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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic lessons learnt from X-linked Mendelian susceptibility to mycobacterial diseases</title>
<author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name>
<affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Paris Descartes University, Necker Medical School, Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
<affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Paris Descartes University, Necker Medical School, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A3">Study Center of Primary Immunodeficiencies, Necker Hospital, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A4">Pediatric Hematology-Immunology Unit, Necker Hospital, Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stéphanie" last="Boisson-Dupuis">Stéphanie Boisson-Dupuis</name>
<affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Paris Descartes University, Necker Medical School, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A5">St. Giles laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name>
<affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Paris Descartes University, Necker Medical School, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A5">St. Giles laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Paris Descartes University, Necker Medical School, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A4">Pediatric Hematology-Immunology Unit, Necker Hospital, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A5">St. Giles laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">22236433</idno>
<idno type="pmc">3315101</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315101</idno>
<idno type="RBID">PMC:3315101</idno>
<idno type="doi">10.1111/j.1749-6632.2011.06273.x</idno>
<date when="2011">2011</date>
<idno type="wicri:Area/Pmc/Corpus">002A02</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002A02</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic lessons learnt from X-linked Mendelian susceptibility to mycobacterial diseases</title>
<author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name>
<affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Paris Descartes University, Necker Medical School, Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name>
<affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Paris Descartes University, Necker Medical School, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A3">Study Center of Primary Immunodeficiencies, Necker Hospital, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A4">Pediatric Hematology-Immunology Unit, Necker Hospital, Paris, France</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stéphanie" last="Boisson-Dupuis">Stéphanie Boisson-Dupuis</name>
<affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Paris Descartes University, Necker Medical School, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A5">St. Giles laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name>
<affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Paris Descartes University, Necker Medical School, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A5">St. Giles laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<affiliation><nlm:aff id="A1">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A2">Paris Descartes University, Necker Medical School, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A4">Pediatric Hematology-Immunology Unit, Necker Hospital, Paris, France</nlm:aff>
</affiliation>
<affiliation><nlm:aff id="A5">St. Giles laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">Annals of the New York Academy of Sciences</title>
<idno type="ISSN">0077-8923</idno>
<idno type="eISSN">1749-6632</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent mycobacteria, such as <italic>Mycobacterium bovis</italic>
Bacille Calmette Guérin (BCG) vaccines and nontuberculous, environmental mycobacteria (EM). Since 1996, MSMD-causing mutations have been found in six autosomal genes involved in IL-12/23-dependent, IFN-γ-mediated immunity. The aim of this review is to provide the description of the two described forms of X-linked recessive (XR) MSMD. Germline mutations in two genes, <italic>NEMO</italic>
and <italic>CYBB,</italic>
have long been known to cause other human diseases—incontinentia pigmenti (IP) and anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (<italic>NEMO/IKKG</italic>
), and X-linked chronic granulomatous disease (CGD) (<italic>CYBB</italic>
)—but specific mutations in either of these two genes have recently been shown to cause XR-MSMD. NEMO is an essential component of several NF-κB-dependent signaling pathways. The MSMD-causing mutations in <italic>NEMO</italic>
selectively affect the CD40-dependent induction of IL-12 in mononuclear cells. <italic>CYBB</italic>
encoded for gp91<italic><sup>phox</sup>
</italic>
, which is an essential component of the NADPH oxidase in phagocytes. The MSMD-causing mutation in <italic>CYBB</italic>
selectively affects the respiratory burst in macrophages. Mutations in <italic>NEMO</italic>
and <italic>CYBB</italic>
may therefore cause MSMD by selectively exerting their deleterious impact on a single signaling pathway (CD40–IL-12, <italic>NEMO</italic>
) or a single cell type (macrophages, <italic>CYBB</italic>
). These experiments illustrate how specific germline mutations in pleiotropic genes can dissociate signalling pathways or cell lineages, thereby resulting in surprisingly narrow clinical phenotypes.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article" xml:lang="en"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">7506858</journal-id>
<journal-id journal-id-type="pubmed-jr-id">611</journal-id>
<journal-id journal-id-type="nlm-ta">Ann N Y Acad Sci</journal-id>
<journal-id journal-id-type="iso-abbrev">Ann. N. Y. Acad. Sci.</journal-id>
<journal-title-group><journal-title>Annals of the New York Academy of Sciences</journal-title>
</journal-title-group>
<issn pub-type="ppub">0077-8923</issn>
<issn pub-type="epub">1749-6632</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">22236433</article-id>
<article-id pub-id-type="pmc">3315101</article-id>
<article-id pub-id-type="doi">10.1111/j.1749-6632.2011.06273.x</article-id>
<article-id pub-id-type="manuscript">NIHMS364243</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Genetic lessons learnt from X-linked Mendelian susceptibility to mycobacterial diseases</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Bustamante</surname>
<given-names>Jacinta</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Picard</surname>
<given-names>Capucine</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A2" ref-type="aff">2</xref>
<xref rid="A3" ref-type="aff">3</xref>
<xref rid="A4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Boisson-Dupuis</surname>
<given-names>Stéphanie</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A2" ref-type="aff">2</xref>
<xref rid="A5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Abel</surname>
<given-names>Laurent</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A2" ref-type="aff">2</xref>
<xref rid="A5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Casanova</surname>
<given-names>Jean-Laurent</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A2" ref-type="aff">2</xref>
<xref rid="A4" ref-type="aff">4</xref>
<xref rid="A5" ref-type="aff">5</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France</aff>
<aff id="A2"><label>2</label>
Paris Descartes University, Necker Medical School, Paris, France</aff>
<aff id="A3"><label>3</label>
Study Center of Primary Immunodeficiencies, Necker Hospital, Paris, France</aff>
<aff id="A4"><label>4</label>
Pediatric Hematology-Immunology Unit, Necker Hospital, Paris, France</aff>
<aff id="A5"><label>5</label>
St. Giles laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York</aff>
<author-notes><corresp id="FN1">Correspondence: Jacinta Bustamante MD, PhD, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Paris Descartes University, Necker Medical School, Paris, France 75015, <email>jacinta.bustamante@inserm.fr</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>16</day>
<month>3</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="ppub"><month>12</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>1</day>
<month>12</month>
<year>2012</year>
</pub-date>
<volume>1246</volume>
<fpage>92</fpage>
<lpage>101</lpage>
<abstract><p id="P1">Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent mycobacteria, such as <italic>Mycobacterium bovis</italic>
Bacille Calmette Guérin (BCG) vaccines and nontuberculous, environmental mycobacteria (EM). Since 1996, MSMD-causing mutations have been found in six autosomal genes involved in IL-12/23-dependent, IFN-γ-mediated immunity. The aim of this review is to provide the description of the two described forms of X-linked recessive (XR) MSMD. Germline mutations in two genes, <italic>NEMO</italic>
and <italic>CYBB,</italic>
have long been known to cause other human diseases—incontinentia pigmenti (IP) and anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (<italic>NEMO/IKKG</italic>
), and X-linked chronic granulomatous disease (CGD) (<italic>CYBB</italic>
)—but specific mutations in either of these two genes have recently been shown to cause XR-MSMD. NEMO is an essential component of several NF-κB-dependent signaling pathways. The MSMD-causing mutations in <italic>NEMO</italic>
selectively affect the CD40-dependent induction of IL-12 in mononuclear cells. <italic>CYBB</italic>
encoded for gp91<italic><sup>phox</sup>
</italic>
, which is an essential component of the NADPH oxidase in phagocytes. The MSMD-causing mutation in <italic>CYBB</italic>
selectively affects the respiratory burst in macrophages. Mutations in <italic>NEMO</italic>
and <italic>CYBB</italic>
may therefore cause MSMD by selectively exerting their deleterious impact on a single signaling pathway (CD40–IL-12, <italic>NEMO</italic>
) or a single cell type (macrophages, <italic>CYBB</italic>
). These experiments illustrate how specific germline mutations in pleiotropic genes can dissociate signalling pathways or cell lineages, thereby resulting in surprisingly narrow clinical phenotypes.</p>
</abstract>
<kwd-group><kwd>Mycobacteria</kwd>
<kwd>X-linked primary immunodeficiency</kwd>
<kwd><italic>NEMO</italic>
</kwd>
<kwd><italic>CYBB</italic>
</kwd>
<kwd>interleukin-12</kwd>
<kwd>interferon-γ</kwd>
<kwd>monocytes</kwd>
<kwd>macrophages</kwd>
</kwd-group>
<funding-group><award-group><funding-source country="United States">National Center for Research Resources : NCRR</funding-source>
<award-id>UL1 RR024143-05 || RR</award-id>
</award-group>
<award-group><funding-source country="United States">National Institute of Allergy and Infectious Diseases Extramural Activities : NIAID</funding-source>
<award-id>R37 AI095983-01 || AI</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
</record>
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