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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{
  "@context": "https://schema.org/", 
  "@id": 76453, 
  "@type": "ScholarlyArticle", 
  "creator": [
    {
      "@type": "Person", 
      "name": "Charbonnier, Louis-Marie"
    }, 
    {
      "@type": "Person", 
      "name": "Janssen, Erin"
    }, 
    {
      "@type": "Person", 
      "name": "Chou, Janet"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA", 
      "name": "Ohsumi, Toshiro K."
    }, 
    {
      "@type": "Person", 
      "name": "Keles, Sevgi"
    }, 
    {
      "@type": "Person", 
      "name": "Hsu, Joyce T."
    }, 
    {
      "@type": "Person", 
      "name": "Massaad, Michel J."
    }, 
    {
      "@type": "Person", 
      "affiliation": "Univ Calif Los Angeles, Dept Pediat, Div Immunol, Los Angeles, CA 90024 USA", 
      "name": "Garcia-Lloret, Maria"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Amer Univ Beirut, Div Pediat Infect Dis, Beirut, Lebanon", 
      "name": "Hanna-Wakim, Rima"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Amer Univ Beirut, Div Pediat Infect Dis, Beirut, Lebanon", 
      "name": "Dbaibo, Ghassan"
    }, 
    {
      "@type": "Person", 
      "affiliation": "King Saud Univ, Coll Med, Dept Pediat, Riyadh 11461, Saudi Arabia", 
      "name": "Alangari, Abdullah A."
    }, 
    {
      "@type": "Person", 
      "affiliation": "King Saud Univ, Coll Med, Dept Pediat, Riyadh 11461, Saudi Arabia", 
      "name": "Alsultan, Abdulrahman"
    }, 
    {
      "@type": "Person", 
      "affiliation": "King Abdul Aziz Med City, Immunol & Allergy Pediat Dept, Jeddah, Saudi Arabia", 
      "name": "Al-Zahrani, Daifulah"
    }, 
    {
      "@type": "Person", 
      "name": "Geha, Raif S."
    }, 
    {
      "@type": "Person", 
      "name": "Chatila, Talal A."
    }
  ], 
  "datePublished": "2015-01-01", 
  "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.", 
  "headline": "Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA", 
  "identifier": 76453, 
  "image": "https://aperta.ulakbim.gov.tr/static/img/logo/aperta_logo_with_icon.svg", 
  "license": "http://www.opendefinition.org/licenses/cc-by", 
  "name": "Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA", 
  "url": "https://aperta.ulakbim.gov.tr/record/76453"
}