2016 Fiscal Year Final Research Report
Establishment of novel diagnosis and analysis of pathogenesis of herediatry lymphoproliferative disorders
| Project/Area Number |
26461570
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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, 准教授 (00293324)
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| Co-Investigator(Renkei-kenkyūsha) |
OHARA Osamu 公益財団法人かずさDNA研究所, ヒトゲノム研究部, 副所長 (20370926)
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| Research Collaborator |
HOSHINO Akihiro
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Keywords | X連鎖リンパ増殖症候群 / 自己免疫性リンパ増殖症候群 / SH2D1A / XIAP / NRAS / ZAP70 / IKZF1 |
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| Outline of Final Research Achievements |
We performed whole exome sequencing in patients with possible herediatry lymphoproliferative disorders, and identified NRAS-associated lymphoproliferative disorder, female XIAP deficiency caused by extremely skewed X-chromosome inactivation, aytpical X-linked severe combined immunodeficiency with IL2RG mosaicism, atypical X-linked lymphoproliferative syndrome type 1 with SH2D1A mosaicism, Epstein-Barr virus-associated lymphoproliferative disorder (EBV-LPD) caused by hypomorphic ZAP70 mutation and IKAROS deficiency. It has been proved that EBV-LPD might be associated with at least 23 candidate genes. Therefore, we established comrehensive diagnostic tool by using multiplex PCR and next-generation sequencer.
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| Free Research Field |
小児科学
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