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 Type	Single-year Grants
Section	一般
Research Field	Pediatrics
Research Institution	The 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.