Research for developing of a screening method for the congenital immunodeficiency by KREC/TREC to apply the method to the pathologic analysis

KREC/TREC 开发先天性免疫缺陷筛查方法并应用于病理分析的研究

• 批准号: 22390213
• 负责人: NONOYAMA Shigeaki
• 金额: $ 11.98万
• 依托单位: National Defense Medical College
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2010
• 资助国家: 日本
• 起止时间: 2010 至 2012
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22390213/
• 关键词: 小児免疫・アレルギー・膠原病学; 免疫学; 遺伝子; 移植・再生医療; 発生・分化; 感染症

We developed real-time PCR-based quantification of T cell receptor excision circles (TREC) and signal joint Ig kappa-deleting recombination excision circles (KREC). We demonstrated that TREC and KREC measurement can be used for mass screening of severe combined immunodeficiency (SCID) and B lymphocyte deficiency in neonates. We also found that TREC and KREC can be used for classifying clinically diagnosed CVID patients into four groups, and that the clinical manifestations, prognosis and outcome are significantly different in these groups, indicating TREC/KREC are good clinical markers.

我们开发了基于实时PCR的T细胞受体切除环（TREC）和信号联合IG κ缺失重组切除环（KREC）的定量。我们证明TREC和KREC测量可用于新生儿重症联合免疫缺陷（SCID）和B淋巴细胞缺乏症的大规模筛查。TREC和KREC可用于临床诊断CVID患者的分类，且不同类型CVID患者的临床表现、预后和转归有显著差异，提示TREC/KREC是一种良好的临床指标。

项目成果

Clinical and Host Genetic Characteristics of Mendelian Susceptibility to Mycobacterial Diseases in Japan

• DOI: 10.1007/s10875-010-9498-y
• 发表时间: 2011-06-01
• 期刊: JOURNAL OF CLINICAL IMMUNOLOGY
• 影响因子: 9.1
• 作者: Hoshina, Takayuki;Takada, Hidetoshi;Hara, Toshiro
• 通讯作者: Hara, Toshiro

Genetic analysis for 207 cases with primary immunodeficiency (PID) consulted to a single center through PID network in Japan (PIDJ) in 5 years (2007-2011)

5年（2007年-2011年）通过日本PID网络（PIDJ）单中心咨询的207例原发性免疫缺陷（PID）患者的基因分析

• 发表时间: 2012
• 作者: Mitsuiki N;Oshima K;Imai K;Ohara O;Morio T,Mizutani S.
• 通讯作者: Morio T,Mizutani S.

小児科診療

儿科治疗

• 发表时间: 2009
• 作者: 石川智久;中村亮太;櫻井亜季
• 通讯作者: 櫻井亜季

GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia

• DOI: 10.1007/s00431-012-1715-7
• 发表时间: 2012-08-01
• 期刊: EUROPEAN JOURNAL OF PEDIATRICS
• 影响因子: 3.6
• 作者: Ishida, Hiroyuki;Imai, Kosuke;Nonoyama, Shigeaki
• 通讯作者: Nonoyama, Shigeaki

Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome

• DOI: 10.1007/s00296-011-2225-z
• 发表时间: 2012-12-01
• 期刊: RHEUMATOLOGY INTERNATIONAL
• 影响因子: 4
• 作者: Mizuno, Takahisa;Sakai, Hidemasa;Arakawa, Hirokazu
• 通讯作者: Arakawa, Hirokazu