Identification of novel differentiation factors in immune system using iPS cells derived from primary immunodeficiencies.

2016 Fiscal Year Final Research Report

• Project/Area Number: 26293250
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: National Defense Medical College
• Principal Investigator: NONOYAMA Shigeaki 防衛医科大学校(医学教育部医学科進学課程及び専門課程、動物実験施設、共同利用研究, その他部局等, 教授 (40280961)
• Co-Investigator(Kenkyū-buntansha): 今井 耕輔 東京医科歯科大学, 医歯(薬)学総合研究科, 准教授 (90332626)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 免疫学 / 発生・分化 / 移植・再生医療 / 細胞・組織 / 遺伝子

Outline of Final Research Achievements

iPS cells derived from patients with primary immunodeficiencies were established including GATA 2 deficiency, Wiskott-Aldrich syndrome, Chediak-Higashi syndrome, and Reticular Dysgenesis. Differentiation defects of iPS cells derived from the diseases were examined using an in vitro differentiation system. It was found that GATA 2 deficiency has impaired differentiation into hematopoietic progenitor cells, Wiskott-Aldrich syndrome has impaired differentiation into platelets, and Reticular Dysgenesis has impaired metabolism in hematopoietic progenitor cells. The causative gene mutations were corrected in iPS cells by genome editing, and RNA sequence was performed during differentiation process. A group of genes differently expressed were found. This result gives important clues for identification of differentiation factors.

Free Research Field

免疫学