LymphedemaV1, Ncbi, Merge, bibRecord, 008999

OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH

Identifieur interne : 008999 ( Ncbi/Merge ); précédent : 008998; suivant : 008A00

OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH

Auteurs : Silvia Ricci [Italie] ; Francesca Romano [Italie] ; Francesco Nieddu [Italie] ; Capucine Picard [États-Unis, France] ; Chiara Azzari [Italie]

Source :

Journal of Clinical Immunology [ 0271-9142 ] ; 2016.

RBID : PMC:5226985
Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5226985

DOI: 10.1007/s10875-016-0350-x
PubMed: 27838798
PubMed Central: 5226985

Links toward previous steps (curation, corpus...)

to stream Pmc, to step Corpus: 000A73
to stream Pmc, to step Curation: 000A72
to stream Pmc, to step Checkpoint: 000741

Links to Exploration step

PMC:5226985

Le document en format XML

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  <front><journal-meta><journal-id journal-id-type="nlm-ta">J Clin Immunol</journal-id>
<journal-id journal-id-type="iso-abbrev">J. Clin. Immunol</journal-id>
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<title-group><article-title>OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">http://orcid.org/0000-0001-7140-1694</contrib-id>
<name><surname>Ricci</surname>
<given-names>Silvia</given-names>
</name>
<address><phone>0039-3285477405</phone>
<phone>0039-0555662940</phone>
<email>slv.ricci@gmail.com</email>
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<xref ref-type="aff" rid="Aff1">1</xref>
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<contrib contrib-type="author"><name><surname>Romano</surname>
<given-names>Francesca</given-names>
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<contrib contrib-type="author"><name><surname>Nieddu</surname>
<given-names>Francesco</given-names>
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<xref ref-type="aff" rid="Aff1">1</xref>
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<contrib contrib-type="author"><name><surname>Picard</surname>
<given-names>Capucine</given-names>
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<xref ref-type="aff" rid="Aff2">2</xref>
<xref ref-type="aff" rid="Aff3">3</xref>
<xref ref-type="aff" rid="Aff4">4</xref>
<xref ref-type="aff" rid="Aff5">5</xref>
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<contrib contrib-type="author"><name><surname>Azzari</surname>
<given-names>Chiara</given-names>
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<aff id="Aff1"><label>1</label>
Department of Pediatric Immunology, Jeffrey Modell Center for Primary Immunodeficiencies, University of Florence and Anna Meyer Children’s University Hospital, viale Pieraccini 24, 50139 Florence, Italy</aff>
<aff id="Aff2"><label>2</label>
St Giles Laboratory of Human Genetics Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 USA</aff>
<aff id="Aff3"><label>3</label>
Laboratory of Human Genetics Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Paris Descartes University, Paris, France</aff>
<aff id="Aff4"><label>4</label>
Pediatric Hematology-Immunology Unit, AP-HO, Necker Hospital for Sick Children, Paris, France</aff>
<aff id="Aff5"><label>5</label>
Center for the Study of Primary Immunodeficiences, AP-HP, Necker Hospital for Sick Children, Paris, France</aff>
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<pub-date pub-type="ppub"><year>2017</year>
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<lpage>11</lpage>
<history><date date-type="received"><day>26</day>
<month>6</month>
<year>2016</year>
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<date date-type="accepted"><day>26</day>
<month>10</month>
<year>2016</year>
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<permissions><copyright-statement>© The Author(s) 2016</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 (http://creativecommons.org/licenses/by/4.0/), 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.</license-p>
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<custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name>
<meta-value>© Springer Science+Business Media New York 2017</meta-value>
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<tree><country name="Italie"><noRegion><name sortKey="Ricci, Silvia" sort="Ricci, Silvia" uniqKey="Ricci S" first="Silvia" last="Ricci">Silvia Ricci</name>
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<name sortKey="Azzari, Chiara" sort="Azzari, Chiara" uniqKey="Azzari C" first="Chiara" last="Azzari">Chiara Azzari</name>
<name sortKey="Nieddu, Francesco" sort="Nieddu, Francesco" uniqKey="Nieddu F" first="Francesco" last="Nieddu">Francesco Nieddu</name>
<name sortKey="Romano, Francesca" sort="Romano, Francesca" uniqKey="Romano F" first="Francesca" last="Romano">Francesca Romano</name>
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<country name="États-Unis"><region name="État de New York"><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
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<country name="France"><region name="Île-de-France"><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
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OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH

OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH

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