Kong</name>
</author>
<author><name sortKey="Kreins, Ay" uniqKey="Kreins A">AY Kreins</name>
</author>
<author><name sortKey="Cypowyj, S" uniqKey="Cypowyj S">S Cypowyj</name>
</author>
<author><name sortKey="Abhyankar, A" uniqKey="Abhyankar A">A Abhyankar</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bowness, P" uniqKey="Bowness P">P Bowness</name>
</author>
<author><name sortKey="Davies, Ka" uniqKey="Davies K">KA Davies</name>
</author>
<author><name sortKey="Norsworthy, Pj" uniqKey="Norsworthy P">PJ Norsworthy</name>
</author>
<author><name sortKey="Athanassiou, P" uniqKey="Athanassiou P">P Athanassiou</name>
</author>
<author><name sortKey="Taylor Wiedeman, J" uniqKey="Taylor Wiedeman J">J Taylor-Wiedeman</name>
</author>
<author><name sortKey="Borysiewicz, Lk" uniqKey="Borysiewicz L">LK Borysiewicz</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Batu, Ed" uniqKey="Batu E">ED Batu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Truedsson, L" uniqKey="Truedsson L">L Truedsson</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Lukkarinen, M" uniqKey="Lukkarinen M">M Lukkarinen</name>
</author>
<author><name sortKey="Parto, K" uniqKey="Parto K">K Parto</name>
</author>
<author><name sortKey="Ruuskanen, O" uniqKey="Ruuskanen O">O Ruuskanen</name>
</author>
<author><name sortKey="Vainio, O" uniqKey="Vainio O">O Vainio</name>
</author>
<author><name sortKey="Kayhty, H" uniqKey="Kayhty H">H Kayhty</name>
</author>
<author><name sortKey="Olander, Rm" uniqKey="Olander R">RM Olander</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct><analytic><author><name sortKey="Urushihara, M" uniqKey="Urushihara M">M Urushihara</name>
</author>
<author><name sortKey="Kagami, S" uniqKey="Kagami S">S Kagami</name>
</author>
<author><name sortKey="Yasutomo, K" uniqKey="Yasutomo K">K Yasutomo</name>
</author>
<author><name sortKey="Ito, M" uniqKey="Ito M">M Ito</name>
</author>
<author><name sortKey="Kondo, S" uniqKey="Kondo S">S Kondo</name>
</author>
<author><name sortKey="Kitamura, A" uniqKey="Kitamura A">A Kitamura</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Posey, Je" uniqKey="Posey J">JE Posey</name>
</author>
<author><name sortKey="Harel, T" uniqKey="Harel T">T Harel</name>
</author>
<author><name sortKey="Liu, P" uniqKey="Liu P">P Liu</name>
</author>
<author><name sortKey="Rosenfeld, Ja" uniqKey="Rosenfeld J">JA Rosenfeld</name>
</author>
<author><name sortKey="James, Ra" uniqKey="James R">RA James</name>
</author>
<author><name sortKey="Coban Akdemir, Zh" uniqKey="Coban Akdemir Z">ZH Coban Akdemir</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ceccarini, Maria" uniqKey="Ceccarini M">Maria Ceccarini</name>
</author>
<author><name sortKey="Codini, Michela" uniqKey="Codini M">Michela Codini</name>
</author>
<author><name sortKey="Conte, Carmela" uniqKey="Conte C">Carmela Conte</name>
</author>
<author><name sortKey="Patria, Federica" uniqKey="Patria F">Federica Patria</name>
</author>
<author><name sortKey="Cataldi, Samuela" uniqKey="Cataldi S">Samuela Cataldi</name>
</author>
<author><name sortKey="Bertelli, Matteo" uniqKey="Bertelli M">Matteo Bertelli</name>
</author>
<author><name sortKey="Albi, Elisabetta" uniqKey="Albi E">Elisabetta Albi</name>
</author>
<author><name sortKey="Beccari, Tommaso" uniqKey="Beccari T">Tommaso Beccari</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Eissing, M" uniqKey="Eissing M">M Eissing</name>
</author>
<author><name sortKey="Ripken, L" uniqKey="Ripken L">L Ripken</name>
</author>
<author><name sortKey="Schreibelt, G" uniqKey="Schreibelt G">G Schreibelt</name>
</author>
<author><name sortKey="Westdorp, H" uniqKey="Westdorp H">H Westdorp</name>
</author>
<author><name sortKey="Ligtenberg, M" uniqKey="Ligtenberg M">M Ligtenberg</name>
</author>
<author><name sortKey="Netea Maier, R" uniqKey="Netea Maier R">R Netea-Maier</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Wu, Xn" uniqKey="Wu X">XN Wu</name>
</author>
<author><name sortKey="Ye, Yx" uniqKey="Ye Y">YX Ye</name>
</author>
<author><name sortKey="Niu, Jw" uniqKey="Niu J">JW Niu</name>
</author>
<author><name sortKey="Li, Y" uniqKey="Li Y">Y Li</name>
</author>
<author><name sortKey="Li, X" uniqKey="Li X">X Li</name>
</author>
<author><name sortKey="You, X" uniqKey="You X">X You</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Van De Veerdonk, Fl" uniqKey="Van De Veerdonk F">FL van de Veerdonk</name>
</author>
<author><name sortKey="Plantinga, Ts" uniqKey="Plantinga T">TS Plantinga</name>
</author>
<author><name sortKey="Hoischen, A" uniqKey="Hoischen A">A Hoischen</name>
</author>
<author><name sortKey="Smeekens, Sp" uniqKey="Smeekens S">SP Smeekens</name>
</author>
<author><name sortKey="Joosten, La" uniqKey="Joosten L">LA Joosten</name>
</author>
<author><name sortKey="Gilissen, C" uniqKey="Gilissen C">C Gilissen</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Toubiana, J" uniqKey="Toubiana J">J Toubiana</name>
</author>
<author><name sortKey="Okada, S" uniqKey="Okada S">S Okada</name>
</author>
<author><name sortKey="Hiller, J" uniqKey="Hiller J">J Hiller</name>
</author>
<author><name sortKey="Oleastro, M" uniqKey="Oleastro M">M Oleastro</name>
</author>
<author><name sortKey="Lagos Gomez, M" uniqKey="Lagos Gomez M">M Lagos Gomez</name>
</author>
<author><name sortKey="Aldave Becerra, Jc" uniqKey="Aldave Becerra J">JC Aldave Becerra</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tanimura, M" uniqKey="Tanimura M">M Tanimura</name>
</author>
<author><name sortKey="Dohi, K" uniqKey="Dohi K">K Dohi</name>
</author>
<author><name sortKey="Hirayama, M" uniqKey="Hirayama M">M Hirayama</name>
</author>
<author><name sortKey="Sato, Y" uniqKey="Sato Y">Y Sato</name>
</author>
<author><name sortKey="Sugiura, E" uniqKey="Sugiura E">E Sugiura</name>
</author>
<author><name sortKey="Nakajima, H" uniqKey="Nakajima H">H Nakajima</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Smyth, Ae" uniqKey="Smyth A">AE Smyth</name>
</author>
<author><name sortKey="Kaleviste, E" uniqKey="Kaleviste E">E Kaleviste</name>
</author>
<author><name sortKey="Snow, A" uniqKey="Snow A">A Snow</name>
</author>
<author><name sortKey="Kisand, K" uniqKey="Kisand K">K Kisand</name>
</author>
<author><name sortKey="Mcmahon, Cj" uniqKey="Mcmahon C">CJ McMahon</name>
</author>
<author><name sortKey="Cant, Aj" uniqKey="Cant A">AJ Cant</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Forbes, Lr" uniqKey="Forbes L">LR Forbes</name>
</author>
<author><name sortKey="Vogel, Tp" uniqKey="Vogel T">TP Vogel</name>
</author>
<author><name sortKey="Cooper, Ma" uniqKey="Cooper M">MA Cooper</name>
</author>
<author><name sortKey="Castro Wagner, J" uniqKey="Castro Wagner J">J Castro-Wagner</name>
</author>
<author><name sortKey="Schussler, E" uniqKey="Schussler E">E Schussler</name>
</author>
<author><name sortKey="Weinacht, Kg" uniqKey="Weinacht K">KG Weinacht</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Zoghi, S" uniqKey="Zoghi S">S Zoghi</name>
</author>
<author><name sortKey="Ziaee, V" uniqKey="Ziaee V">V Ziaee</name>
</author>
<author><name sortKey="Hirschmugl, T" uniqKey="Hirschmugl T">T Hirschmugl</name>
</author>
<author><name sortKey="Jimenez Heredia, R" uniqKey="Jimenez Heredia R">R Jimenez-Heredia</name>
</author>
<author><name sortKey="Krolo, A" uniqKey="Krolo A">A Krolo</name>
</author>
<author><name sortKey="Boztug, K" uniqKey="Boztug K">K Boztug</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Van Schaarenburg, Ra" uniqKey="Van Schaarenburg R">RA van Schaarenburg</name>
</author>
<author><name sortKey="Daha, Na" uniqKey="Daha N">NA Daha</name>
</author>
<author><name sortKey="Schonkeren, Jj" uniqKey="Schonkeren J">JJ Schonkeren</name>
</author>
<author><name sortKey="Nivine Levarht, Ew" uniqKey="Nivine Levarht E">EW Nivine Levarht</name>
</author>
<author><name sortKey="Van Gijlswijk Janssen, Dj" uniqKey="Van Gijlswijk Janssen D">DJ van Gijlswijk-Janssen</name>
</author>
<author><name sortKey="Kurreeman, Fa" uniqKey="Kurreeman F">FA Kurreeman</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Van Schaarenburg, Ra" uniqKey="Van Schaarenburg R">RA van Schaarenburg</name>
</author>
<author><name sortKey="Magro Checa, C" uniqKey="Magro Checa C">C Magro-Checa</name>
</author>
<author><name sortKey="Bakker, Ja" uniqKey="Bakker J">JA Bakker</name>
</author>
<author><name sortKey="Teng, Yk" uniqKey="Teng Y">YK Teng</name>
</author>
<author><name sortKey="Bajema, Im" uniqKey="Bajema I">IM Bajema</name>
</author>
<author><name sortKey="Huizinga, Tw" uniqKey="Huizinga T">TW Huizinga</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Wu, Yl" uniqKey="Wu Y">YL Wu</name>
</author>
<author><name sortKey="Brookshire, Bp" uniqKey="Brookshire B">BP Brookshire</name>
</author>
<author><name sortKey="Verani, Rr" uniqKey="Verani R">RR Verani</name>
</author>
<author><name sortKey="Arnett, Fc" uniqKey="Arnett F">FC Arnett</name>
</author>
<author><name sortKey="Yu, Cy" uniqKey="Yu C">CY Yu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Amano, Mt" uniqKey="Amano M">MT Amano</name>
</author>
<author><name sortKey="Ferriani, Vp" uniqKey="Ferriani V">VP Ferriani</name>
</author>
<author><name sortKey="Florido, Mp" uniqKey="Florido M">MP Florido</name>
</author>
<author><name sortKey="Reis, Es" uniqKey="Reis E">ES Reis</name>
</author>
<author><name sortKey="Delcolli, Mi" uniqKey="Delcolli M">MI Delcolli</name>
</author>
<author><name sortKey="Azzolini, Ae" uniqKey="Azzolini A">AE Azzolini</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Afzali, P" uniqKey="Afzali P">P Afzali</name>
</author>
<author><name sortKey="Isaeian, A" uniqKey="Isaeian A">A Isaeian</name>
</author>
<author><name sortKey="Sadeghi, P" uniqKey="Sadeghi P">P Sadeghi</name>
</author>
<author><name sortKey="Moazzami, B" uniqKey="Moazzami B">B Moazzami</name>
</author>
<author><name sortKey="Parvaneh, N" uniqKey="Parvaneh N">N Parvaneh</name>
</author>
<author><name sortKey="Robatjazi, M" uniqKey="Robatjazi M">M Robatjazi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tsukamoto, H" uniqKey="Tsukamoto H">H Tsukamoto</name>
</author>
<author><name sortKey="Horiuchi, T" uniqKey="Horiuchi T">T Horiuchi</name>
</author>
<author><name sortKey="Kokuba, H" uniqKey="Kokuba H">H Kokuba</name>
</author>
<author><name sortKey="Nagae, S" uniqKey="Nagae S">S Nagae</name>
</author>
<author><name sortKey="Nishizaka, H" uniqKey="Nishizaka H">H Nishizaka</name>
</author>
<author><name sortKey="Sawabe, T" uniqKey="Sawabe T">T Sawabe</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Yang, Y" uniqKey="Yang Y">Y Yang</name>
</author>
<author><name sortKey="Lhotta, K" uniqKey="Lhotta K">K Lhotta</name>
</author>
<author><name sortKey="Chung, Ek" uniqKey="Chung E">EK Chung</name>
</author>
<author><name sortKey="Eder, P" uniqKey="Eder P">P Eder</name>
</author>
<author><name sortKey="Neumair, F" uniqKey="Neumair F">F Neumair</name>
</author>
<author><name sortKey="Yu, Cy" uniqKey="Yu C">CY Yu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Jeremiah, N" uniqKey="Jeremiah N">N Jeremiah</name>
</author>
<author><name sortKey="Neven, B" uniqKey="Neven B">B Neven</name>
</author>
<author><name sortKey="Gentili, M" uniqKey="Gentili M">M Gentili</name>
</author>
<author><name sortKey="Callebaut, I" uniqKey="Callebaut I">I Callebaut</name>
</author>
<author><name sortKey="Maschalidi, S" uniqKey="Maschalidi S">S Maschalidi</name>
</author>
<author><name sortKey="Stolzenberg, Mc" uniqKey="Stolzenberg M">MC Stolzenberg</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ramantani, G" uniqKey="Ramantani G">G Ramantani</name>
</author>
<author><name sortKey="Hausler, M" uniqKey="Hausler M">M Hausler</name>
</author>
<author><name sortKey="Niggemann, P" uniqKey="Niggemann P">P Niggemann</name>
</author>
<author><name sortKey="Wessling, B" uniqKey="Wessling B">B Wessling</name>
</author>
<author><name sortKey="Guttmann, H" uniqKey="Guttmann H">H Guttmann</name>
</author>
<author><name sortKey="Mull, M" uniqKey="Mull M">M Mull</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Crow, Yj" uniqKey="Crow Y">YJ Crow</name>
</author>
<author><name sortKey="Chase, Ds" uniqKey="Chase D">DS Chase</name>
</author>
<author><name sortKey="Lowenstein Schmidt, J" uniqKey="Lowenstein Schmidt J">J Lowenstein Schmidt</name>
</author>
<author><name sortKey="Szynkiewicz, M" uniqKey="Szynkiewicz M">M Szynkiewicz</name>
</author>
<author><name sortKey="Forte, Gm" uniqKey="Forte G">GM Forte</name>
</author>
<author><name sortKey="Gornall, Hl" uniqKey="Gornall H">HL Gornall</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Briggs, Ta" uniqKey="Briggs T">TA Briggs</name>
</author>
<author><name sortKey="Rice, Gi" uniqKey="Rice G">GI Rice</name>
</author>
<author><name sortKey="Daly, S" uniqKey="Daly S">S Daly</name>
</author>
<author><name sortKey="Urquhart, J" uniqKey="Urquhart J">J Urquhart</name>
</author>
<author><name sortKey="Gornall, H" uniqKey="Gornall H">H Gornall</name>
</author>
<author><name sortKey="Bader Meunier, B" uniqKey="Bader Meunier B">B Bader-Meunier</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Crow, Yj" uniqKey="Crow Y">YJ Crow</name>
</author>
<author><name sortKey="Livingston, Jh" uniqKey="Livingston J">JH Livingston</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bodano, A" uniqKey="Bodano A">A Bodano</name>
</author>
<author><name sortKey="Amarelo, J" uniqKey="Amarelo J">J Amarelo</name>
</author>
<author><name sortKey="Gonzalez, A" uniqKey="Gonzalez A">A Gonzalez</name>
</author>
<author><name sortKey="Gomez Reino, Jj" uniqKey="Gomez Reino J">JJ Gomez-Reino</name>
</author>
<author><name sortKey="Conde, C" uniqKey="Conde C">C Conde</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Lee Kirsch, Ma" uniqKey="Lee Kirsch M">MA Lee-Kirsch</name>
</author>
<author><name sortKey="Gong, M" uniqKey="Gong M">M Gong</name>
</author>
<author><name sortKey="Chowdhury, D" uniqKey="Chowdhury D">D Chowdhury</name>
</author>
<author><name sortKey="Senenko, L" uniqKey="Senenko L">L Senenko</name>
</author>
<author><name sortKey="Engel, K" uniqKey="Engel K">K Engel</name>
</author>
<author><name sortKey="Lee, Ya" uniqKey="Lee Y">YA Lee</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Gunther, C" uniqKey="Gunther C">C Gunther</name>
</author>
<author><name sortKey="Kind, B" uniqKey="Kind B">B Kind</name>
</author>
<author><name sortKey="Reijns, Ma" uniqKey="Reijns M">MA Reijns</name>
</author>
<author><name sortKey="Berndt, N" uniqKey="Berndt N">N Berndt</name>
</author>
<author><name sortKey="Martinez Bueno, M" uniqKey="Martinez Bueno M">M Martinez-Bueno</name>
</author>
<author><name sortKey="Wolf, C" uniqKey="Wolf C">C Wolf</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bader Meunier, B" uniqKey="Bader Meunier B">B Bader-Meunier</name>
</author>
<author><name sortKey="Cave, H" uniqKey="Cave H">H Cave</name>
</author>
<author><name sortKey="Jeremiah, N" uniqKey="Jeremiah N">N Jeremiah</name>
</author>
<author><name sortKey="Magerus, A" uniqKey="Magerus A">A Magerus</name>
</author>
<author><name sortKey="Lanzarotti, N" uniqKey="Lanzarotti N">N Lanzarotti</name>
</author>
<author><name sortKey="Rieux Laucat, F" uniqKey="Rieux Laucat F">F Rieux-Laucat</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Brehm, A" uniqKey="Brehm A">A Brehm</name>
</author>
<author><name sortKey="Liu, Y" uniqKey="Liu Y">Y Liu</name>
</author>
<author><name sortKey="Sheikh, A" uniqKey="Sheikh A">A Sheikh</name>
</author>
<author><name sortKey="Marrero, B" uniqKey="Marrero B">B Marrero</name>
</author>
<author><name sortKey="Omoyinmi, E" uniqKey="Omoyinmi E">E Omoyinmi</name>
</author>
<author><name sortKey="Zhou, Q" uniqKey="Zhou Q">Q Zhou</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Al Mayouf, Sm" uniqKey="Al Mayouf S">SM Al-Mayouf</name>
</author>
<author><name sortKey="Alsaleem, A" uniqKey="Alsaleem A">A AlSaleem</name>
</author>
<author><name sortKey="Almutairi, N" uniqKey="Almutairi N">N AlMutairi</name>
</author>
<author><name sortKey="Alsonbul, A" uniqKey="Alsonbul A">A AlSonbul</name>
</author>
<author><name sortKey="Alzaid, T" uniqKey="Alzaid T">T Alzaid</name>
</author>
<author><name sortKey="Alazami, Am" uniqKey="Alazami A">AM Alazami</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Vaishnaw, Ak" uniqKey="Vaishnaw A">AK Vaishnaw</name>
</author>
<author><name sortKey="Toubi, E" uniqKey="Toubi E">E Toubi</name>
</author>
<author><name sortKey="Ohsako, S" uniqKey="Ohsako S">S Ohsako</name>
</author>
<author><name sortKey="Drappa, J" uniqKey="Drappa J">J Drappa</name>
</author>
<author><name sortKey="Buys, S" uniqKey="Buys S">S Buys</name>
</author>
<author><name sortKey="Estrada, J" uniqKey="Estrada J">J Estrada</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kiykim, A" uniqKey="Kiykim A">A Kiykim</name>
</author>
<author><name sortKey="Ogulur, I" uniqKey="Ogulur I">I Ogulur</name>
</author>
<author><name sortKey="Baris, S" uniqKey="Baris S">S Baris</name>
</author>
<author><name sortKey="Salzer, E" uniqKey="Salzer E">E Salzer</name>
</author>
<author><name sortKey="Karakoc Aydiner, E" uniqKey="Karakoc Aydiner E">E Karakoc-Aydiner</name>
</author>
<author><name sortKey="Ozen, Ao" uniqKey="Ozen A">AO Ozen</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Walter, Je" uniqKey="Walter J">JE Walter</name>
</author>
<author><name sortKey="Lo, Ms" uniqKey="Lo M">MS Lo</name>
</author>
<author><name sortKey="Kis Toth, K" uniqKey="Kis Toth K">K Kis-Toth</name>
</author>
<author><name sortKey="Tirosh, I" uniqKey="Tirosh I">I Tirosh</name>
</author>
<author><name sortKey="Frugoni, F" uniqKey="Frugoni F">F Frugoni</name>
</author>
<author><name sortKey="Lee, Yn" uniqKey="Lee Y">YN Lee</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="De Ravin, Ss" uniqKey="De Ravin S">SS De Ravin</name>
</author>
<author><name sortKey="Naumann, N" uniqKey="Naumann N">N Naumann</name>
</author>
<author><name sortKey="Cowen, Ew" uniqKey="Cowen E">EW Cowen</name>
</author>
<author><name sortKey="Friend, J" uniqKey="Friend J">J Friend</name>
</author>
<author><name sortKey="Hilligoss, D" uniqKey="Hilligoss D">D Hilligoss</name>
</author>
<author><name sortKey="Marquesen, M" uniqKey="Marquesen M">M Marquesen</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Massaad, Mj" uniqKey="Massaad M">MJ Massaad</name>
</author>
<author><name sortKey="Zhou, J" uniqKey="Zhou J">J Zhou</name>
</author>
<author><name sortKey="Tsuchimoto, D" uniqKey="Tsuchimoto D">D Tsuchimoto</name>
</author>
<author><name sortKey="Chou, J" uniqKey="Chou J">J Chou</name>
</author>
<author><name sortKey="Jabara, H" uniqKey="Jabara H">H Jabara</name>
</author>
<author><name sortKey="Janssen, E" uniqKey="Janssen E">E Janssen</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tan, W" uniqKey="Tan W">W Tan</name>
</author>
<author><name sortKey="Gu, Z" uniqKey="Gu Z">Z Gu</name>
</author>
<author><name sortKey="Shen, B" uniqKey="Shen B">B Shen</name>
</author>
<author><name sortKey="Jiang, J" uniqKey="Jiang J">J Jiang</name>
</author>
<author><name sortKey="Meng, Y" uniqKey="Meng Y">Y Meng</name>
</author>
<author><name sortKey="Da, Z" uniqKey="Da Z">Z Da</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Di Rocco, M" uniqKey="Di Rocco M">M Di Rocco</name>
</author>
<author><name sortKey="Fantasia, Ar" uniqKey="Fantasia A">AR Fantasia</name>
</author>
<author><name sortKey="Taro, M" uniqKey="Taro M">M Taro</name>
</author>
<author><name sortKey="Loy, A" uniqKey="Loy A">A Loy</name>
</author>
<author><name sortKey="Forlino, A" uniqKey="Forlino A">A Forlino</name>
</author>
<author><name sortKey="Martini, A" uniqKey="Martini A">A Martini</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Aoki, M" uniqKey="Aoki M">M Aoki</name>
</author>
<author><name sortKey="Fukao, T" uniqKey="Fukao T">T Fukao</name>
</author>
<author><name sortKey="Fujita, Y" uniqKey="Fujita Y">Y Fujita</name>
</author>
<author><name sortKey="Watanabe, M" uniqKey="Watanabe M">M Watanabe</name>
</author>
<author><name sortKey="Teramoto, T" uniqKey="Teramoto T">T Teramoto</name>
</author>
<author><name sortKey="Kato, Y" uniqKey="Kato Y">Y Kato</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Botto, M" uniqKey="Botto M">M Botto</name>
</author>
<author><name sortKey="Dell Agnola, C" uniqKey="Dell Agnola C">C Dell'Agnola</name>
</author>
<author><name sortKey="Bygrave, Ae" uniqKey="Bygrave A">AE Bygrave</name>
</author>
<author><name sortKey="Thompson, Em" uniqKey="Thompson E">EM Thompson</name>
</author>
<author><name sortKey="Cook, Ht" uniqKey="Cook H">HT Cook</name>
</author>
<author><name sortKey="Petry, F" uniqKey="Petry F">F Petry</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Chen, Z" uniqKey="Chen Z">Z Chen</name>
</author>
<author><name sortKey="Koralov, Sb" uniqKey="Koralov S">SB Koralov</name>
</author>
<author><name sortKey="Kelsoe, G" uniqKey="Kelsoe G">G Kelsoe</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Higuchi, T" uniqKey="Higuchi T">T Higuchi</name>
</author>
<author><name sortKey="Aiba, Y" uniqKey="Aiba Y">Y Aiba</name>
</author>
<author><name sortKey="Nomura, T" uniqKey="Nomura T">T Nomura</name>
</author>
<author><name sortKey="Matsuda, J" uniqKey="Matsuda J">J Matsuda</name>
</author>
<author><name sortKey="Mochida, K" uniqKey="Mochida K">K Mochida</name>
</author>
<author><name sortKey="Suzuki, M" uniqKey="Suzuki M">M Suzuki</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Salvador, Jm" uniqKey="Salvador J">JM Salvador</name>
</author>
<author><name sortKey="Hollander, Mc" uniqKey="Hollander M">MC Hollander</name>
</author>
<author><name sortKey="Nguyen, At" uniqKey="Nguyen A">AT Nguyen</name>
</author>
<author><name sortKey="Kopp, Jb" uniqKey="Kopp J">JB Kopp</name>
</author>
<author><name sortKey="Barisoni, L" uniqKey="Barisoni L">L Barisoni</name>
</author>
<author><name sortKey="Moore, Jk" uniqKey="Moore J">JK Moore</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Fanzo, Jc" uniqKey="Fanzo J">JC Fanzo</name>
</author>
<author><name sortKey="Yang, W" uniqKey="Yang W">W Yang</name>
</author>
<author><name sortKey="Jang, Sy" uniqKey="Jang S">SY Jang</name>
</author>
<author><name sortKey="Gupta, S" uniqKey="Gupta S">S Gupta</name>
</author>
<author><name sortKey="Chen, Q" uniqKey="Chen Q">Q Chen</name>
</author>
<author><name sortKey="Siddiq, A" uniqKey="Siddiq A">A Siddiq</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Napirei, M" uniqKey="Napirei M">M Napirei</name>
</author>
<author><name sortKey="Karsunky, H" uniqKey="Karsunky H">H Karsunky</name>
</author>
<author><name sortKey="Zevnik, B" uniqKey="Zevnik B">B Zevnik</name>
</author>
<author><name sortKey="Stephan, H" uniqKey="Stephan H">H Stephan</name>
</author>
<author><name sortKey="Mannherz, Hg" uniqKey="Mannherz H">HG Mannherz</name>
</author>
<author><name sortKey="Moroy, T" uniqKey="Moroy T">T Moroy</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Forster, Nicole" uniqKey="Forster N">Nicole Forster</name>
</author>
<author><name sortKey="Gallinat, Sven" uniqKey="Gallinat S">Sven Gallinat</name>
</author>
<author><name sortKey="Jablonska, Jadwiga" uniqKey="Jablonska J">Jadwiga Jablonska</name>
</author>
<author><name sortKey="Weiss, Siegfried" uniqKey="Weiss S">Siegfried Weiss</name>
</author>
<author><name sortKey="Els Sser, Hans Peter" uniqKey="Els Sser H">Hans-Peter Elsässer</name>
</author>
<author><name sortKey="Lutz, Werner" uniqKey="Lutz W">Werner Lutz</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Sugino, Y" uniqKey="Sugino Y">Y Sugino</name>
</author>
<author><name sortKey="Nishikawa, N" uniqKey="Nishikawa N">N Nishikawa</name>
</author>
<author><name sortKey="Yoshimura, K" uniqKey="Yoshimura K">K Yoshimura</name>
</author>
<author><name sortKey="Kuno, S" uniqKey="Kuno S">S Kuno</name>
</author>
<author><name sortKey="Hayashi, Y" uniqKey="Hayashi Y">Y Hayashi</name>
</author>
<author><name sortKey="Yoshimura, N" uniqKey="Yoshimura N">N Yoshimura</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Funabiki, M" uniqKey="Funabiki M">M Funabiki</name>
</author>
<author><name sortKey="Kato, H" uniqKey="Kato H">H Kato</name>
</author>
<author><name sortKey="Miyachi, Y" uniqKey="Miyachi Y">Y Miyachi</name>
</author>
<author><name sortKey="Toki, H" uniqKey="Toki H">H Toki</name>
</author>
<author><name sortKey="Motegi, H" uniqKey="Motegi H">H Motegi</name>
</author>
<author><name sortKey="Inoue, M" uniqKey="Inoue M">M Inoue</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Sun, J" uniqKey="Sun J">J Sun</name>
</author>
<author><name sortKey="Matthias, G" uniqKey="Matthias G">G Matthias</name>
</author>
<author><name sortKey="Mihatsch, Mj" uniqKey="Mihatsch M">MJ Mihatsch</name>
</author>
<author><name sortKey="Georgopoulos, K" uniqKey="Georgopoulos K">K Georgopoulos</name>
</author>
<author><name sortKey="Matthias, P" uniqKey="Matthias P">P Matthias</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Sabrautzki, S" uniqKey="Sabrautzki S">S Sabrautzki</name>
</author>
<author><name sortKey="Janas, E" uniqKey="Janas E">E Janas</name>
</author>
<author><name sortKey="Lorenz Depiereux, B" uniqKey="Lorenz Depiereux B">B Lorenz-Depiereux</name>
</author>
<author><name sortKey="Calzada Wack, J" uniqKey="Calzada Wack J">J Calzada-Wack</name>
</author>
<author><name sortKey="Aguilar Pimentel, Ja" uniqKey="Aguilar Pimentel J">JA Aguilar-Pimentel</name>
</author>
<author><name sortKey="Rathkolb, B" uniqKey="Rathkolb B">B Rathkolb</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Pflegerl, P" uniqKey="Pflegerl P">P Pflegerl</name>
</author>
<author><name sortKey="Vesely, P" uniqKey="Vesely P">P Vesely</name>
</author>
<author><name sortKey="Hantusch, B" uniqKey="Hantusch B">B Hantusch</name>
</author>
<author><name sortKey="Schlederer, M" uniqKey="Schlederer M">M Schlederer</name>
</author>
<author><name sortKey="Zenz, R" uniqKey="Zenz R">R Zenz</name>
</author>
<author><name sortKey="Janig, E" uniqKey="Janig E">E Janig</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Singh, N" uniqKey="Singh N">N Singh</name>
</author>
<author><name sortKey="Johnstone, Db" uniqKey="Johnstone D">DB Johnstone</name>
</author>
<author><name sortKey="Martin, Ka" uniqKey="Martin K">KA Martin</name>
</author>
<author><name sortKey="Tempera, I" uniqKey="Tempera I">I Tempera</name>
</author>
<author><name sortKey="Kaplan, Mj" uniqKey="Kaplan M">MJ Kaplan</name>
</author>
<author><name sortKey="Denny, Mf" uniqKey="Denny M">MF Denny</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Charles, N" uniqKey="Charles N">N Charles</name>
</author>
<author><name sortKey="Hardwick, D" uniqKey="Hardwick D">D Hardwick</name>
</author>
<author><name sortKey="Daugas, E" uniqKey="Daugas E">E Daugas</name>
</author>
<author><name sortKey="Illei, Gg" uniqKey="Illei G">GG Illei</name>
</author>
<author><name sortKey="Rivera, J" uniqKey="Rivera J">J Rivera</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Chui, D" uniqKey="Chui D">D Chui</name>
</author>
<author><name sortKey="Sellakumar, G" uniqKey="Sellakumar G">G Sellakumar</name>
</author>
<author><name sortKey="Green, R" uniqKey="Green R">R Green</name>
</author>
<author><name sortKey="Sutton Smith, M" uniqKey="Sutton Smith M">M Sutton-Smith</name>
</author>
<author><name sortKey="Mcquistan, T" uniqKey="Mcquistan T">T McQuistan</name>
</author>
<author><name sortKey="Marek, K" uniqKey="Marek K">K Marek</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Lu, X" uniqKey="Lu X">X Lu</name>
</author>
<author><name sortKey="Kovalev, Gi" uniqKey="Kovalev G">GI Kovalev</name>
</author>
<author><name sortKey="Chang, H" uniqKey="Chang H">H Chang</name>
</author>
<author><name sortKey="Kallin, E" uniqKey="Kallin E">E Kallin</name>
</author>
<author><name sortKey="Knudsen, G" uniqKey="Knudsen G">G Knudsen</name>
</author>
<author><name sortKey="Xia, L" uniqKey="Xia L">L Xia</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Zhang, B" uniqKey="Zhang B">B Zhang</name>
</author>
<author><name sortKey="Chikuma, S" uniqKey="Chikuma S">S Chikuma</name>
</author>
<author><name sortKey="Hori, S" uniqKey="Hori S">S Hori</name>
</author>
<author><name sortKey="Fagarasan, S" uniqKey="Fagarasan S">S Fagarasan</name>
</author>
<author><name sortKey="Honjo, T" uniqKey="Honjo T">T Honjo</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Senejani, Ag" uniqKey="Senejani A">AG Senejani</name>
</author>
<author><name sortKey="Liu, Y" uniqKey="Liu Y">Y Liu</name>
</author>
<author><name sortKey="Kidane, D" uniqKey="Kidane D">D Kidane</name>
</author>
<author><name sortKey="Maher, Se" uniqKey="Maher S">SE Maher</name>
</author>
<author><name sortKey="Zeiss, Cj" uniqKey="Zeiss C">CJ Zeiss</name>
</author>
<author><name sortKey="Park, Hj" uniqKey="Park H">HJ Park</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Roszer, T" uniqKey="Roszer T">T Roszer</name>
</author>
<author><name sortKey="Menendez Gutierrez, Mp" uniqKey="Menendez Gutierrez M">MP Menendez-Gutierrez</name>
</author>
<author><name sortKey="Lefterova, Mi" uniqKey="Lefterova M">MI Lefterova</name>
</author>
<author><name sortKey="Alameda, D" uniqKey="Alameda D">D Alameda</name>
</author>
<author><name sortKey="Nunez, V" uniqKey="Nunez V">V Nunez</name>
</author>
<author><name sortKey="Lazar, Ma" uniqKey="Lazar M">MA Lazar</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kim, Sj" uniqKey="Kim S">SJ Kim</name>
</author>
<author><name sortKey="Zou, Yr" uniqKey="Zou Y">YR Zou</name>
</author>
<author><name sortKey="Goldstein, J" uniqKey="Goldstein J">J Goldstein</name>
</author>
<author><name sortKey="Reizis, B" uniqKey="Reizis B">B Reizis</name>
</author>
<author><name sortKey="Diamond, B" uniqKey="Diamond B">B Diamond</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Zikherman, J" uniqKey="Zikherman J">J Zikherman</name>
</author>
<author><name sortKey="Hermiston, M" uniqKey="Hermiston M">M Hermiston</name>
</author>
<author><name sortKey="Steiner, D" uniqKey="Steiner D">D Steiner</name>
</author>
<author><name sortKey="Hasegawa, K" uniqKey="Hasegawa K">K Hasegawa</name>
</author>
<author><name sortKey="Chan, A" uniqKey="Chan A">A Chan</name>
</author>
<author><name sortKey="Weiss, A" uniqKey="Weiss A">A Weiss</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Layer, K" uniqKey="Layer K">K Layer</name>
</author>
<author><name sortKey="Lin, G" uniqKey="Lin G">G Lin</name>
</author>
<author><name sortKey="Nencioni, A" uniqKey="Nencioni A">A Nencioni</name>
</author>
<author><name sortKey="Hu, W" uniqKey="Hu W">W Hu</name>
</author>
<author><name sortKey="Schmucker, A" uniqKey="Schmucker A">A Schmucker</name>
</author>
<author><name sortKey="Antov, An" uniqKey="Antov A">AN Antov</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct><analytic><author><name sortKey="Vinuesa, Cg" uniqKey="Vinuesa C">CG Vinuesa</name>
</author>
<author><name sortKey="Cook, Mc" uniqKey="Cook M">MC Cook</name>
</author>
<author><name sortKey="Angelucci, C" uniqKey="Angelucci C">C Angelucci</name>
</author>
<author><name sortKey="Athanasopoulos, V" uniqKey="Athanasopoulos V">V Athanasopoulos</name>
</author>
<author><name sortKey="Rui, L" uniqKey="Rui L">L Rui</name>
</author>
<author><name sortKey="Hill, Km" uniqKey="Hill K">KM Hill</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Sun, X" uniqKey="Sun X">X Sun</name>
</author>
<author><name sortKey="Wiedeman, A" uniqKey="Wiedeman A">A Wiedeman</name>
</author>
<author><name sortKey="Agrawal, N" uniqKey="Agrawal N">N Agrawal</name>
</author>
<author><name sortKey="Teal, Th" uniqKey="Teal T">TH Teal</name>
</author>
<author><name sortKey="Tanaka, L" uniqKey="Tanaka L">L Tanaka</name>
</author>
<author><name sortKey="Hudkins, Kl" uniqKey="Hudkins K">KL Hudkins</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Seshasayee, D" uniqKey="Seshasayee D">D Seshasayee</name>
</author>
<author><name sortKey="Valdez, P" uniqKey="Valdez P">P Valdez</name>
</author>
<author><name sortKey="Yan, M" uniqKey="Yan M">M Yan</name>
</author>
<author><name sortKey="Dixit, Vm" uniqKey="Dixit V">VM Dixit</name>
</author>
<author><name sortKey="Tumas, D" uniqKey="Tumas D">D Tumas</name>
</author>
<author><name sortKey="Grewal, Is" uniqKey="Grewal I">IS Grewal</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Matsushima, Y" uniqKey="Matsushima Y">Y Matsushima</name>
</author>
<author><name sortKey="Kikkawa, Y" uniqKey="Kikkawa Y">Y Kikkawa</name>
</author>
<author><name sortKey="Takada, T" uniqKey="Takada T">T Takada</name>
</author>
<author><name sortKey="Matsuoka, K" uniqKey="Matsuoka K">K Matsuoka</name>
</author>
<author><name sortKey="Seki, Y" uniqKey="Seki Y">Y Seki</name>
</author>
<author><name sortKey="Yoshida, H" uniqKey="Yoshida H">H Yoshida</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Xue, D" uniqKey="Xue D">D Xue</name>
</author>
<author><name sortKey="Shi, H" uniqKey="Shi H">H Shi</name>
</author>
<author><name sortKey="Smith, Jd" uniqKey="Smith J">JD Smith</name>
</author>
<author><name sortKey="Chen, X" uniqKey="Chen X">X Chen</name>
</author>
<author><name sortKey="Noe, Da" uniqKey="Noe D">DA Noe</name>
</author>
<author><name sortKey="Cedervall, T" uniqKey="Cedervall T">T Cedervall</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
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<front><journal-meta><journal-id journal-id-type="nlm-ta">Pediatr Rheumatol Online J</journal-id>
<journal-id journal-id-type="iso-abbrev">Pediatr Rheumatol Online J</journal-id>
<journal-title-group><journal-title>Pediatric Rheumatology Online Journal</journal-title>
</journal-title-group>
<issn pub-type="epub">1546-0096</issn>
<publisher><publisher-name>BioMed Central</publisher-name>
<publisher-loc>London</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">31362757</article-id>
<article-id pub-id-type="pmc">6668194</article-id>
<article-id pub-id-type="publisher-id">349</article-id>
<article-id pub-id-type="doi">10.1186/s12969-019-0349-y</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Tirosh</surname>
<given-names>Irit</given-names>
</name>
<address><email>irit.tirosh@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff2">2</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Spielman</surname>
<given-names>Shiri</given-names>
</name>
<address><email>shiri.spielman@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff2">2</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Barel</surname>
<given-names>Ortal</given-names>
</name>
<address><email>ortal.barel@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ram</surname>
<given-names>Reut</given-names>
</name>
<address><email>reut.ram@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stauber</surname>
<given-names>Tali</given-names>
</name>
<address><email>tali.stauber@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff3">3</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Paret</surname>
<given-names>Gideon</given-names>
</name>
<address><email>gidi.paret@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff4">4</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rubinsthein</surname>
<given-names>Marina</given-names>
</name>
<address><email>marina.rubinshtein@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff4">4</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pessach</surname>
<given-names>Itai M.</given-names>
</name>
<address><email>itai.pessach@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff4">4</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gerstein</surname>
<given-names>Maya</given-names>
</name>
<address><email>maya.gerstein@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Anikster</surname>
<given-names>Yair</given-names>
</name>
<address><email>yair.anikster@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff5">5</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Shukrun</surname>
<given-names>Rachel</given-names>
</name>
<address><email>shukrun.rachel@gmail.com</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Dagan</surname>
<given-names>Adi</given-names>
</name>
<address><email>adi.dagan@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Adler</surname>
<given-names>Katerina</given-names>
</name>
<address><email>katerina.adler@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pode-Shakked</surname>
<given-names>Ben</given-names>
</name>
<address><email>ben.podeshakhed@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff5">5</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Volkov</surname>
<given-names>Alexander</given-names>
</name>
<address><email>alexander.volkov@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff6">6</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Perelman</surname>
<given-names>Marina</given-names>
</name>
<address><email>marina.perelman@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff6">6</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Greenberger</surname>
<given-names>Shoshana</given-names>
</name>
<address><email>shoshana.greenberger@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff7">7</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Somech</surname>
<given-names>Raz</given-names>
</name>
<address><email>raz.somech@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff3">3</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lahav</surname>
<given-names>Einat</given-names>
</name>
<address><email>einat.azaria@sheba.health.gov.il</email>
</address>
<xref ref-type="aff" rid="Aff3">3</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
<xref ref-type="aff" rid="Aff11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Majmundar</surname>
<given-names>Amar J.</given-names>
</name>
<address><email>amar.majmundar@childrens.harvard.edu</email>
</address>
<xref ref-type="aff" rid="Aff9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Padeh</surname>
<given-names>Shai</given-names>
</name>
<address><email>shaypa@mac.com</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hildebrandt</surname>
<given-names>Friedhelm</given-names>
</name>
<address><email>friedhelm.hildebrandt@childrens.harvard.edu</email>
</address>
<xref ref-type="aff" rid="Aff9">9</xref>
</contrib>
<contrib contrib-type="author" corresp="yes"><name><surname>Vivante</surname>
<given-names>Asaf</given-names>
</name>
<address><email>asaf.vivante@sheba.health.gov.il</email>
<email>asafvivante@gmail.com</email>
</address>
<xref ref-type="aff" rid="Aff1">1</xref>
<xref ref-type="aff" rid="Aff8">8</xref>
<xref ref-type="aff" rid="Aff11">11</xref>
</contrib>
<aff id="Aff1"><label>1</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, 5265601 Ramat Gan, Israel</aff>
<aff id="Aff2"><label>2</label>
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</institution-wrap>
Tel-Hashomer, Israel</aff>
<aff id="Aff3"><label>3</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Pediatrics A Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</aff>
<aff id="Aff4"><label>4</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Intensive care unit, Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</aff>
<aff id="Aff5"><label>5</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Metabolic Disease Unit, Edmond and Lily Safra Children’s Hospital,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</aff>
<aff id="Aff6"><label>6</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Pathology Department,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</aff>
<aff id="Aff7"><label>7</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Department of Dermatology,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel-Hashomer, Israel</aff>
<aff id="Aff8"><label>8</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0004 1937 0546</institution-id>
<institution-id institution-id-type="GRID">grid.12136.37</institution-id>
<institution>Sackler Faculty of Medicine,</institution>
<institution>Tel-Aviv University,</institution>
</institution-wrap>
Tel-Aviv, Israel</aff>
<aff id="Aff9"><label>9</label>
<institution-wrap><institution-id institution-id-type="ISNI">000000041936754X</institution-id>
<institution-id institution-id-type="GRID">grid.38142.3c</institution-id>
<institution>Division of Nephrology, Department of Medicine, Boston Children’s Hospital,</institution>
<institution>Harvard Medical School,</institution>
</institution-wrap>
Boston, MA USA</aff>
<aff id="Aff10"><label>10</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>The Genomic Unit, Sheba Cancer Research Center,</institution>
<institution>Sheba Medical Center,</institution>
</institution-wrap>
Tel Hashomer, Israel</aff>
<aff id="Aff11"><label>11</label>
<institution-wrap><institution-id institution-id-type="ISNI">0000 0001 2107 2845</institution-id>
<institution-id institution-id-type="GRID">grid.413795.d</institution-id>
<institution>Nephrology Unit, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine, Sheba Medical Center, Tel Hashomer,</institution>
</institution-wrap>
5265601 Ramat Gan, Israel</aff>
</contrib-group>
<pub-date pub-type="epub"><day>30</day>
<month>7</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>30</day>
<month>7</month>
<year>2019</year>
</pub-date>
<pub-date pub-type="collection"><year>2019</year>
</pub-date>
<volume>17</volume>
<elocation-id>52</elocation-id>
<history><date date-type="received"><day>9</day>
<month>6</month>
<year>2019</year>
</date>
<date date-type="accepted"><day>8</day>
<month>7</month>
<year>2019</year>
</date>
</history>
<permissions><copyright-statement>© The Author(s). 2019</copyright-statement>
<license license-type="OpenAccess"><license-p><bold>Open Access</bold>
This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link>
), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/publicdomain/zero/1.0/">http://creativecommons.org/publicdomain/zero/1.0/</ext-link>
) applies to the data made available in this article, unless otherwise stated.</license-p>
</license>
</permissions>
<abstract id="Abs1"><sec><title>Background</title>
<p id="Par1">Systemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified. In the clinical setting, identifying the underlying molecular diagnosis is challenging due to phenotypic and genetic heterogeneity.</p>
</sec>
<sec><title>Methods</title>
<p id="Par2">We employed whole exome sequencing (WES) in patients presenting with childhood-onset lupus with severe and/or atypical presentations to identify cases that are explained by a single-gene (monogenic) cause.</p>
</sec>
<sec><title>Results</title>
<p id="Par3">From January 2015 to June 2018 15 new cases of childhood-onset SLE were diagnosed in Edmond and Lily Safra Children’s Hospital. By WES we identified causative mutations in four subjects in five different genes: <italic>C1QC</italic>
, <italic>SLC7A7</italic>
, <italic>MAN2B1</italic>
, <italic>PTEN</italic>
and <italic>STAT1</italic>
. No molecular diagnoses were established on clinical grounds prior to genetic testing.</p>
</sec>
<sec><title>Conclusions</title>
<p id="Par4">We identified a significant fraction of monogenic SLE etiologies using WES and confirm the genetic locus heterogeneity in childhood-onset lupus. These results highlight the importance of establishing a genetic diagnosis for children with severe or atypical lupus by providing accurate and early etiology-based diagnoses and improving subsequent clinical management.</p>
</sec>
</abstract>
<kwd-group xml:lang="en"><title>Keywords</title>
<kwd>WES</kwd>
<kwd>SLE</kwd>
<kwd>Monogenic</kwd>
</kwd-group>
<funding-group><award-group><funding-source><institution-wrap><institution-id institution-id-type="FundRef">http://dx.doi.org/10.13039/100000009</institution-id>
<institution>Foundation for the National Institutes of Health</institution>
</institution-wrap>
</funding-source>
<award-id>DK-076683-13</award-id>
<award-id>T32DK-007726</award-id>
<principal-award-recipient><name><surname>Majmundar</surname>
<given-names>Amar J.</given-names>
</name>
<name><surname>Hildebrandt</surname>
<given-names>Friedhelm</given-names>
</name>
</principal-award-recipient>
</award-group>
</funding-group>
<custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name>
<meta-value>© The Author(s) 2019</meta-value>
</custom-meta>
</custom-meta-group>
</article-meta>
</front>
</pmc>
</record>
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