{"id":"hum0101","version":1,"url":"https://humandbs.dbcls.jp/research/hum0101/v1","datePublished":"2018-05-11","versions":[{"version":1,"datePublished":"2018-05-11"}],"title":{"ja":"EBウイルス関連リンパ腫を発症した原発性免疫不全症候群の原因遺伝子探索に関する研究","en":"Identification of gene mutations in primary immunodeficiency characterized by EBV-associated B-cell lymphoma"},"summary":{"aims":{"ja":"EBウイルス関連リンパ腫を発症した原発性免疫不全が疑われる患者の原因遺伝子の解明","en":"Identification of gene mutations in the patients with primary immunodeficiency characterized by EBV-associated B-cell lymphoma"},"methods":{"ja":"次世代シーケンサーを用いたターゲットエクソーム解析","en":"targeted exome sequencing"},"targets":{"ja":"EBウイルス関連リンパ腫を発症し、原発性免疫不全が疑われた患者2名およびその両親（計4名）","en":"two patients with primary immunodeficiency (PID) characterized by EBV-associated B-cell lymphoma and their parents"},"url":{"ja":[{"url":"https://nagoya.hosp.go.jp/crc/","text":"https://nagoya.hosp.go.jp/crc/"}],"en":[{"url":"https://nagoya.hosp.go.jp/crc/en/","text":"https://nagoya.hosp.go.jp/crc/en/"}]}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"原発性免疫不全症：2症例\n（日本人）","en":"2 patients with primary immunodeficiency\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）","en":"NGS\n(Target Capture)"}},"releaseNote":{"ja":"EBウイルス関連リンパ腫を発症した原発性免疫不全症2症例およびその両親の末梢血から抽出したDNAを用いたエクソーム解析（2,761 遺伝子）の結果をFastqファイルにて提供する。Illumina TruSight Exome Kitを用いて2,761 遺伝子のExon領域にしぼりIllumina [MiSeq]にて平均長75塩基のDNA断片を解読した（Paired-end）。","en":"DNAs extracted from peripheral blood cells obtained from two patients with primary immunodeficiency characterized by EBV-associated B-cell lymphoma and their parents were used for targeted exome sequencing (fastq files). Exons for 2761 genes were narrowed down by using of Illumina TruSight Exome Kit and read by Illumina [MiSeq] (paired-end: 75 bp)."},"dataProviders":[{"name":{"ja":"岩谷 靖雅","en":"Yasumasa Iwatani"},"organization":{"name":{"ja":"（独）国立病院機構 名古屋医療センター 臨床研究センター 感染・免疫研究部","en":"Department of Infectious Diseases and Immunology, Clinical Research Center, National Hospital Organization Nagoya Medical Center"}}}],"researchProjects":[],"grants":[],"relatedPublications":[{"title":"Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia","doi":"https://doi.org/10.1038/s41598-018-25260-8","datasets":["JGAD000098"]}],"datasets":["JGAD000098"],"controlledAccessUsers":[]}