Elucidation of the mechanism of human antibody production by identifying causative genes for primary antibody deficiency

2020 Fiscal Year Annual Research Report

• Project/Area Number: 18K07814
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: 今井 耕輔 東京医科歯科大学, 大学院医歯学総合研究科, 寄附講座准教授 (90332626)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: 抗体産生不全症 / 免疫グロブリン / 形質細胞 / エクソーム解析 / メモリーB細胞 / APRIL / 分類不能型免疫不全症 / DNAメチル化

Outline of Annual Research Achievements

原発性免疫不全症（PID）の半数を占める抗体産生不全症の中で最も患者数の多い分類不能型免疫不全症（CVID）は、記憶Ｂ細胞あるいは形質細胞の分化障害と考えられるが、未だ 90％の症例で原因遺伝子が不明である。本研究では、世界で初めて同定したTNFSF13/APRIL完全欠損症の機能解析と、新規抗体産生不全症の原因遺伝子を明らかにすることを目的としている。今年度は、患者で形質細胞欠損を認めることから、APRIL欠損患者iPS由来単球由来樹状細胞を樹立し、健常B細胞と共培養を行い、形質細胞分化に差を見出し、組換えAPRIL添加により、回復することを証明した。また、in vitroでのT細胞依存性クラススイッチについては異常がないが、末梢血中のメモリーB細胞が全てのサブクラスで減少していることを見出した。本研究により、APRILがメモリーB細胞と形質細胞の維持に関わっていることを見出すことができた（Yeh TW, et al. JACI, 2020）。また、血清BAFF・APRILを用いた新たな抗体産生不全症亜分類法を見出した。ICF症候群1型はDNAのde novoメチル化を行うDNMT3B遺伝子異常によりメモリーB細胞が欠損する疾患であるため、その解析によりB細胞が記憶を行うメカニズムの解明につながる。そこで、本疾患患者のメチローム解析とRNAseqを行った。さらに新規抗体産生不全症として、PNKP異常症の姉妹を発見し、PNKPのT細胞・B細胞受容体再構成への役割についての検討、DNMT3B異常症の解析によるDNAメチル化のB細胞分化への役割の検討と、その他の抗体産生不全症の原因遺伝子についてExome解析等により検討した。

Research Products

• [Int'l Joint Research] Karolinska Institutet, Huddinge(スウェーデン)
  • Country Name: SWEDEN
  • Counterpart Institution: Karolinska Institutet, Huddinge
• [Int'l Joint Research] PGIMER, Chandigarh(インド)
  • Country Name: INDIA
  • Counterpart Institution: PGIMER, Chandigarh
• [Int'l Joint Research] Hopital Necker-Enfants Malades, Paris(フランス)
  • Country Name: FRANCE
  • Counterpart Institution: Hopital Necker-Enfants Malades, Paris
• [Int'l Joint Research] The Rockefeller University, NY(米国)
  • Country Name: U.S.A.
  • Counterpart Institution: The Rockefeller University, NY
• [Journal Article] Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India (2021)
  • Author(s): Rawat A, Vignesh P, Sudhakar M, Sharma M, Suri D, Jindal A, Gupta A, Shandilya JK, Loganathan SK, Kaur G, Chawla S, Patra PK, Khadwal A, Saikia B, Minz RW, Aggarwal V, Taur P, Pandrowala A, Gowri V, Desai M, Kulkarni M, Hule G, Bargir U, Kambli P, Madkaikar M, Bhattad S, Ginigeri C, Kumar H, Jayaram A, Munirathnam D, S
  • Journal Title: Front Immunol Volume: 12 Pages: 625320
  • DOI: 10.3389/fimmu.2021.625320
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3 (2021)
  • Author(s): Tanita K, Sakura F, Nambu R, Tsumura M, Imanaka Y, Ohnishi H, Kato Z, Pan J, Hoshino A, Suzuki K, Yasutomi M, Umetsu S, Okada C, Takagi M, Imai K, Ohara O, Muise AM, Okada S, Morio T, Kanegane H.
  • Journal Title: J Clin Immunol Volume: 41 Pages: 791-794
  • DOI: 10.1007/s10875-021-01014-6
  • Peer Reviewed
• [Journal Article] Correction to: Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia (2021)
  • Author(s): Inoue K, Sasaki S, Yasumi T, Imai K, Kusunoki T, Morio T, Kanegane H.
  • Journal Title: J Clin Immunol Volume: 41 Pages: 847
  • DOI: 10.1007/s10875-021-01015-5
  • Peer Reviewed
• [Journal Article] Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India (2021)
  • Author(s): Vignesh P, Rawat A, Kumrah R, Singh A, Gummadi A, Sharma M, Kaur A, Nameirakpam J, Jindal A, Suri D, Gupta A, Khadwal A, Saikia B, Minz RW, Sharma K, Desai M, Taur P, Gowri V, Pandrowala A, Dalvi A, Jodhawat N, Kambli P, Madkaikar MR, Bhattad S, Ramprakash S, Cp R, Jayaram A, Sivasankaran M, Munirathnam D, Balaji S, Ra
  • Journal Title: Front Immunol Volume: 11 Pages: 619146
  • DOI: 10.3389/fimmu.2020.619146
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India (2021)
  • Author(s): Rawat A, Jindal AK, Suri D, Vignesh P, Gupta A, Saikia B, Minz RW, Banday AZ, Tyagi R, Arora K, Joshi V, Mondal S, Shandilya JK, Sharma M, Desai M, Taur P, Pandrowala A, Gowri V, Sawant-Desai S, Gupta M, Dalvi AD, Madkaikar M, Aggarwal A, Raj R, Uppuluri R, Bhattad S, Jayaram A, Lashkari HP, Rajasekhar L, Munirathnam D
  • Journal Title: Front Immunol Volume: 11 Pages: 612323
  • DOI: 10.3389/fimmu.2020.612323
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings (2021)
  • Author(s): Imanaka Y, Taniguchi M, Doi T, Tsumura M, Nagaoka R, Shimomura M, Asano T, Kagawa R, Mizoguchi Y, Karakawa S, Arihiro K, Imai K, Morio T, Casanova JL, Puel A, Ohara O, Kamei K, Kobayashi M, Okada S.
  • Journal Title: J Clin Immunol Volume: - Pages: -
  • DOI: 10.1007/s10875-021-00988-7
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Functional analysis of novel A20 variants in patients with atypical inflammatory diseases (2021)
  • Author(s): Kadowaki S, Hashimoto K, Nishimura T, Kashimada K, Kadowaki T, Kawamoto N, Imai K, Okada S, Kanegane H, Ohnishi H.
  • Journal Title: Arthritis Res Ther Volume: 23 Pages: 52
  • DOI: 10.1186/s13075-021-02434-w
  • Peer Reviewed
• [Journal Article] Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases (2021)
  • Author(s): Nishimura A, Aoki Y, Ishiwata Y, Ichimura T, Ueyama J, Kawahara Y, Tomoda T, Inoue M, Matsumoto K, Inoue K, Hiroki H, Ono S, Yamashita M, Okano T, Tanaka-Kubota M, Ashiarai M, Miyamoto S, Miyawaki R, Yamagishi C, Tezuka M, Okawa T, Hoshino A, Endo A, Yasuhara M, Kamiya T, Mitsuiki N, Ono T, Isoda T, Yanagimachi M, Tomi
  • Journal Title: J Clin Immunol Volume: - Pages: -
  • DOI: 10.1007/s10875-021-00966-z
  • Peer Reviewed
• [Journal Article] Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura (2021)
  • Author(s): Mushino T, Hiroi T, Yamashita Y, Suzaki N, Mishima H, Ueno M, Kinoshita A, Minami K, Imai K, Yoshiura KI, Sonoki T, Tamura S.
  • Journal Title: Intern Med Volume: - Pages: -
  • DOI: 10.2169/internalmedicine.6694-20
  • Peer Reviewed
• [Journal Article] Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3 (2021)
  • Author(s): Tanita K, Sakura F, Nambu R, Tsumura M, Imanaka Y, Ohnishi H, Kato Z, Pan J, Hoshino A, Suzuki K, Yasutomi M, Umetsu S, Okada C, Takagi M, Imai K, Ohara O, Muise AM, Okada S, Morio T, Kanegane H.
  • Journal Title: J Clin Immunol Volume: 41 Pages: 780-790
  • DOI: 10.1007/s10875-021-00975-y
  • Peer Reviewed
• [Journal Article] A case of autoimmune enteropathy with CTLA4 haploinsufficiency (2021)
  • Author(s): Miyazaki H, Hoshi N, Kohashi M, Tokunaga E, Ku Y, Takenaka H, Ooi M, Yamamoto N, Uemura S, Nishimura N, Iijima K, Jimbo K, Okano T, Hoshino A, Imai K, Kanegane H, Kobayashi I, Kodama Y.
  • Journal Title: Intest Res Volume: - Pages: -
  • DOI: 10.5217/ir.2020.00041
  • Peer Reviewed
• [Journal Article] Liver Abscess in Chronic Granulomatous Disease-Two Decades of Experience from a Tertiary Care Centre in North-West India (2021)
  • Author(s): Pilania RK, Rawat A, Vignesh P, Guleria S, Jindal AK, Das G, Suri D, Gupta A, Gupta K, Chan KW, Lau YL, Imai K, Singh S.
  • Journal Title: J Clin Immunol Volume: 41 Pages: 552-564
  • DOI: 10.1007/s10875-020-00938-9
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Hemophagocytic Lymphohistiocytosis in Children with Chronic Granulomatous Disease-Single-Center Experience from North India (2021)
  • Author(s): Vignesh P, Loganathan SK, Sudhakar M, Chaudhary H, Rawat A, Sharma M, Shekar A, Vaiphei K, Kumar N, Singh Sachdeva MU, Jindal AK, Suri D, Gupta A, Ray P, Imai K, Ohara O, Nonoyama S, Lau YL, Singh S.
  • Journal Title: J Allergy Clin Immunol Pract Volume: 9 Pages: 771-782
  • DOI: 10.1016/j.jaip.2020.11.041
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Cytomegalovirus Laryngitis in Primary Combined Immunodeficiency Diseases (2021)
  • Author(s): Inoue M, Isoda T, Yamashita M, Tomoda T, Inoue K, Okano T, Ohkawa T, Endo A, Mitsuiki N, Kamiya T, Yanagimachi M, Yamamoto K, Inaba Y, Sasaki T, Takagi M, Kanegane H, Imai K, Morio T.
  • Journal Title: J Clin Immunol Volume: 41 Pages: 243-247
  • DOI: 10.1007/s10875-020-00873-9
  • Peer Reviewed
• [Journal Article] Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 (2020)
  • Author(s): Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michaili
  • Journal Title: Science Volume: 370 Pages: eabd4570
  • DOI: 10.1126/science.abd4570
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Autoantibodies against type I IFNs in patients with life-threatening COVID-19 (2020)
  • Author(s): Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Bテゥziat V, Manry J, Shaw E, Haljasmテ、gi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y,
  • Journal Title: Science Volume: 370 Pages: eabd4585
  • DOI: 10.1126/science.abd4585
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia (2020)
  • Author(s): Inoue K, Sasaki S, Yasumi T, Imai K, Kusunoki T, Morio T, Kanegane H.
  • Journal Title: J Clin Immunol Volume: 40 Pages: 1132-1137
  • DOI: 10.1007/s10875-020-00830-6
  • Peer Reviewed
• [Journal Article] DNA Ligase IV Deficiency Identified by Chance Following Vaccine-Derived Rubella Virus Infection (2020)
  • Author(s): Matsumoto K, Hoshino A, Nishimura A, Kato T, Mori Y, Shimomura M, Naito C, Watanabe K, Hamazaki M, Mitsuiki N, Takagi M, Imai K, Nonoyama S, Kanegane H, Morio T.
  • Journal Title: J Clin Immunol Volume: 40 Pages: 1187-1190
  • DOI: 10.1007/s10875-020-00831-5
  • Peer Reviewed
• [Journal Article] Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific (2020)
  • Author(s): Leung D, Chua GT, Mondragon AV, Zhong Y, Nguyen-Ngoc-Quynh L, Imai K, Vignesh P, Suratannon N, Mao H, Lee WI, Kim YJ, Chan GCF, Liew WK, Huong LTM, Kanegane H, Muktiarti D, Zhao X, Santos-Ocampo FJ, Latiff AHA, Seger R, Ochs HD, Singh S, Lee PP, Lau YL.
  • Journal Title: Front Immunol Volume: 11 Pages: 1605
  • DOI: 10.3389/fimmu.2020.01605
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan (2020)
  • Author(s): Yanagimachi M, Kato K, Iguchi A, Sasaki K, Kiyotani C, Koh K, Koike T, Sano H, Shigemura T, Muramatsu H, Okada K, Inoue M, Tabuchi K, Nishimura T, Mizukami T, Nunoi H, Imai K, Kobayashi M, Morio T.
  • Journal Title: Front Immunol Volume: 11 Pages: 1617
  • DOI: 10.3389/fimmu.2020.01617
  • Peer Reviewed / Open Access
• [Journal Article] Prospective Study of Allogeneic Hematopoietic Stem Cell Transplantation with Post-Transplantation Cyclophosphamide and Antithymocyte Globulin from HLA-Mismatched Related Donors for Nonmalignant Diseases (2020)
  • Author(s): Osumi T, Yoshimura S, Sako M, Uchiyama T, Ishikawa T, Kawai T, Inoue E, Takimoto T, Takeuchi I, Yamada M, Sakamoto K, Yoshida K, Kimura Y, Matsukawa Y, Matsumoto K, Imadome KI, Arai K, Deguchi T, Imai K, Yuza Y, Matsumoto K, Onodera M, Kanegane H, Tomizawa D, Kato M.
  • Journal Title: Biol Blood Marrow Transplant Volume: 26 Pages: e286-e291
  • DOI: 10.1016/j.bbmt.2020.08.008
  • Peer Reviewed
• [Journal Article] Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation (2020)
  • Author(s): Matsuda T, Kambe N, Ueki Y, Kanazawa N, Izawa K, Honda Y, Kawakami A, Takei S, Tonomura K, Inoue M, Kobayashi H, Okafuji I, Sakurai Y, Kato N, Maruyama Y, Inoue Y, Otsubo Y, Makino T, Okada S, Kobayashi I, Yashiro M, Ito S, Fujii H, Kondo Y, Okamoto N, Ito S, Iwata N, Kaneko U, Doi M, Hosokawa J, Ohara O, Saito MK, Nis
  • Journal Title: Ann Rheum Dis Volume: 79 Pages: 1492-1499
  • DOI: 10.1136/annrheumdis-2020-217320
  • Peer Reviewed
• [Journal Article] Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations (2020)
  • Author(s): Sakata S, Tsumura M, Matsubayashi T, Karakawa S, Kimura S, Tamaura M, Okano T, Naruto T, Mizoguchi Y, Kagawa R, Nishimura S, Imai K, Le Voyer T, Casanova JL, Bustamante J, Morio T, Ohara O, Kobayashi M, Okada S.
  • Journal Title: Int Immunol Volume: 32 Pages: 663-671
  • DOI: 10.1093/intimm/dxaa043
  • Peer Reviewed
• [Journal Article] Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity (2020)
  • Author(s): Okano T, Imai K, Naruto T, Okada S, Yamashita M, Yeh TW, Ono S, Tanaka K, Okamoto K, Tanita K, Matsumoto K, Toyofuku E, Kumaki-Matsumoto E, Okamura M, Ueno H, Ogawa S, Ohara O, Takagi M, Kanegane H, Morio T.
  • Journal Title: J Clin Immunol Volume: 40 Pages: 729-740
  • DOI: 10.1007/s10875-020-00798-3
  • Peer Reviewed
• [Journal Article] Inherited chromosomally integrated human herpesvirus-6 in a patient with XIAP deficiency (2020)
  • Author(s): Inoue K, Miura H, Hoshino A, Kamiya T, Tanita K, Ohye T, Park MJ, Yanagimachi M, Takagi M, Imai K, Morio T, Yoshikawa T, Kanegane H.
  • Journal Title: Transpl Infect Dis Volume: 22 Pages: e13331
  • DOI: 10.1111/tid.13331
  • Peer Reviewed
• [Journal Article] Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry (2020)
  • Author(s): Kadowaki T, Ohnishi H, Kawamoto N, Kadowaki S, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Hiejima E, Izawa K, Matsubayashi T, Matsumoto K, Imai K, Nishikomori R, Ito S, Kanegane H, Fukao T.
  • Journal Title: Clin Immunol Volume: 216 Pages: 108441
  • DOI: 10.1016/j.clim.2020.108441
  • Peer Reviewed
• [Journal Article] APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans (2020)
  • Author(s): Yeh TW, Okano T, Naruto T, Yamashita M, Okamura M, Tanita K, Du L, Pan-Hammarstrテカm Q, Mitsuiki N, Okada S, Kanegane H, Imai K, Morio T.
  • Journal Title: J Allergy Clin Immunol Volume: 146 Pages: 1109-1120
  • DOI: 10.1016/j.jaci.2020.03.025
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Disseminated fusariosis in a child after haploidentical hematopoietic stem cell transplantation (2020)
  • Author(s): Hoshino A, Tokoro S, Akashi T, Inoue M, Takagi M, Imai K, Kanegane H, Muraosa Y, Kamei K, Morio T.
  • Journal Title: Pediatr Int Volume: 62 Pages: 419-420
  • DOI: 10.1111/ped.14097
  • Peer Reviewed
• [Journal Article] Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients (2020)
  • Author(s): Mori M, Hira A, Yoshida K, Muramatsu H, Okuno Y, Shiraishi Y, Anmae M, Yasuda J, Tadaka S, Kinoshita K, Osumi T, Noguchi Y, Adachi S, Kobayashi R, Kawabata H, Imai K, Morio T, Tamura K, Takaori-Kondo A, Yamamoto M, Miyano S, Kojima S, Ito E, Ogawa S, Matsuo K, Yabe H, Yabe M, Takata M.
  • Journal Title: Haematologica Volume: 105 Pages: 1166-1167
  • DOI: 10.3324/haematol.2019.245720
  • Peer Reviewed
• [Presentation] 移植後6ヶ月以降にドナーキメリズムの回復を認めたＤＮＡリガーゼIV欠損症 (2021)
  • Author(s): 友政弾, 満生紀子, 磯田健志 森下あおい, 山下基, 友田昂宏, 岡野翼, 遠藤明史, 神谷尚宏, 梶原道子, 金兼弘和, 高木正稔, 今井耕輔, 森尾友宏
  • Organizer: 日本免疫不全・自己炎症学会 第４回総会・学術集会
• [Presentation] LOCID（遅発型複合免疫不全症）の診断と治療 (2021)
  • Author(s): 今井耕輔
  • Organizer: 日本免疫不全・自己炎症学会 第４回総会・学術集会
• [Presentation] テキスト含意認識AIを活用した原発性免疫不全症患者の判別分析 (2021)
  • Author(s): 遠藤明史，小戸司，今井耕輔，谷村秀規，岡田真一，関祐文，武田英之，森尾友宏
  • Organizer: 日本免疫不全・自己炎症学会 第４回総会・学術集会
• [Presentation] 1型糖尿病を合併した活性化PI3K-δ症候群2型の一例 (2020)
  • Author(s): 齋藤洋子, 高澤啓, 岡野翼, 神谷尚宏, 今井耕輔, 金兼弘和, 森尾友宏, 鹿島田健一
  • Organizer: 第93回日本内分泌学会学術総会
• [Presentation] 原発性線毛機能不全症同胞例に対する高張食塩水吸入療法の有用性 (2020)
  • Author(s): 江口詩織, 磯田健志, 金田明也, 井上健斗, 星野顕宏, 滝島茂, 柳町昌克, 高木正稔, 金兼弘和, 今井耕輔, 竹内万彦, 森尾友宏
  • Organizer: 第123回日本小児科学会学術集会
• [Presentation] ALLの移植後再発に対し分子標的薬により寛解を得,PT-CY法で再移植した一例 (2020)
  • Author(s): 森下あおい, 山下基, 磯田健志, 友田昂宏, 岡野翼, 神谷尚宏, 遠藤明史, 柳町昌克, 今井耕輔, 金兼弘和, 高木正稔, 森尾友宏
  • Organizer: 第123回日本小児科学会学術集会
• [Presentation] 神経症状・免疫不全を合併したPNKP欠損症姉妹例の病態解析 (2020)
  • Author(s): 渡部眞仁, 谷田けい, 岡野翼, 葉姿?, 重野美湖, 春日彩季, 時政定雄, 濱崎考史, 新宅治夫, 高木正稔, 今井耕輔, 森尾友宏
  • Organizer: 第123回日本小児科学会学術集会
• [Presentation] 微少血尿を契機に発見されたC9欠損症の1例 (2020)
  • Author(s): 大森多恵, 今井耕輔, 高橋匡輝, 大坂渓, 中崎公隆, 吉橋知邦, 平井聖子, 中村隆広, 玉木久光, 三澤正弘
  • Organizer: 第123回日本小児科学会学術集会
• [Presentation] 高張食塩水吸入療法が奏効した原発性線毛機能不全症の兄弟例 (2020)
  • Author(s): 江口詩織, 磯田健志, 金田朋也, 井上健斗, 星野顕宏, 滝島茂, 柳町昌克, 高木正稔, 金兼弘和, 今井耕輔, 竹内万彦, 森尾友宏
  • Organizer: 第123回日本小児科学会学術集会
• [Presentation] 重症感染症を繰り返すも病識が欠如し管理に難渋している高IgE症候群の一例 (2020)
  • Author(s): 江口詩織, 磯田健志, 金田朋也, 井上健斗, 星野顕宏, 滝島茂, 柳町昌克, 高木正稔, 金兼弘和, 今井耕輔, 竹内万彦, 森尾友宏
  • Organizer: 第123回日本小児科学会学術集会
• [Presentation] イントロン変異によるAR-STAT1完全欠損症の一例 (2020)
  • Author(s): 坂田園子, 岡田賢, 松林正, 玉浦萌, 唐川修平, 岡野翼, 今井耕輔, 森尾友宏, 小林正夫
  • Organizer: 第123回日本小児科学会学術集会
• [Presentation] ろ紙血プロテオームを用いた原発性免疫不全症における新生児スクリーニングの可能性 (2020)
  • Author(s): 柴田洋史, 八角高裕, 前田由可子, 宮本尚幸, 伊佐真彦, 本田吉孝, 田中孝之, 井澤和司, 川島祐介, 大西秀典, 石村匡崇, 今井耕輔, 小野寺雅史, 小原收, 滝田順子
  • Organizer: 第123回日本小児科学会学術集会
• [Presentation] Hematopoietic stem cell transplantation for inborn errors of immunity in Japan: overview of a nationwide retrospective analysis (2020)
  • Author(s): Miyamoto S, Yanagimachi M, Umeda K, Iguchi A, Sasahara Y, Takada H, Yamada M, Ishimura M, Koike T, Yasui M, Takahashi Y, Kawaguchi H, Kajiwara M, Inoue M, Kato K, Hashii Y, Atsuta Y, Yabe H, Imai K , Morio T.
  • Organizer: 46th Annual Meeting of the European Society for Blood and Marrow Transplantation (EBMT 2020 Virtual)
  • Int'l Joint Research
• [Presentation] Hematopoietic stem cell transplantation for severe combined immunodeficiency in Japan: a nationwide retrospective analysis (2020)
  • Author(s): Satoshi Miyamoto, Masakatsu Yanagimachi, Katsutsugu Umeda, Akihiro Iguchi, Yoji Sasahara, Hidetoshi Takada, Yoshiyuki Takahashi, Michiko Kajiwara, Masami Inoue, Koji Kato, Yoshiko Hashii, Yoshiko Atsuta, Hiromasa Yabe, Kohsuke Imai, Tomohiro Morio
  • Organizer: 46th Annual Meeting of the European Society for Blood and Marrow Transplantation (EBMT 2020 Virtual)
  • Int'l Joint Research
• [Presentation] Common Variable Immunodeficiency (2020)
  • Author(s): Kohsuke Imai
  • Organizer: 第69回日本アレルギー学会学術大会
  • Invited
• [Presentation] TREC、KREC を用いた原発性免疫不全症新生児マススクリーニング法の開発：15,000 検体の解析結果 (2020)
  • Author(s): 廣木遥，遠藤明史，外丸靖浩，花井潤師，山田雅文, 大西秀典，深尾敏幸，森尾友宏 ，今井耕輔
  • Organizer: 第 47 回日本マススクリーニング学会学術集会
• [Presentation] 原発性免疫不全症新生児スクリーニングの医療経済学的評価 (2020)
  • Author(s): 遠藤明史，此村恵子，廣木遥，今井耕輔
  • Organizer: 第 47 回日本マススクリーニング学会学術集会
• [Presentation] 重症原発性免疫不全症新生児スクリーニングの実現に向けて (2020)
  • Author(s): 今井耕輔
  • Organizer: 第227回大阪小児科学会
  • Invited
• [Presentation] CARD9 DEFICIENCY IN A PATIENT WITH INVASIVE INFECTION DUE TO EXOPHIALA DERMATITIDIS AND THE ASYMPTOMATIC SIBLINGS (2020)
  • Author(s): Y. Imanaka, M. Taniguchi, T. Doi, M. Shimomura, M. Tsumura, S. Karakawa, K. Imai, T. Morio, A. Puel, J.-L. Casanova, O. Ohara, K. Kamei, M. Kobayashi, S. Okada
  • Organizer: 19th Biennial Meeting of The European Society of immunodeficiencies (ESID 2020)
  • Int'l Joint Research
• [Presentation] CLINICAL, IMMUNOLOGICAL, AND MOLECULAR FEATURES OF SEVERE COMBINED IMMUNE DEFICIENCY: A REPORT OF 87 PATIENTS FROM 3 TERTIARY CARE CENTRES IN INDIA (2020)
  • Author(s): P. Vignesh, A. Rawat, A. Singh, R. Kumrah, A. Gummadi, A. Kaur, S. Bhattad, A. Mehta, D. Suri, A. Jinda, D. Leung, S. Ramprakash, R. Cp, K.W. Chan, Y. Ogura, K. Imai, O. Ohara, S. Nonoyama, M. Hershfield, Y. Lau, S. Singh
  • Organizer: 19th Biennial Meeting of The European Society of immunodeficiencies (ESID 2020)
  • Int'l Joint Research
• [Presentation] PATIENTS WITH THE GAIN-OF-FUNCTION MUTATIONS IN STAT3 PRESENT WITH A VARIETY OF AUTOIMMUNE DISEASES (2020)
  • Author(s): K. Tanita, F. Sakura, M. Tsumura, H. Ohnishi, A. Hoshino, K. Suzuki, S. Okada, R. Nambu, S. Umetsu, K. Imai, T. Morio, H. Kanegane
  • Organizer: 19th Biennial Meeting of The European Society of immunodeficiencies (ESID 2020)
  • Int'l Joint Research
• [Presentation] 免疫疾患の遺伝的背景 APRIL欠損症による新たな分類不能型免疫不全症の解析を通したヒト形質細胞分化についての検討 (2020)
  • Author(s): Yeh Tzu-Wen, 岡野翼, 今井耕輔, 森尾友宏
  • Organizer: 第48回日本臨床免疫学会総会
• [Presentation] 先天性免疫異常症(原発性免疫不全症)の国際分類up-to-date (2020)
  • Author(s): 岡本圭祐, 今井耕輔, 森尾友宏．
  • Organizer: 第48回日本臨床免疫学会総会
• [Presentation] カナキヌマブが著効し投与中止が可能となったTRAPSの一男児例 (2020)
  • Author(s): 山崎晋, 真保麻実, 阿久津裕子, 岡本圭祐, 清水正樹, 今井耕輔, 森尾友宏, 森雅亮.
  • Organizer: 第48回日本臨床免疫学会総会
• [Presentation] ヒト免疫異常症に対するリンパ球分化解析 (2020)
  • Author(s): 今井耕輔
  • Organizer: 第48回日本臨床免疫学会総会
• [Presentation] 自己炎症疾患が疑われた3症例で同定されたTNFAIP3遺伝子の末報告非同義置換のin vitro機能解析 (2020)
  • Author(s): 門脇沙織, 大西秀典, 門脇朋範, 川本典生, 橋本邦生, 西村豊樹, 岡田賢, 鹿島田健一, 今井耕輔, 金兼弘和
  • Organizer: 第48回日本臨床免疫学会総会
• [Presentation] 当科で経験したXIAP欠損症関連炎症性腸疾患について (2020)
  • Author(s): 小野真太郎, 金兼弘和, 柳町昌克, 足洗美穂, 田中真理, 廣木遥, 井上健斗, 星野顕宏, 神谷尚宏, 満生紀子, 磯田健志, 高木正稔, 今井耕輔, 森尾友宏
  • Organizer: 第47回日本小児栄養消化器肝臓学会
• [Presentation] 大腸菌性髄膜炎を3回反復した乳児例 (2020)
  • Author(s): 新妻隆広,大日方薫,清水俊明,遠藤明史,柳町昌克,今井耕輔
  • Organizer: 第52回日本小児感染症学会 総会・学術集会
• [Presentation] X連鎖無ガンマグロブリン症患者におけるNon-Helicobacter pyrori Helicobacter 感染症の診断と治療の問題点 (2020)
  • Author(s): 井上健斗,佐々木彩恵子,八角高裕,今井耕輔,楠隆,森尾友宏,金兼弘和
  • Organizer: 第52回日本小児感染症学会総会・学術集会
• [Presentation] 経口ロタウイルスワクチン株が検出された重症複合免疫不全症 (2020)
  • Author(s): 谷田けい,河村吉紀,友田昴宏,井上健斗,井口晶裕,山田雅文,吉田太郎,村松秀城,多田憲正,石村匡崇,大賀正一,今井耕輔,森尾友宏,吉川哲史,金兼弘和
  • Organizer: 第52回日本小児感染症学会 総会・学術集会
• [Presentation] CAR-T療法の実際:様々な状況下での経験を通して (2020)
  • Author(s): 神谷尚宏, 友政禅, 友田昴宏, 山下基, 磯田健志, 今井耕輔, 金兼弘和, 高木正稔, 森尾友宏
  • Organizer: 第62回日本小児血液・がん学会学術集会
• [Presentation] 再発生MLL遺伝子再構成陽性乳児急性リンパ性白血病にt外資CAR-T療法を施行した一例 (2020)
  • Author(s): Takahiro Tomoda, Takahiro Kamiya, Tsubasa Okano, Miho Ashiarai, Hiroki Yoshihara, Kohsuke Imai, Hirokazu Kanegane, Masatoshi Takagi, Daisuke Hasegawa, Tomohiro Morio
  • Organizer: 第62回日本小児血液・がん学会学術集会
• [Presentation] リンパ節腫脹と自己抗体陽性を契機に診断に至った自己免疫性リンパ増殖症候群の1例 (2020)
  • Author(s): Takuya Takahashi,Mikiya Endo,Daishi Hirai,Shoko Miura,Yoshiko Asakura,Yuuko Hayashi, Kotarou Oyama,Taketora Echizenya,Chikako Tono,Kohsuke Imai
  • Organizer: 第62回 日本小児血液・がん学会学術集会
• [Presentation] 造血細胞移植によるXIAP欠損症関連炎症性腸疾患の治療 (2020)
  • Author(s): Shintaro Ono, Takahiro Kamiya, Masakatsu Yanagimachi, Toshihiko Imamura, Yoji Sasahara, Junichi Sugita, Kohsuke Imai, Tomohiro Morio, Motohiro Kato, Hirokazu Kanegane
  • Organizer: 第62回日本小児血液・がん学会学術集会
• [Presentation] NEMO異常症の骨髄移植後二次性生着不全に対するPTCy法を用いたHLA半合致サルベージ移植 (2020)
  • Author(s): Yumika Hoshina, Shizuka Kirino, Takahiro Tomoda, Motoi Yamashita, Tsubasa Okano, Takahiro Kamiya, Masatoshi Takagi, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio
  • Organizer: 第62回日本小児血液・がん学会学術集会
• [Presentation] 小児期にホジキンリンパ種を発症し、成人後に免疫グロブリン低下を指摘されALPS-FASと診断された一例 (2020)
  • Author(s): Yohei Nishiyama, Etsushi Toyofuku, Tsubasa Okano, Motoi Yamashita, Takahiro Kamiya, Akifumi Endo, Hirokazu Kanegane, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio
  • Organizer: 第62回日本小児血液・がん学会学術集会
• [Presentation] ステロイド抵抗性肺GVHDに対してルキソリチニブを使用した２例 (2020)
  • Author(s): Dan Tomomasa, Takeshi Isoda, Motoi Yamashita, Aoi Morishita, Noriko Mitsuiiki, Takahiro Kamiya, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio
  • Organizer: 第62回日本小児血液・がん学会学術集会
• [Presentation] PTCyハプロ移植症例の６例の後方視的検討 (2020)
  • Author(s): Akifumi Endo, Motoi Yamashita, Takahiro Kamiya, Noriko Mitsuiki, Takeshi Isoda, Kohsuke Imai, Masatoshi Takagi, Michiko Kajiwara, Hirokazu Kanegane, Tomohiro Morio
  • Organizer: 第62回日本小児血液・がん学会学術集会
• [Book] 日本臨床増刊号 原発性免疫不全症候群 (2020)
  • Author(s): 金兼弘和, 谷田けい, 今井耕輔
  • Total Pages: 8
  • Publisher: 日本臨床社
• [Remarks] 「抗体産生不全症の原因遺伝子APRILを発見」 ―新しい抗体産生療法への応用に期待―
  • URL: https://www.tmd.ac.jp/archive-tmdu/kouhou/20200423_2.pdf