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Genetics of immunodefient syndrome to elucidate the human immune system

Research Project

Project/Area Number 26253063
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionThe University of Tokushima

Principal Investigator

YASUTOMO Koji  徳島大学, 大学院医歯薬学研究部(医学系), 教授 (30333511)

Project Period (FY) 2014-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥41,080,000 (Direct Cost: ¥31,600,000、Indirect Cost: ¥9,480,000)
Fiscal Year 2016: ¥15,210,000 (Direct Cost: ¥11,700,000、Indirect Cost: ¥3,510,000)
Fiscal Year 2015: ¥15,210,000 (Direct Cost: ¥11,700,000、Indirect Cost: ¥3,510,000)
Fiscal Year 2014: ¥10,660,000 (Direct Cost: ¥8,200,000、Indirect Cost: ¥2,460,000)
Keywords免疫不全 / 遺伝解析 / 細菌感染 / ゲノム解析 / T細胞 / B細胞 / 遺伝子改変マウス / ウイルス感染 / エクソーム解析
Outline of Final Research Achievements

In this study, we aim to elucidate the molecular basis of immune-mediated disorders and have evaluated the genetic basis of inherited immunodeficient patients by using linkage study, homozygosity mapping and exome resequencing. We succeeded to identify the causative genes of two types of immunodeficiency syndrome and established mice that have same mutations to human patients.We identified the causative mutation in selective immunodeficient syndrome and established the knock-in mice. The knock-in mice showed similar defect in the protection against staphylococcus aureus. We are now assessing the molecular mechanism of this defect by using this knock-in mice.

Report

(4 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Annual Research Report
  • 2014 Annual Research Report
  • Research Products

    (1 results)

All 2015

All Journal Article (1 results) (of which Peer Reviewed: 1 results)

  • [Journal Article] Notch controls the persistence of autoimmune memory CD4+ T cells by maintaining glucose uptake.2015

    • Author(s)
      Maekawa Y, Ishifune C, Tsukumo S, Hozumi K, Yagita H, Yasutomo K.
    • Journal Title

      Nature Medicine

      Volume: 21 Issue: 1 Pages: 55-61

    • DOI

      10.1038/nm.3758

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed

URL: 

Published: 2014-04-04   Modified: 2018-03-22  

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