Establishing the research basis for innovative medical care of familial hemophagocytic lymphohistiocytosis.

2015 Fiscal Year Final Research Report

• Project/Area Number: 25670475
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Kyoto University
• Principal Investigator: HEIKE Toshio 京都大学, 医学(系)研究科(研究院), 教授 (90190173)
• 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)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 血球貪食性リンパ組織球症 / 免疫調節異常症 / 機能解析

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.

Free Research Field

小児免疫・アレルギー学