| Budget Amount *help |
¥17,290,000 (Direct Cost: ¥13,300,000、Indirect Cost: ¥3,990,000)
Fiscal Year 2018: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2017: ¥5,850,000 (Direct Cost: ¥4,500,000、Indirect Cost: ¥1,350,000)
Fiscal Year 2016: ¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000)
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| Outline of Final Research Achievements |
Human primary immunodeficiency is characterized by immunodeficiency, allergy, and cancer, which is caused by a mutation in a gene expressed in immune systems. We identified hyper-IgE syndrome is caused by dominant negative mutations of the STAT3 gene. We still do not know the molecular origins of 30 percent of hyper-IgE syndrome patients. To identify a novel molecular origin of hyper-IgE syndrome, we performed exome analysis of 100 hyper-IgE patients without mutations in the known molecular origins of hyper-IgE syndrome. We extensively performed in silico, in vitro, and in vivo analysis and identified novel causing gene of hyper-IgE syndrome.
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