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.

Citation Style Language JSON

{
  "DOI": "10.1016/j.jaci.2014.10.019", 
  "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.", 
  "author": [
    {
      "family": "Charbonnier", 
      "given": " Louis-Marie"
    }, 
    {
      "family": "Janssen", 
      "given": " Erin"
    }, 
    {
      "family": "Chou", 
      "given": " Janet"
    }, 
    {
      "family": "Ohsumi", 
      "given": " Toshiro K."
    }, 
    {
      "family": "Keles", 
      "given": " Sevgi"
    }, 
    {
      "family": "Hsu", 
      "given": " Joyce T."
    }, 
    {
      "family": "Massaad", 
      "given": " Michel J."
    }, 
    {
      "family": "Garcia-Lloret", 
      "given": " Maria"
    }, 
    {
      "family": "Hanna-Wakim", 
      "given": " Rima"
    }, 
    {
      "family": "Dbaibo", 
      "given": " Ghassan"
    }, 
    {
      "family": "Alangari", 
      "given": " Abdullah A."
    }, 
    {
      "family": "Alsultan", 
      "given": " Abdulrahman"
    }, 
    {
      "family": "Al-Zahrani", 
      "given": " Daifulah"
    }, 
    {
      "family": "Geha", 
      "given": " Raif S."
    }, 
    {
      "family": "Chatila", 
      "given": " Talal A."
    }
  ], 
  "container_title": "JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY", 
  "id": "76453", 
  "issue": "1", 
  "issued": {
    "date-parts": [
      [
        2015, 
        1, 
        1
      ]
    ]
  }, 
  "page": "217-U336", 
  "title": "Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA", 
  "type": "article-journal", 
  "volume": "135"
}