Genetics of immunodefient syndrome to elucidate the human immune system

2016 Fiscal Year Final Research Report

• 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
• Keywords: 免疫不全 / 遺伝解析 / 細菌感染

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.

Free Research Field

免疫学