COPA Syndrome as a Cause of Lupus Nephritis
Identifieur interne : 000315 ( Pmc/Corpus ); précédent : 000314; suivant : 000316COPA Syndrome as a Cause of Lupus Nephritis
Auteurs : Siham Boulisfane-El Khalifi ; Sebastien Viel ; Annie Lahoche ; Marie-Louise Frémond ; Jonathan Lopez ; Christine Lombard ; Francois Dubos ; Héloise Reumaux ; Viviane Gnemmi ; Marie Legendre ; Yanick J. Crow ; Caroline Thumerelle ; Alexandre BelotSource :
- Kidney International Reports [ 2468-0249 ] ; 2019.
Url:
DOI: 10.1016/j.ekir.2019.04.014
PubMed: 31440710
PubMed Central: 6698288
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">COPA Syndrome as a Cause of Lupus Nephritis</title><author><name sortKey="Boulisfane El Khalifi, Siham" sort="Boulisfane El Khalifi, Siham" uniqKey="Boulisfane El Khalifi S" first="Siham" last="Boulisfane-El Khalifi">Siham Boulisfane-El Khalifi</name><affiliation><nlm:aff id="aff1">Univ Lille, CHU Lille, Urgences Pédiatriques Maladies Infectieuses et Rhumatologie Pédiatrique, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Viel, Sebastien" sort="Viel, Sebastien" uniqKey="Viel S" first="Sebastien" last="Viel">Sebastien Viel</name><affiliation><nlm:aff id="aff2">Service d'Immunologie Biologique, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Pierre-Bénite, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Université de Lyon, Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Lahoche, Annie" sort="Lahoche, Annie" uniqKey="Lahoche A" first="Annie" last="Lahoche">Annie Lahoche</name><affiliation><nlm:aff id="aff5">Service de Néphrologie Pédiatrique, Hopital Jeanne de Flandres, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Fremond, Marie Louise" sort="Fremond, Marie Louise" uniqKey="Fremond M" first="Marie-Louise" last="Frémond">Marie-Louise Frémond</name><affiliation><nlm:aff id="aff6">Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital-APHP, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Lopez, Jonathan" sort="Lopez, Jonathan" uniqKey="Lopez J" first="Jonathan" last="Lopez">Jonathan Lopez</name><affiliation><nlm:aff id="aff2">Service d'Immunologie Biologique, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Pierre-Bénite, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Université de Lyon, Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff8">Centre de Recherche en Cancérologie de Lyon, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Lombard, Christine" sort="Lombard, Christine" uniqKey="Lombard C" first="Christine" last="Lombard">Christine Lombard</name><affiliation><nlm:aff id="aff2">Service d'Immunologie Biologique, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Pierre-Bénite, France</nlm:aff></affiliation></author><author><name sortKey="Dubos, Francois" sort="Dubos, Francois" uniqKey="Dubos F" first="Francois" last="Dubos">Francois Dubos</name><affiliation><nlm:aff id="aff1">Univ Lille, CHU Lille, Urgences Pédiatriques Maladies Infectieuses et Rhumatologie Pédiatrique, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Reumaux, Heloise" sort="Reumaux, Heloise" uniqKey="Reumaux H" first="Héloise" last="Reumaux">Héloise Reumaux</name><affiliation><nlm:aff id="aff1">Univ Lille, CHU Lille, Urgences Pédiatriques Maladies Infectieuses et Rhumatologie Pédiatrique, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Gnemmi, Viviane" sort="Gnemmi, Viviane" uniqKey="Gnemmi V" first="Viviane" last="Gnemmi">Viviane Gnemmi</name><affiliation><nlm:aff id="aff9">Univ Lille, Inserm UMR-S 1172, CHU Lille, Institut de Pathologie, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Legendre, Marie" sort="Legendre, Marie" uniqKey="Legendre M" first="Marie" last="Legendre">Marie Legendre</name><affiliation><nlm:aff id="aff10">Sorbonne Université, Assistance Publique Hôpitaux de Paris, Département de Génétique Médicale, U.F. de Génétique Moléculaire, Hôpital Armand Trousseau, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><affiliation><nlm:aff id="aff7">Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff12">Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Thumerelle, Caroline" sort="Thumerelle, Caroline" uniqKey="Thumerelle C" first="Caroline" last="Thumerelle">Caroline Thumerelle</name><affiliation><nlm:aff id="aff13">CHU Lille, Service de Pneumologie Pédiatrique, Hopital Jeanne de Flandre, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Belot, Alexandre" sort="Belot, Alexandre" uniqKey="Belot A" first="Alexandre" last="Belot">Alexandre Belot</name><affiliation><nlm:aff id="aff3">Université de Lyon, Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Hospices Civils de Lyon, Paediatric Nephrology, Rheumatology, Dermatology Unit, National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases (RAISE), Mother and Children University Hospital, Bron, France</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">31440710</idno><idno type="pmc">6698288</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698288</idno><idno type="RBID">PMC:6698288</idno><idno type="doi">10.1016/j.ekir.2019.04.014</idno><date when="2019">2019</date><idno type="wicri:Area/Pmc/Corpus">000315</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000315</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">COPA Syndrome as a Cause of Lupus Nephritis</title><author><name sortKey="Boulisfane El Khalifi, Siham" sort="Boulisfane El Khalifi, Siham" uniqKey="Boulisfane El Khalifi S" first="Siham" last="Boulisfane-El Khalifi">Siham Boulisfane-El Khalifi</name><affiliation><nlm:aff id="aff1">Univ Lille, CHU Lille, Urgences Pédiatriques Maladies Infectieuses et Rhumatologie Pédiatrique, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Viel, Sebastien" sort="Viel, Sebastien" uniqKey="Viel S" first="Sebastien" last="Viel">Sebastien Viel</name><affiliation><nlm:aff id="aff2">Service d'Immunologie Biologique, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Pierre-Bénite, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Université de Lyon, Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Lahoche, Annie" sort="Lahoche, Annie" uniqKey="Lahoche A" first="Annie" last="Lahoche">Annie Lahoche</name><affiliation><nlm:aff id="aff5">Service de Néphrologie Pédiatrique, Hopital Jeanne de Flandres, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Fremond, Marie Louise" sort="Fremond, Marie Louise" uniqKey="Fremond M" first="Marie-Louise" last="Frémond">Marie-Louise Frémond</name><affiliation><nlm:aff id="aff6">Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital-APHP, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Lopez, Jonathan" sort="Lopez, Jonathan" uniqKey="Lopez J" first="Jonathan" last="Lopez">Jonathan Lopez</name><affiliation><nlm:aff id="aff2">Service d'Immunologie Biologique, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Pierre-Bénite, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Université de Lyon, Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff8">Centre de Recherche en Cancérologie de Lyon, Lyon, France</nlm:aff></affiliation></author><author><name sortKey="Lombard, Christine" sort="Lombard, Christine" uniqKey="Lombard C" first="Christine" last="Lombard">Christine Lombard</name><affiliation><nlm:aff id="aff2">Service d'Immunologie Biologique, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Pierre-Bénite, France</nlm:aff></affiliation></author><author><name sortKey="Dubos, Francois" sort="Dubos, Francois" uniqKey="Dubos F" first="Francois" last="Dubos">Francois Dubos</name><affiliation><nlm:aff id="aff1">Univ Lille, CHU Lille, Urgences Pédiatriques Maladies Infectieuses et Rhumatologie Pédiatrique, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Reumaux, Heloise" sort="Reumaux, Heloise" uniqKey="Reumaux H" first="Héloise" last="Reumaux">Héloise Reumaux</name><affiliation><nlm:aff id="aff1">Univ Lille, CHU Lille, Urgences Pédiatriques Maladies Infectieuses et Rhumatologie Pédiatrique, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Gnemmi, Viviane" sort="Gnemmi, Viviane" uniqKey="Gnemmi V" first="Viviane" last="Gnemmi">Viviane Gnemmi</name><affiliation><nlm:aff id="aff9">Univ Lille, Inserm UMR-S 1172, CHU Lille, Institut de Pathologie, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Legendre, Marie" sort="Legendre, Marie" uniqKey="Legendre M" first="Marie" last="Legendre">Marie Legendre</name><affiliation><nlm:aff id="aff10">Sorbonne Université, Assistance Publique Hôpitaux de Paris, Département de Génétique Médicale, U.F. de Génétique Moléculaire, Hôpital Armand Trousseau, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name><affiliation><nlm:aff id="aff7">Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff12">Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK</nlm:aff></affiliation></author><author><name sortKey="Thumerelle, Caroline" sort="Thumerelle, Caroline" uniqKey="Thumerelle C" first="Caroline" last="Thumerelle">Caroline Thumerelle</name><affiliation><nlm:aff id="aff13">CHU Lille, Service de Pneumologie Pédiatrique, Hopital Jeanne de Flandre, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Belot, Alexandre" sort="Belot, Alexandre" uniqKey="Belot A" first="Alexandre" last="Belot">Alexandre Belot</name><affiliation><nlm:aff id="aff3">Université de Lyon, Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Hospices Civils de Lyon, Paediatric Nephrology, Rheumatology, Dermatology Unit, National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases (RAISE), Mother and Children University Hospital, Bron, France</nlm:aff></affiliation></author></analytic><series><title level="j">Kidney International Reports</title><idno type="eISSN">2468-0249</idno><imprint><date when="2019">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Hildebrandt, F" uniqKey="Hildebrandt F">F. Hildebrandt</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Belot, A" uniqKey="Belot A">A. Belot</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Watkin, L B" uniqKey="Watkin L">L.B. Watkin</name></author><author><name sortKey="Jessen, B" uniqKey="Jessen B">B. Jessen</name></author><author><name sortKey="Wiszniewski, W" uniqKey="Wiszniewski W">W. Wiszniewski</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Vece, T J" uniqKey="Vece T">T.J. Vece</name></author><author><name sortKey="Watkin, L B" uniqKey="Watkin L">L.B. Watkin</name></author><author><name sortKey="Nicholas, S" uniqKey="Nicholas S">S. Nicholas</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Volpi, S" uniqKey="Volpi S">S. Volpi</name></author><author><name sortKey="Tsui, J" uniqKey="Tsui J">J. Tsui</name></author><author><name sortKey="Mariani, M" uniqKey="Mariani M">M. Mariani</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></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Kidney Int Rep</journal-id><journal-id journal-id-type="iso-abbrev">Kidney Int Rep</journal-id><journal-title-group><journal-title>Kidney International Reports</journal-title></journal-title-group><issn pub-type="epub">2468-0249</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">31440710</article-id><article-id pub-id-type="pmc">6698288</article-id><article-id pub-id-type="publisher-id">S2468-0249(19)30161-5</article-id><article-id pub-id-type="doi">10.1016/j.ekir.2019.04.014</article-id><article-categories><subj-group subj-group-type="heading"><subject>Nephrology Round</subject></subj-group></article-categories><title-group><article-title>COPA Syndrome as a Cause of Lupus Nephritis</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Boulisfane-El Khalifi</surname><given-names>Siham</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Viel</surname><given-names>Sebastien</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Lahoche</surname><given-names>Annie</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Frémond</surname><given-names>Marie-Louise</given-names></name><xref rid="aff6" ref-type="aff">6</xref><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Lopez</surname><given-names>Jonathan</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Lombard</surname><given-names>Christine</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Dubos</surname><given-names>Francois</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Reumaux</surname><given-names>Héloise</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Gnemmi</surname><given-names>Viviane</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Legendre</surname><given-names>Marie</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Crow</surname><given-names>Yanick J.</given-names></name><xref rid="aff7" ref-type="aff">7</xref><xref rid="aff11" ref-type="aff">11</xref><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Thumerelle</surname><given-names>Caroline</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Belot</surname><given-names>Alexandre</given-names></name><email>alexandre.belot@chu-lyon.fr</email><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff14" ref-type="aff">14</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Univ Lille, CHU Lille, Urgences Pédiatriques Maladies Infectieuses et Rhumatologie Pédiatrique, Lille, France</aff><aff id="aff2"><label>2</label>Service d'Immunologie Biologique, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Pierre-Bénite, France</aff><aff id="aff3"><label>3</label>Université de Lyon, Lyon, France</aff><aff id="aff4"><label>4</label>Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France</aff><aff id="aff5"><label>5</label>Service de Néphrologie Pédiatrique, Hopital Jeanne de Flandres, Lille, France</aff><aff id="aff6"><label>6</label>Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital-APHP, Paris, France</aff><aff id="aff7"><label>7</label>Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France</aff><aff id="aff8"><label>8</label>Centre de Recherche en Cancérologie de Lyon, Lyon, France</aff><aff id="aff9"><label>9</label>Univ Lille, Inserm UMR-S 1172, CHU Lille, Institut de Pathologie, Lille, France</aff><aff id="aff10"><label>10</label>Sorbonne Université, Assistance Publique Hôpitaux de Paris, Département de Génétique Médicale, U.F. de Génétique Moléculaire, Hôpital Armand Trousseau, Paris, France</aff><aff id="aff11"><label>11</label>Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France</aff><aff id="aff12"><label>12</label>Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK</aff><aff id="aff13"><label>13</label>CHU Lille, Service de Pneumologie Pédiatrique, Hopital Jeanne de Flandre, Lille, France</aff><aff id="aff14"><label>14</label>Hospices Civils de Lyon, Paediatric Nephrology, Rheumatology, Dermatology Unit, National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases (RAISE), Mother and Children University Hospital, Bron, France</aff><author-notes><corresp id="cor1"><label>∗</label><bold>Correspondence:</bold> Alexandre Belot, Université de Lyon, INSERM U1111, CIRI Lyon 69361, France. <email>alexandre.belot@chu-lyon.fr</email></corresp></author-notes><pub-date pub-type="pmc-release"><day>28</day><month>4</month><year>2019</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on .</pmc-comment>
<pub-date pub-type="collection"><month>8</month><year>2019</year></pub-date><pub-date pub-type="epub"><day>28</day><month>4</month><year>2019</year></pub-date><volume>4</volume><issue>8</issue><fpage>1187</fpage><lpage>1189</lpage><history><date date-type="received"><day>17</day><month>2</month><year>2019</year></date><date date-type="rev-recd"><day>7</day><month>4</month><year>2019</year></date><date date-type="accepted"><day>15</day><month>4</month><year>2019</year></date></history><permissions><copyright-statement>© 2019 International Society of Nephrology. Published by Elsevier Inc.</copyright-statement><copyright-year>2019</copyright-year><copyright-holder>International Society of Nephrology</copyright-holder><license license-type="CC BY-NC-ND" xlink:href="http://creativecommons.org/licenses/by-nc-nd/4.0/"><license-p>This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).</license-p></license></permissions></article-meta></front><body><sec id="sec1"><title>Introduction</title><p id="p0010">Genetic kidney diseases are rare situations resulting from mutations in genes expressed in major structures of the kidney, including podocytes, tubular cells, and basement membrane.<xref rid="bib1" ref-type="bibr"><sup>1</sup></xref> More recently, a new field of monogenic inflammatory diseases has been identified<xref rid="bib2" ref-type="bibr"><sup>2</sup></xref>; these immune-mediated diseases can affect all organs, including the kidney. Here we report on a young girl diagnosed with lupus nephritis and carrying a mutation in the <italic>COPA</italic> gene encoding for coatomer protein complex subunit alpha.</p></sec><sec id="sec2"><title>Case Presentation</title><p id="p0015">A 10-year-old girl was referred because of fever, facial edema, and fatigue. Upon admission, her blood pressure was 117/70 mm Hg and her temperature was 39 °C. Clinical examination revealed facial edema. Her medical history was unremarkable. Two other second-degree relatives were suspected of having systemic vasculitis because of lung hemorrhage and antineutrophil cytoplasmic antibody positivity. Initial laboratory testing performed at the emergency department revealed acute renal failure with increased serum creatinine at 106 μmol/L, a urinary protein-to-creatinine ratio of 1.76 g/g, and microscopic hematuria with >1×10<sup>6</sup> red blood cells/ml. C-reactive protein was 3 mg/l, and the erythrocyte sedimentation rate was 52 mm. The hemoglobin level was 9 g/dl. Tests for antinuclear antibodies, antineutrophil cytoplasmic antibody, and antiglomerular basement membrane were negative, and C3 and C4 complement levels were 1.23 g/l and 0.39 g/l, respectively. Infectious screening was normal, and a kidney biopsy was performed. Light microscopy and immunofluorescence studies were consistent with lupus nephritis (<xref rid="fig1" ref-type="fig">Figure 1</xref>). Treatment of putative lupus nephritis was started with a steroid pulse, i.v. cyclophosphamide, and hydroxychloroquine. Proteinuria persisted in the following months and angiotensin-converting enzyme inhibitors were introduced, but the disease was progressive.<fig id="fig1"><label>Figure 1</label><caption><p>Kidney biopsy specimen of patient 1 (case index). (a) Proliferative lesions associated with focal and segmental glomerulosclerosis. (b) Immunofluorescence study revealed endomembranous deposits of C1q, C3, IgM, and IgG (bar = 50 µm).</p></caption><graphic xlink:href="gr1"></graphic></fig></p><p id="p0020">Transient arthralgia of the knee was later reported without joint lesions or synovitis. Two additional biopsies were performed and showed the same immunopathologic pattern with progression of chronic lesions. Mycophenolate mofetil was introduced but without significant impact on the chronic course of the disease and she developed end-stage renal failure. While living donor transplantation was being considered, exploration in the father, age 50 years, revealed chronic proteinuria. A kidney biopsy revealed membranous glomerulonephritis. Meanwhile, the 2 second-degree relatives were diagnosed with COPA syndrome, a monogenic disease presenting as antineutrophil cytoplasmic antibody–associated vasculitis. The patient and her father then underwent screening for COPA mutation, and they both carried the familial mutation. Diagnosis of COPA syndrome was made.</p></sec><sec id="sec3"><title>Discussion</title><p id="p0025">COPA syndrome represents a newly recognized autosomal-dominant cause of autoinflammatory/autoimmune disease characterized by variable expression and a high frequency of clinical nonpenetrance. Arthritis, interstitial lung disease, and glomerulonephritis represent the main characteristic features.<xref rid="bib3" ref-type="bibr"><sup>3</sup></xref> The COPA syndrome occurs as a result of a heterozygous mutation in the <italic>COPA</italic> gene encoding for the alpha subunit of the COPI coatomer protein complex. The COPI protein complex is involved in the trafficking of membranes containing proteins and lipids from the Golgi to the endoplasmic reticulum.<xref rid="bib4" ref-type="bibr"><sup>4</sup></xref> To date, the link between intracellular trafficking and immune dysregulation has not been characterized, but endoplasmic reticulum stress and the activation of the unfolded protein response have been evocated.<xref rid="bib4" ref-type="bibr"><sup>4</sup></xref> Here, the family history was informative (<xref rid="fig2" ref-type="fig">Figure 2</xref>a). Despite the absence of symptoms in the siblings of the father, a phenotypic link between the cousins, the father, and index case was suspected, and genetic screening for the known familial <italic>COPA</italic> mutation confirmed that both the father and the index case were heterozygous for the same amino acid substitution (p.Arg233His), a mutation already described as causal in 2 families.<xref rid="bib3" ref-type="bibr"><sup>3</sup></xref> The family tree in this pedigree illustrates the variable expression and incomplete penetrance of COPA syndrome, suggesting that additional environmental or genetic modifiers might influence the phenotype. To date, 31 cases of COPA syndrome have been reported, 14 of which presented with renal lesions; the main histologic features are crescentic glomerulonephritis and focal mesangial hypercellularity with immune complex deposits, ranging from isolated IgA deposits to “full-house” immunofluorescence (IgM, IgG, and C1q deposits).<fig id="fig2"><label>Figure 2</label><caption><p>Genetic and immunologic description. (a) Family tree of the index case (III.9) with mutation segregation and clinical features. (b) Type I interferon (IFN) assessment in whole blood of members of the family. The IFN signature was increased in all symptomatic patients carrying the familial mutation.</p></caption><graphic xlink:href="gr2"></graphic></fig></p><p id="p0030">The patient benefited from a live-donor transplantation from her mother, and renal function was satisfactory 3 months after transplantation. Remarkably, patient IV.2 displayed a positive response to rituximab, suggesting a possible contribution of B cells to some aspect of the disease.</p><p id="p0035">Underlying pathogenesis of COPA syndrome is still unknown, but a positive type I interferon signature has been identified in some patients with COPA syndrome.<xref rid="bib5" ref-type="bibr"><sup>5</sup></xref> We also explored type I interferon signaling in the peripheral blood of different members of the family and identified a positive transcriptomic signature in all symptomatic individuals tested (<xref rid="fig2" ref-type="fig">Figure 2</xref>b). Of note, type I interferon is a key cytokine in systemic lupus erythematosus. Taken together, a history of arthritis, interstitial lung disease, and immune-mediated glomerulonephritis with dominant inheritance is evocative of COPA syndrome (<xref rid="tbl1" ref-type="table">Table 1</xref>). Type I interferon assessment might represent an additional biologic marker of this syndrome and an explanatory factor for the overlapping features of COPA syndrome with both lupus renal immunopathology and the phenotype associated with gain-of-function of the gene-encoding Stimulator of Interferon Genes (<italic>STING</italic>).<xref rid="bib6" ref-type="bibr"><sup>6</sup></xref> Thus Janus kinase inhibitors or type I interferon inhibition may represent promising therapies in this context.<table-wrap position="float" id="tbl1"><label>Table 1</label><caption><p>Teaching points</p></caption><table frame="hsides" rules="groups"><tbody><tr><td>COPA syndrome is an inherited disease presenting with systemic autoimmunity from antineutrophil cytoplasmic antibody vasculitis to lupus phenotype</td></tr><tr><td>Expressivity and penetrance are variable in a single family</td></tr><tr><td>Type I interferon is increased in symptomatic patients and may play a role in the pathogenesis of the disease</td></tr></tbody></table><table-wrap-foot><fn><p>COPA, coatomer protein.</p></fn></table-wrap-foot></table-wrap></p></sec><sec id="sec4"><title>Disclosure</title><p id="p0040">All the authors declared no competing interests.</p></sec></body><back><ref-list id="cebib0010"><title>References</title><ref id="bib1"><label>1</label><element-citation publication-type="journal" id="sref1"><person-group person-group-type="author"><name><surname>Hildebrandt</surname><given-names>F.</given-names></name></person-group><article-title>Genetic kidney diseases</article-title><source>Lancet</source><volume>375</volume><year>2010</year><fpage>1287</fpage><lpage>1295</lpage><pub-id pub-id-type="pmid">20382325</pub-id></element-citation></ref><ref id="bib2"><label>2</label><element-citation publication-type="journal" id="sref2"><person-group person-group-type="author"><name><surname>Belot</surname><given-names>A.</given-names></name></person-group><article-title>Are all pediatric-onset inflammatory diseases genetically driven? 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