Analysis of pathogenesis of common variable immunodeficiency

• Project/Area Number: 15H06186
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: MITSUIKI Noriko 東京医科歯科大学, 大学院医歯学総合研究科, 助教 (30754915)
• Project Period (FY): 2015-08-28 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000); Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
• Keywords: 原発性免疫不全症 / 分類不能型免疫不全症 / 抗体産生不全 / 免疫不全症 / 抗体産生不全症

Outline of Final Research Achievements

Common variable immunodeficiency (CVID) is a heterogeneous form of primary immunodeficiency and characterized by antibody deficiency. Although a small subset of CVID patients has identified a monogenic cause of disease, most of CVID patients have not identified the causes. The aim of research is to identify new genes which cause CVID and to clarify the pathogenesis of CVID. We analyzed the following case: 1) X-linked severe combined immunodeficiency with dysgammaglobulinemia, 2) NFkB2 deficiency, 3) hypogammaglobulinemia due to FANCA mutation. Moreover, we picked up some candidate genes from our whole exome data.

Research Products

• [Journal Article] Common variable immunodeficiency caused by FANC mutations (2017)
  • Author(s): Sekinaka Y,Mitsuiki N,Imai K,Yabe M,Mitsui-Sekinaka K,Honma K,Arai A,Yoshida K,Miyano S,Seiji K,Hira A,Takata M,Ohara O,Ogawa S,Morio T,Nonoyama S.
  • Journal Title: Journal of Clinical Immunology Volume: 印刷中
  • Peer Reviewed
• [Journal Article] Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase delta syndrome-like immunodeficiency. (2016)
  • Author(s): Tsujita Y, et al.
  • Journal Title: J Allergy Clin Immunol. Volume: 138 Issue: 6 Pages: 1672-1680
  • DOI: 10.1016/j.jaci.2016.03.055
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] ロタウイルスワクチン株の持続排泄を認めた重症複合免疫不全症の一例 (2016)
  • Author(s): 友田昂宏, 満生紀子, 岡野 翼, 田中（久保田）真理, 宮本智史, 木村俊介, 高木正稔, 今井耕輔, 梶原道子, 金兼弘和, 森尾友宏.
  • Journal Title: 日本小児科学会雑誌 Volume: 120 Pages: 1643-1648
  • Peer Reviewed
• [Presentation] Activated PI3 Kinase Delta Syndrome (APDS)-like immunodeficiency caused by PTEN mutation (2016)
  • Author(s): Kanako Mitsui-Sekinaka, Kohsuke Imai1, Yuki Tsujita, Noriko Mitsuiki, Takaki Asano, Yujin Sekinaka, Hirokazu Kanegane, Kenichi Yoshida, Satoru Miyano, Seiji Kojima, Seishi Ogawa, Osamu Ohara, Satoshi Okada, Masao Kobayashi, Masatoshi Takagi, Tomohiro Morio, Shigeaki Nonoyama.
  • Organizer: 17th Biennial Meeting of the European Society for Immunodeficiencies
  • Place of Presentation: Brcelona(Spain)
  • Year and Date: 2016-09-21
  • Int'l Joint Research
• [Presentation] Common Variable Immunodeficiency Caused by Fanc Mutations. (2016)
  • Author(s): Sekinaka Y,Mitsuiki N,Imai K,Yabe M,Mitsui-Sekinaka K,Honma K,Arai A,Yoshida K,Miyano S,Seiji K,Hira A,Takata M,Ohara O,Ogawa S,Morio T,Nonoyama S.
  • Organizer: 17th Biennial Meeting of the European Society for Immunodeficiencies
  • Place of Presentation: Brcelona(Spain)
  • Year and Date: 2016-09-21
  • Int'l Joint Research
• [Presentation] IGG1 Gammopathy in X-SCID Caused by Maternal T and B cell Engraftment. (2016)
  • Author(s): Okano T, Watanabe E, Takashima T, Nishikawa T, Kawano Y, Tomoda T, Tanaka-Kubota M, Miyamoto S, Yeh T, Yamashita M, Tanaka K, Mitusiki N, Ohara O, Takagi M, Imai K, Kanegane H, Morio T.
  • Organizer: 17th Biennial Meeting of the European Society for Immunodeficiencies
  • Place of Presentation: Brcelona(Spain)
  • Year and Date: 2016-09-21
  • Int'l Joint Research
• [Presentation] A case of a 10-month-old boy with hypergammaglobulinemia. (2016)
  • Author(s): Noriko MITSUIKI
  • Organizer: Advances in Primary Immunodeficiency
  • Place of Presentation: Berks（United Kingdom）
  • Year and Date: 2016-03-07
• [Presentation] 経口ロタウイルスワクチン株の持続排泄を認めたX連鎖重症複合免疫不全症の一例. (2015)
  • Author(s): 友田昂宏, 宮本智史, 久保田真理, 小野真太郎, 足洗美穂, 満生紀子, 高木正稔, 今井耕輔, 梶原道子, 金兼弘和, 森尾友宏.
  • Organizer: 第47回小児感染症学会
  • Place of Presentation: ザ・セレクトン福島、ホテル福島グリーンパレス、コラッセふくしま(福島県、福島市）
  • Year and Date: 2015-10-31