| Project/Area Number |
25670475
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Kyoto University |
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Principal Investigator |
HEIKE Toshio 京都大学, 医学(系)研究科(研究院), 教授 (90190173)
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| Co-Investigator(Kenkyū-buntansha) |
YASUMI Takahiro 京都大学, 大学院医学研究科発達小児科学, 講師 (00511891)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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| Keywords | 血球貪食性リンパ組織球症 / 免疫調節異常症 / 機能解析 / 創薬基盤開発 / FHL / 血球貪食症候群 / NK細胞 / 細胞障害性T細胞 |
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| Outline of Final Research Achievements |
We established a system to provide comprehensive screening of FHL to all HLH patients by the detection of perforin expression in NK cells; Munc13-4, syntaxin-11, and Munc18-2 expression in platelets; by NK cell and CTL degranulation assays; and by genetic analysis. We compared the levels of serum sIL2R, ferritin, and other readily available laboratory parameters among pediatric HLH patients during the early stage of the disease, and showed that these parameters can be used to predict the underlying etiology and to efficiently identify patients who need molecular screening for FHL.（Yasumi, et al. British J Haematology, 2015）
We also established a system to analyze the cytolytic activity and the degranulation capacity of CTL lines derived from HLH patients. In addition, we have succeeded in evaluating the effect of a UNC13D mutation by transfecting the mutated cDNA construct into CTL lines established from a FHL3 patient.
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