1 Ocak 2015 Dergi makalesi Açık Erişim

Charbonnier, Louis-Marie; Janssen, Erin; Chou, Janet; Ohsumi, Toshiro K.; Keles, Sevgi; Hsu, Joyce T.; Massaad, Michel J.; Garcia-Lloret, Maria; Hanna-Wakim, Rima; Dbaibo, Ghassan; Alangari, Abdullah A.; Alsultan, Abdulrahman; Al-Zahrani, Daifulah; Geha, Raif S.; Chatila, Talal A.

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/76453</identifier>
  <creators>
    <creator>
      <creatorName>Charbonnier, Louis-Marie</creatorName>
      <givenName>Louis-Marie</givenName>
      <familyName>Charbonnier</familyName>
    </creator>
    <creator>
      <creatorName>Janssen, Erin</creatorName>
      <givenName>Erin</givenName>
      <familyName>Janssen</familyName>
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    <creator>
      <creatorName>Chou, Janet</creatorName>
      <givenName>Janet</givenName>
      <familyName>Chou</familyName>
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    <creator>
      <creatorName>Ohsumi, Toshiro K.</creatorName>
      <givenName>Toshiro K.</givenName>
      <familyName>Ohsumi</familyName>
      <affiliation>Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Keles, Sevgi</creatorName>
      <givenName>Sevgi</givenName>
      <familyName>Keles</familyName>
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    <creator>
      <creatorName>Hsu, Joyce T.</creatorName>
      <givenName>Joyce T.</givenName>
      <familyName>Hsu</familyName>
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    <creator>
      <creatorName>Massaad, Michel J.</creatorName>
      <givenName>Michel J.</givenName>
      <familyName>Massaad</familyName>
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    <creator>
      <creatorName>Garcia-Lloret, Maria</creatorName>
      <givenName>Maria</givenName>
      <familyName>Garcia-Lloret</familyName>
      <affiliation>Univ Calif Los Angeles, Dept Pediat, Div Immunol, Los Angeles, CA 90024 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Hanna-Wakim, Rima</creatorName>
      <givenName>Rima</givenName>
      <familyName>Hanna-Wakim</familyName>
      <affiliation>Amer Univ Beirut, Div Pediat Infect Dis, Beirut, Lebanon</affiliation>
    </creator>
    <creator>
      <creatorName>Dbaibo, Ghassan</creatorName>
      <givenName>Ghassan</givenName>
      <familyName>Dbaibo</familyName>
      <affiliation>Amer Univ Beirut, Div Pediat Infect Dis, Beirut, Lebanon</affiliation>
    </creator>
    <creator>
      <creatorName>Alangari, Abdullah A.</creatorName>
      <givenName>Abdullah A.</givenName>
      <familyName>Alangari</familyName>
      <affiliation>King Saud Univ, Coll Med, Dept Pediat, Riyadh 11461, Saudi Arabia</affiliation>
    </creator>
    <creator>
      <creatorName>Alsultan, Abdulrahman</creatorName>
      <givenName>Abdulrahman</givenName>
      <familyName>Alsultan</familyName>
      <affiliation>King Saud Univ, Coll Med, Dept Pediat, Riyadh 11461, Saudi Arabia</affiliation>
    </creator>
    <creator>
      <creatorName>Al-Zahrani, Daifulah</creatorName>
      <givenName>Daifulah</givenName>
      <familyName>Al-Zahrani</familyName>
      <affiliation>King Abdul Aziz Med City, Immunol &amp; Allergy Pediat Dept, Jeddah, Saudi Arabia</affiliation>
    </creator>
    <creator>
      <creatorName>Geha, Raif S.</creatorName>
      <givenName>Raif S.</givenName>
      <familyName>Geha</familyName>
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    <creator>
      <creatorName>Chatila, Talal A.</creatorName>
      <givenName>Talal A.</givenName>
      <familyName>Chatila</familyName>
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  <titles>
    <title>Regulatory T-Cell Deficiency And Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked-Like Disorder Caused By Loss-Of-Function Mutations In Lrba</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2015</publicationYear>
  <dates>
    <date dateType="Issued">2015-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/76453</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1016/j.jaci.2014.10.019</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">Background: A number of heritable immune dysregulatory diseases result from defects affecting regulatory T (Treg) cell development, function, or both. They include immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, which is caused by mutations in forkhead box P3 (FOXP3), and IPEX-like disorders caused by mutations in IL-2 receptor a (IL2RA), signal transducer and activator of transcription 5b (STAT5b), and signal transducer and activator of transcription 1 (STAT1). However, the genetic defects underlying many cases of IPEX-like disorders remain unknown.</description>
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