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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA

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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  <dc:creator>Charbonnier, Louis-Marie</dc:creator>
  <dc:creator>Janssen, Erin</dc:creator>
  <dc:creator>Chou, Janet</dc:creator>
  <dc:creator>Ohsumi, Toshiro K.</dc:creator>
  <dc:creator>Keles, Sevgi</dc:creator>
  <dc:creator>Hsu, Joyce T.</dc:creator>
  <dc:creator>Massaad, Michel J.</dc:creator>
  <dc:creator>Garcia-Lloret, Maria</dc:creator>
  <dc:creator>Hanna-Wakim, Rima</dc:creator>
  <dc:creator>Dbaibo, Ghassan</dc:creator>
  <dc:creator>Alangari, Abdullah A.</dc:creator>
  <dc:creator>Alsultan, Abdulrahman</dc:creator>
  <dc:creator>Al-Zahrani, Daifulah</dc:creator>
  <dc:creator>Geha, Raif S.</dc:creator>
  <dc:creator>Chatila, Talal A.</dc:creator>
  <dc:date>2015-01-01</dc:date>
  <dc:description>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.</dc:description>
  <dc:identifier>https://aperta.ulakbim.gov.trrecord/76453</dc:identifier>
  <dc:identifier>oai:zenodo.org:76453</dc:identifier>
  <dc:rights>info:eu-repo/semantics/openAccess</dc:rights>
  <dc:rights>http://www.opendefinition.org/licenses/cc-by</dc:rights>
  <dc:source>JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY 135(1) 217-U336</dc:source>
  <dc:title>Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA</dc:title>
  <dc:type>info:eu-repo/semantics/article</dc:type>
  <dc:type>publication-article</dc:type>
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