2019 Fiscal Year Final Research Report
Analysis of microbiota and molecular pathogenesis in primary immunodeficiency diseases
| Project/Area Number |
17K10099
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
Kanegane Hirokazu 東京医科歯科大学, 大学院医歯学総合研究科, 寄附講座教授 (00293324)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Keywords | 原発性免疫不全症 / 腸内細菌叢 |
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| Outline of Final Research Achievements |
Primary immunodeficiency disease (PID) is an inherited disorder in which immune system is impaired. Clinical heterogeneity of PID may be associated with additional factors, although it has monogenic defect. We supposed that the heterogeneity of PID might be linked with aberrant intestinal microbiome. Therefore, we searched intestinal microbiome using next-generation sequencing in patients and their family members with A20 haploinsufficiency (HA20) and XIAP deficiency. A subset of bacteria might affect the pathogenesis of HA20. In XIAP-deficient patients with inflammatory bowel disease, intestinal microbiome was normalized after hematopoietic cell transplantation.
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| Free Research Field |
小児科学
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| Academic Significance and Societal Importance of the Research Achievements |
HA20とXIAP欠損症という限られたPIDであるが、腸内細菌叢がその病態形成に関わっていることが明らかになった。臨床的多様性を有する他のPIDについても腸内細菌叢を調べることによってその病態が明らかになることが期待される。また造血細胞移植の成功によって腸内細菌叢が正常化していることから、免疫の再構築と腸内細菌叢との関係が明らかとなった。今後はマウスモデルを用いて腸内細菌叢を調べることによって新規治療開発も期待される。
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