Research of activation mechanism and pathogenicity of CIHHV-6

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K17460
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 54030:Infectious disease medicine-related
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: Endo Akifumi 東京医科歯科大学, 東京医科歯科大学病院, プロジェクト助教 (80624238)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: CIHHV-6 / HHV-6 / immunodeficiency

Outline of Final Research Achievements

In this study, we aimed to elucidate the activation mechanism of CIHHV-6. We collected clinical information and samples from patients with CIHHV-6. We constructed an immunodeficiency registry in Japan, identified CIHHV-6 patients, and collected clinical specimens and clinical information. Also, during the research period, the social impact of COVID-19 was significant, so we cooperated with those studies. In our case of CIHHV-6, activation was observed in an immunodeficient patient with a single-gene IL2RG abnormality, and in order to verify whether the corresponding gene was involved in the activation mechanism, an immortalized cell line was established from the patient's family specimen. We studied the establishment of a system that knocks down IL2RG.But it is difficult to establish the system, and we are examining the conditions.

Free Research Field

pediatrics

Academic Significance and Societal Importance of the Research Achievements

CIHHV-6患者さんを含んだ本邦の免疫不全レジストリを構築することができた。
また研究期間中はCOVID-19の社会的影響が大きかったため、それらの研究へ貢献した。CIHHV-6 症例からもEBVによる不死化細胞株の樹立が確認できた。
しかしノックダウンする系の立ち上げは通常の細胞よりも難しいことが確認された。