2016 Fiscal Year Final Research Report
Elucidation of pathophysiology of novel hyper-IgE syndrome
| Project/Area Number |
16K15529
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | The University of Tokushima |
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Principal Investigator |
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| Project Period (FY) |
2016-04-01 – 2017-03-31
|
| Keywords | 免疫不全症 |
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| Outline of Final Research Achievements |
Hyper IgE syndrome is primary immunodeficiency disorder, which complicates severe atopic dermatitis, marked hyper IgE-emia, Staphylococcus aureus infection, and osteoporosis. In many cases, pulmonary lesions progress from the early postnatal day, culminating to in the Aspergillus infections to pulmonary cysts. We revealed that its major etiology is dominant negative mutation of the STAT3 gene, Still, there are many genetic patients with hyper IgE syndromes in which causal genes are unidentified. Thus, in this study, we analyzed with the next generation sequencer approximately 100 cases and found new causative variants.
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| Free Research Field |
小児科学
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