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

• Project/Area Number: 18K07814
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: IMAI Kohsuke 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
• Project Status: Completed (Fiscal Year 2020)
• Budget Amount: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000); Fiscal Year 2020: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
• Keywords: 抗体産生 / 免疫記憶 / 原発性免疫不全症 / 形質細胞 / B細胞 / DNAメチル化 / 遺伝子再構成 / エクソーム解析 / 抗体産生不全症 / 免疫グロブリン / メモリーB細胞 / APRIL / 分類不能型免疫不全症 / 免疫グロブリンクラススイッチ / 樹状細胞

Outline of Final Research Achievements

Common variable immunodeficiency (CVID) is a disease in which antibody production is not possible due to a single gene abnormality. In this study, through the analysis of novel CVID patient due to complete APRIL deficiency, we found that APRIL is responsible for lifelong immunological memory by maintaining memory B cells and plasma cells, and proposed a new CVID subclassification method using serum BAFF and APRIL. In addition, through the analysis of patients with PNKP deficiency and DNMT3B mutated ICF syndrome, which were found by whole exome sequencing, we studied the mechanisms by which each molecule is involved in B cell receptor gene rearrangement and memory B cell differentiation and maintenance.

Academic Significance and Societal Importance of the Research Achievements

APRIL欠損症の発見と病態の解明から、抗体産生へのAPRILの役割がわかり、組換えAPRILの臨床応用への可能性が示唆された。抗体産生不全症約200例について、記憶B細胞、形質細胞、IgG/A/M/E、血漿APRIL, BAFFを用いた分類を行った。XLA患者では全例BAFF高値・APRIL正常範囲であり、その他の抗体産生不全症患者、自己免疫疾患患者を、BAFF and/or APRIL高値と正常の4群にわけることが可能であった。また、抗体産生不全症を中心とした175例でのExome解析の結果、約1／3は既知遺伝子異常が同定されたが、残り2／3は原因不明であり、今後の研究の進展が望まれる。

Research Products

• [Int'l Joint Research] Karolinska Institutet, Huddinge(スウェーデン)
• [Int'l Joint Research] PGIMER, Chandigarh(インド)
• [Int'l Joint Research] Hopital Necker-Enfants Malades, Paris(フランス)
• [Int'l Joint Research] The Rockefeller University, NY(米国)
• [Int'l Joint Research] カロリンスカ研究所(スウェーデン)
• [Journal Article] Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura (2021)
  • Author(s): Mushino Toshiki、Hiroi Takayuki、Yamashita Yusuke、Suzaki Norihiko、Mishima Hiroyuki、Ueno Masaki、Kinoshita Akira、Minami Koichi、Imai Kohsuke、Yoshiura Ko-ichiro、Sonoki Takashi、Tamura Shinobu
  • Journal Title: Internal Medicine Volume: 60 Issue: 12 Pages: 1927-1933
  • DOI: 10.2169/internalmedicine.6694-20
  • NAID: 130008052635
  • ISSN: 0918-2918, 1349-7235
  • Year and Date: 2021-06-15
  • Peer Reviewed / Open Access
• [Journal Article] Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of Patients From India. (2021)
  • Author(s): Rawat A, Vignesh P, Sudhakar M, Nonoyama S, Lau YL and Singh S, et al.
  • Journal Title: Front Immunol. Volume: 12 Pages: 625320-625320
  • 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 Issue: 4 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 Issue: 4 Pages: 847-847
  • DOI: 10.1007/s10875-021-01015-5
  • Peer Reviewed
• [Journal Article] Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India. (2021)
  • Author(s): Rawat A, Jindal AK, Suri D, Nonoyama S, Lau YL, Singh S,et al.
  • Journal Title: Front Immunol. Volume: 15 Pages: 612323-612323
  • 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 Yusuke、Taniguchi Maki、Doi Takehiko、Tsumura Miyuki、Nagaoka Rie、Shimomura Maiko、Asano Takaki、Kagawa Reiko、Mizoguchi Yoko、Karakawa Shuhei、Arihiro Koji、Imai Kohsuke、Morio Tomohiro、Casanova Jean-Laurent、Puel Anne、Ohara Osamu、Kamei Katsuhiko、Kobayashi Masao、Okada Satoshi
  • Journal Title: Journal of Clinical Immunology Volume: - Issue: 5 Pages: 975-986
  • 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 Issue: 1 Pages: 52-52
  • DOI: 10.1186/s13075-021-02434-w
  • Peer Reviewed / Open Access
• [Journal Article] Hematopoietic Cell Transplantation with Reduced Intensity Conditioning Using Fludarabine/Busulfan or Fludarabine/Melphalan for Primary Immunodeficiency Diseases (2021)
  • Author(s): Nishimura Akira、Aoki Yuki、Ishiwata Yasuyoshi、・・・Endo Akifumi、Yasuhara Masato、Kamiya Takahiro、Mitsuiki Noriko、Ono Toshiaki、Isoda Takeshi、Yanagimachi Masakatsu、Tomizawa Daisuke、Nagasawa Masayuki、Mizutani Shuki、Kajiwara Michiko、Takagi Masatoshi、Kanegane Hirokazu、Imai Kohsuke、Morio Tomohiro
  • Journal Title: Journal of Clinical Immunology Volume: online Issue: 5 Pages: 944-957
  • DOI: 10.1007/s10875-021-00966-z
  • Peer Reviewed
• [Journal Article] Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3 (2021)
  • Author(s): Tanita Kay、Sakura Fumiaki、Nambu Ryusuke、Tsumura Miyuki、Imanaka Yusuke、Ohnishi Hidenori、Kato Zenichiro、Pan Jie、Hoshino Akihiro、Suzuki Koji、Yasutomi Motoko、Umetsu Shuichiro、Okada Chizuru、Takagi Masatoshi、Imai Kohsuke、Ohara Osamu、Muise Alexo M.、Okada Satoshi、Morio Tomohiro、Kanegane Hirokazu
  • Journal Title: Journal of Clinical Immunology Volume: - Issue: 4 Pages: 780-790
  • DOI: 10.1007/s10875-021-00975-y
  • Peer Reviewed / Int'l Joint Research
• [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: - Issue: 1 Pages: 144-149
  • DOI: 10.5217/ir.2020.00041
  • NAID: 120007188939
  • 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 Issue: 3 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, Sachdeva MUS, Jindal AK, Suri D, Gupta A, Ray P, Imai K, Ohara O, Nonoyama S, Lau YL and Singh S.
  • Journal Title: J Allergy Clin Immunol Pract, Volume: 9 Issue: 2 Pages: 771-782
  • DOI: 10.1016/j.jaip.2020.11.041
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A multi-institutional experience from India. (2020)
  • Author(s): Vignesh P, Rawat A, Nonoyama S, Hershfield M.S, Lau Y.L, Singh S, et al.
  • Journal Title: Front Immunol Volume: 11 Pages: 619146-619146
  • DOI: 10.3389/fimmu.2020.619146
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Cytomegalovirus Laryngitis in Primary Combined Immunodeficiency Diseases (2020)
  • Author(s): Inoue Maiko、Isoda Takeshi、Yamashita Motoi、Tomoda Takahiro、Inoue Kento、Okano Tsubasa、Ohkawa Teppei、Endo Akifumi、Mitsuiki Noriko、Kamiya Takahiro、Yanagimachi Masakatsu、Yamamoto Kouhei、Inaba Yuichiro、Sasaki Toru、Takagi Masatoshi、Kanegane Hirokazu、Imai Kohsuke、Morio Tomohiro
  • Journal Title: Journal of Clinical Immunology Volume: 41 Issue: 1 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 Issue: 6515
  • 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 Issue: 6515
  • 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 Issue: 8 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 Issue: 8 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: 1605-1605
  • 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: 1617-1617
  • 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 K、Arai K、Deguchi T、Imai K、Yuza Y、Matsumoto K、Onodera M、Kanegane H、Tomizawa D、Kato M
  • Journal Title: Biology of Blood and Marrow Transplantation Volume: 26 Issue: 11 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. Hosokawa, J. Ohara, O. Saito, M. K. Nishikomori, R.
  • Journal Title: Annals of the Rheumatic Diseases Volume: 79 Issue: 11 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 Sonoko、Tsumura Miyuki、Matsubayashi Tadashi、Karakawa Shuhei、Kimura Shunsuke、Tamaura Moe、Okano Tsubasa、Naruto Takuya、Mizoguchi Yoko、Kagawa Reiko、Nishimura Shiho、Imai Kohsuke、Le Voyer Tom、Casanova Jean-Laurent、Bustamante Jacinta、Morio Tomohiro、Ohara Osamu、Kobayashi Masao、Okada Satoshi
  • Journal Title: International Immunology Volume: 32 Issue: 10 Pages: 663-671
  • DOI: 10.1093/intimm/dxaa043
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity (2020)
  • Author(s): Okano Tsubasa、Imai Kohsuke、Naruto Takuya、Okada Satoshi、Yamashita Motoi、Yeh Tzu-wen、Ono Shintaro、Tanaka Keisuke、Okamoto Keisuke、Tanita Kay、Matsumoto Kazuaki、Toyofuku Etsushi、Kumaki-Matsumoto Eri、Okamura Miko、Ueno Hiroo、Ogawa Seishi、Ohara Osamu、Takagi Masatoshi、Kanegane Hirokazu、Morio Tomohiro
  • Journal Title: Journal of Clinical Immunology Volume: 40 Issue: 5 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 Kento、Miura Hiroki、Hoshino Akihiro、Kamiya Takahiro、Tanita Kay、Ohye Tamae、Park Myoung‐Ja、Yanagimachi Masakatsu、Takagi Masatoshi、Imai Kohsuke、Morio Tomohiro、Yoshikawa Tetsushi、Kanegane Hirokazu
  • Journal Title: Transplant Infectious Disease Volume: - Issue: 5
  • DOI: 10.1111/tid.13331
  • Peer Reviewed / Open Access
• [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: Clinical Immunology Volume: 216 Pages: 108441-108441
  • 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 Tzu-Wen、Okano Tsubasa、Naruto Takuya、Yamashita Motoi、Okamura Miko、Tanita Kay、Du Likun、Pan-Hammarstrom Qiang、Mitsuiki Noriko、Okada Satoshi、Kanegane Hirokazu、Imai Kohsuke、Morio Tomohiro
  • Journal Title: Journal of Allergy and Clinical Immunology Volume: 146 Issue: 5 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 Issue: 3 Pages: 419-420
  • DOI: 10.1111/ped.14097
  • Peer Reviewed / Open Access
• [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 Issue: 4 Pages: 1166-116
  • DOI: 10.3324/haematol.2019.245720
  • Peer Reviewed / Open Access
• [Journal Article] High-throughput analysis revealed the unique immunoglobulin gene rearrangements in plasmacytoma-like post-transplant lymphoproliferative disorder (2020)
  • Author(s): Hoshino A, Nishimura A, Naruto T, Okano T, Matsumoto K, Okamoto K, Shintaku H, Tokoro S, Okamoto H, Wada T, Takagi M, Imai K, Kanegane H, Morio T
  • Journal Title: Br J Haematol Volume: - Issue: 4
  • DOI: 10.1111/bjh.16583
  • Peer Reviewed / Open Access
• [Journal Article] Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation (2020)
  • Author(s): Moriya K, Suzuki T, Uchida N, Nakano T, Katayama S, Irie M, Rikiishi T, Niizuma H, Okada S, Imai K, Sasahara Y, Kure S
  • Journal Title: Int J Hematol Volume: - Issue: 2 Pages: 258-262
  • DOI: 10.1007/s12185-020-02860-7
  • Peer Reviewed / Open Access
• [Journal Article] Induction therapy with rituximab for lupus nephritis due to prolidase deficiency (2020)
  • Author(s): Sato Satoshi、Ohnishi Takuma、Uejima Yoji、Furuichi Mihoko、Fujinaga Shuichiro、Imai Kohsuke、Nakamura Kimitoshi、Kawano Yutaka、Suganuma Eisuke
  • Journal Title: Rheumatology Volume: - Issue: 10 Pages: e57-e59
  • DOI: 10.1093/rheumatology/keaa051
  • Peer Reviewed / Open Access
• [Journal Article] Impact of graft-versus-host disease on the clinical outcome of allogeneic hematopoietic stem cell transplantation for non-malignant diseases (2020)
  • Author(s): Umeda K, Imai K, Yanagimachi M, Yabe H, Kobayashi M, Takahashi Y, Kajiwara M, Yoshida N, Cho Y, Inoue M, Hashii Y, Atsuta Y, Morio T
  • Journal Title: Int J Hematol Volume: - Issue: 6 Pages: 869-876
  • DOI: 10.1007/s12185-020-02839-4
  • Peer Reviewed / Open Access
• [Journal Article] 特集 原発性免疫不全症候群-最近の話題 ５.原発性免疫不全症候群の診断と遺伝子解析ネットワーク (2019)
  • Author(s): 金兼 弘和、今井 耕輔
  • Journal Title: 小児科 Volume: 60 Issue: 9 Pages: 1249-1256
  • DOI: 10.18888/sh.0000001007
  • ISSN: 0037-4121
  • Year and Date: 2019-08-01
  • Peer Reviewed
• [Journal Article] Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases (2019)
  • Author(s): Sutani Akito、Miyakawa Yuichi、Tsuji-Hosokawa Atsumi、Nomura Risa、Nakagawa Ryuichi、Nakajima Keisuke、Maru Mitsue、Aoki Yuki、Takasawa Kei、Takagi Masatoshi、Imai Kohsuke、Kashimada Kenichi、Morio Tomohiro
  • Journal Title: Clinical Pediatric Endocrinology Volume: 28 Issue: 4 Pages: 105-112
  • DOI: 10.1297/cpe.28.105
  • NAID: 130007731285
  • Peer Reviewed / Open Access
• [Journal Article] Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. (2019)
  • 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: - Issue: 10 Pages: 1962-1973
  • DOI: 10.3324/haematol.2018.207241
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Fatal idiopathic pneumonia syndrome in Artemis deficiency (2019)
  • Author(s): Hayase Tomomi、Ikeda Takahiro、Yoshimoto Taichiro、Imai Kohsuke、Morimoto Akira
  • Journal Title: Pediatrics International Volume: 61 Issue: 9 Pages: 929-931
  • DOI: 10.1111/ped.13951
  • Peer Reviewed / Open Access
• [Journal Article] A deep intronic mutation of c.1166-285?T?>?G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM) (2019)
  • Author(s): Tozawa Yusuke、Abdrabou Shimaa Said Mohamed Ali、Nogawa-Chida Natsuko、Nishiuchi Ritsuo、Ishida Toshiaki、Suzuki Yuichi、Sano Hideki、Kobayashi Ryoji、Kishimoto Kenji、Ohara Osamu、Imai Kohsuke、Naruto Takuya、Kobayashi Kunihiko、Ariga Tadashi、Yamada Masafumi
  • Journal Title: Clinical Immunology Volume: 208 Pages: 108256-108256
  • DOI: 10.1016/j.clim.2019.108256
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia (2019)
  • Author(s): Hasegawa S, Kumada S, Tanuma N, Tsuji-Hosokawa A, Kashimada A, Mizuno T, Moriyama K, Sugawara Y, Shirai I, Miyata Y, Nishida H, Mashimo H, Hasegawa T, Hosokawa T, Hisakawa H, Uematsu M, Fujine A, Miyata R, Sakuma H, Kashimada K, Imai K, Morio T, Hayashi M, Mizutani S, Takagi M
  • Journal Title: Pediatric Neurology Volume: 100 Pages: 60-66
  • DOI: 10.1016/j.pediatrneurol.2019.05.006
  • Peer Reviewed / Open Access
• [Journal Article] Prominent Dermal Langerhans Cells in an Omenn Syndrome Patient With a Novel Mutation in the IL2RG Gene (2019)
  • Author(s): Ibusuki Atsuko、Nishikawa Takuro、Hiraki Tsubasa、Okano Tsubasa、Imai Kohsuke、Kanegane Hirokazu、Ohnishi Hidenori、Kato Zenichiro、Fujii Kazuyasu、Tanimoto Akihide、Kawano Yoshifumi、Kanekura Takuro
  • Journal Title: The Journal of Dermatology Volume: 46 Issue: 11 Pages: 1019-1023
  • DOI: 10.1111/1346-8138.15054
  • Peer Reviewed / Open Access
• [Journal Article] Impact of low-dose irradiation and in vivo T-cell depletion on hematopoietic stem cell transplantation for non-malignant diseases using fludarabine-based reduced-intensity conditioning (2019)
  • Author(s): Katsutsugu K、、Yabe H、Kato K、Adachi S、Atsuta Y、Morio T et al.
  • Journal Title: Bone Marrow Transplantation Volume: 印刷中 Issue: 8 Pages: 1227-1236
  • DOI: 10.1038/s41409-018-0418-8
  • Peer Reviewed / Open Access
• [Journal Article] Long-term outcome and chimerism in patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation: a retrospective nationwide survey (2019)
  • Author(s): Iguchi A, Cho Y, Yabe H, Kato S, Kato K, Hara J, Koh K, Takita J, Ishihara T, Inoue M, Imai K, Nakayama H, Hashii Y, Morimoto A, Atsuta Y, Morio T
  • Journal Title: Int J Hematol Volume: 110 Issue: 3 Pages: 364-369
  • DOI: 10.1007/s12185-019-02686-y
  • Peer Reviewed / Open Access
• [Journal Article] Identification of autoantibodies using human proteome microarrays in patients with IPEX syndrome (2019)
  • Author(s): Hoshino Akihiro、Kanegane Hirokazu、Nishi Masanori、Tsuge Ikuya、Tokuda Kiriko、Kobayashi Ichiro、Imai Kohsuke、Morio Tomohiro、Takagi Masatoshi
  • Journal Title: Clinical Immunology Volume: 203 Pages: 9-13
  • DOI: 10.1016/j.clim.2019.03.011
  • Peer Reviewed / Open Access
• [Journal Article] A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency (2019)
  • Author(s): Yamashita M, Wakatsuki R, Kato T, Okano T, Yamanishi S, Mayumi N, Tanaka M, Ogura Y, Kanegane H, Nonoyama S, Imai K, Morio T
  • Journal Title: Int J Hematol Volume: 109 Issue: 5 Pages: 603-611
  • DOI: 10.1007/s12185-019-02619-9
  • Peer Reviewed / Open Access
• [Journal Article] Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency (2019)
  • Author(s): Kumaki Eri、Tanaka Keisuke、Imai Kohsuke、Aoki-Nogami Yuki、Ishiguro Akira、Okada Satoshi、Kanegane Hirokazu、Ishikawa Fumihiko、Morio Tomohiro
  • Journal Title: International Journal of Hematology Volume: 109 Issue: 4 Pages: 382-389
  • DOI: 10.1007/s12185-019-02614-0
  • Peer Reviewed
• [Journal Article] Two Prenatal Cases of Hyper-IgE Syndrome (2019)
  • Author(s): Egawa Makiko、Imai Kohsuke、Taketani Yoko、Morio Tomohiro、Miyasaka Naoyuki
  • Journal Title: Journal of Clinical Immunology Volume: 39 Issue: 1 Pages: 15-18
  • DOI: 10.1007/s10875-018-0588-6
  • Peer Reviewed
• [Journal Article] Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders (2019)
  • Author(s): Kashimada Ayako、Hasegawa Setsuko、Nomura Toshihiro、Shiraku Hiroshi、Moriyama Kengo、Suzuki Tomonori、Nakajima Keisuke、Mizuno Tomoko、Imai Kohsuke、Sugawara Yuji、Morio Tomohiro、Kumada Satoko、Takagi Masatoshi
  • Journal Title: Brain and Development Volume: 41 Issue: 2 Pages: 150-157
  • DOI: 10.1016/j.braindev.2018.09.007
  • Peer Reviewed
• [Journal Article] Intravenous immunoglobulin (IVIG) efficiency in women with common variable immunodeficiency (CVID) decreases significantly during pregnancy (2018)
  • Author(s): Egawa M, Kanegane H, Imai K, Morio T, Miyasaka N
  • Journal Title: J Matern Fetal Neonatal Med Volume: 印刷中 Issue: 18 Pages: 3092-3096
  • DOI: 10.1080/14767058.2018.1455824
  • Peer Reviewed
• [Journal Article] Peripheral blood lymphocyte subset repertoires are biased and reflect clinical features in patients with dermatomyositis. (2018)
  • Author(s): Sasaki H, Takamura A, Kawahata K, Takashima T, Imai K, Morio T, Kohsaka H
  • Journal Title: Scandinavian journal of rheumatology Volume: 5 Issue: 3 Pages: 1-5
  • DOI: 10.1080/03009742.2018.1530371
  • Peer Reviewed
• [Journal Article] Hematopoietic Stem Cell Transplantation for Progressive Combined Immunodeficiency and Lymphoproliferation in Activated PI3K <delta> Syndrome Type 1 (2018)
  • Author(s): Okano T, Imai K, ..., Nonoyama S, Morio T. et al.
  • Journal Title: J Allergy Clin Immunol Volume: 印刷中 Issue: 1 Pages: 266-275
  • DOI: 10.1016/j.jaci.2018.04.032
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1 (2018)
  • Author(s): Tamura A, Uemura S, Yamamoto N, Saito A, Kozaki A, Kishimoto K, Ishida T, Hasegawa D, Hiroki H, Okano T, Imai K, Morio T, Kanegane H, Kosaka Y.
  • Journal Title: Allergy Asthma Clin Immunol Volume: 14 Issue: 1 Pages: 82-82
  • DOI: 10.1186/s13223-018-0306-1
  • NAID: 120006818739
  • Peer Reviewed / Open Access
• [Journal Article] Are naive T cells and class-switched memory (IgD- CD27+) B cells not essential for establishment and maintenance of pregnancy? Insights from a case of common variable immunodeficiency with pregnancy. (2018)
  • Author(s): Shigeta Naoya、Nakamura Hitomi、Kumasawa Keiichi、Imai Kohsuke、Saito Shigeru、Sakaguchi Shimon、Kimura Tadashi
  • Journal Title: Medical Hypotheses Volume: 121 Pages: 36-41
  • DOI: 10.1016/j.mehy.2018.09.014
  • Peer Reviewed / Open Access
• [Journal Article] Long-Term Efficacy and Safety of Hizentra in Patients with Primary Immunodeficiency in Japan, Europe, and the United States: a Review of 7 Phase 3 Trials (2018)
  • Author(s): Jolles S, Rojavin MA, Lawo JP, Nelson R Jr, Wasserman RL, Borte M, Tortorici MA, Imai K, Kanegane H
  • Journal Title: J Clin Immunol Volume: 38 Issue: 8 Pages: 864-865
  • DOI: 10.1007/s10875-018-0560-5
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Clinical and Immunological Characterization of ICF Syndrome in Japan (2018)
  • Author(s): Kamae C, Imai K, Kato T, Okano T, Honma K, Nakagawa N, Yeh TW, Noguchi E, Ohara A, Shigemura T, Takahashi H, Takakura S, Hayashi M, Honma A, Watanabe S, Shigemori T, Ohara O, Sasaki H, Kubota T, Morio T, et al.
  • Journal Title: J Clin Immunol Volume: 38 Issue: 8 Pages: 927-937
  • DOI: 10.1007/s10875-018-0559-y
  • Peer Reviewed
• [Journal Article] B-lymphoblastic lymphoma with TCF3-PBX1 fusion gene (2018)
  • Author(s): Kubota-Tanaka M, Osumi T, Miura S, Tsujimoto H, Imamura T, Nishimura A, Oki K, Nakamura K, Miyamoto S, Inoue K, Inoue M, Kamiya T, Yanagimachi M, Okano T, Mitsuiki N, Isoda T, Imai K, Kanegane H, Morio T, Kounami S, Endo M, Kato M, Takagi M
  • Journal Title: Haematologica Volume: 104 Issue: 1 Pages: e35-e37
  • DOI: 10.3324/haematol.2018.199885
  • Peer Reviewed / Open Access
• [Journal Article] Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India (2018)
  • Author(s): Rawat Amit、Mathew Babu、Pandiarajan Vignesh、Jindal Ankur、Sharma Madhubala、Suri Deepti、Gupta Anju、Goel Shubham、Karim Adil、Saikia Biman、Minz Ranjana W.、Imai Kohsuke、Nonoyama Shigeaki、Ohara Osamu、Giliani Silvia Clara、Notarangelo Luigi D.、Chan Koon-Wing、Lau Yu-Lung、Singh Surjit
  • Journal Title: Clinical Immunology Volume: 195 Pages: 59-66
  • DOI: 10.1016/j.clim.2018.07.013
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] High frequencies of asymptomatic Epstein-Barr virus viremia in affected and unaffected individuals with CTLA4 mutations. (2018)
  • Author(s): Hoshino A, Tanita K, Kanda K, Imadome K, Shikama Y, Yasumi T, Imai K, Takagi M, Morio T, Kanegane H.
  • Journal Title: Clin Immunol Volume: 195 Pages: 45-48
  • DOI: 10.1016/j.clim.2018.07.012
  • Peer Reviewed
• [Journal Article] Hematopoietic cell transplantation for myeloid/NK cell precursor acute leukemia in second remission (2018)
  • Author(s): Noguchi Yusuke、Tomizawa Daisuke、Hiroki Haruka、Miyamoto Satoshi、Tezuka Mari、Miyawaki Reiji、Tanaka-Kubota Mari、Okano Tubasa、Kobayashi Chika、Mitsuiki Noriko、Aoki Yuki、Imai Kohsuke、Kajiwara Michiko、Kanegane Hirokazu、Morio Tomohiro、Takagi Masatoshi
  • Journal Title: Clinical Case Reports Volume: 6 Issue: 6 Pages: 1023-1028
  • DOI: 10.1002/ccr3.1506
  • Peer Reviewed
• [Journal Article] Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing (2018)
  • Author(s): Ono S, Nakayama M, Kanegane H, Hoshino A, Shimodera S, Shibata H, Fujino H, Fujino T, Yunomae Y, Okano T, Yamashita M, Yasumi T, Izawa K, Takagi M, Imai K, Zhang K, Marsh R, Picard C, Latour S, Ohara O, et al.
  • Journal Title: Int J Hematol Volume: 108 Issue: 3 Pages: 319-328
  • DOI: 10.1007/s12185-018-2475-6
  • Peer Reviewed
• [Journal Article] Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease (2018)
  • Author(s): Tanaka-Kubota M, Shinozaki K, Miyamoto S, Yanagimachi M, Okano T, Mitsuiki N, Ueki M, Yamada M, Imai K, Takagi M, Agematsu K, Kanegane H, Morio T
  • Journal Title: Int J Hematol Volume: 5 Issue: 5 Pages: 610-614
  • DOI: 10.1007/s12185-017-2375-1
  • Peer Reviewed
• [Journal Article] Type 1 diabetes mellitus associated with activated phosphatidylinositol 3-kinase delta syndrome, type 2 (2018)
  • Author(s): Nakagawa R, Takasawa K, Yeh TW, Imai K, Kashimada K, Morio T
  • Journal Title: J Diabetes Volume: 5 Issue: 5 Pages: 421-422
  • DOI: 10.1111/1753-0407.12638
  • Peer Reviewed
• [Journal Article] Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects (2018)
  • Author(s): Schwab C, Gabrysch A, Olbrich P, Pati&ntilde;o V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, et al.
  • Journal Title: J Allergy Clin Immunol Volume: 142 Issue: 6 Pages: 1932-1946
  • DOI: 10.1016/j.jaci.2018.02.055
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Dysregulation of Epstein-Barr virus infection in hypomorphic ZAP70 mutation (2018)
  • Author(s): Hoshino A,Takashima T, Yoshida K, Morimoto A, Kawahara Y, Yeh TW, Okano T, Yamashita M, Mitsuiki N, Imai K, Sakatani T, Nakazawa A, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S,Ogawa S, Kojima S, Morio T, Kanegane H
  • Journal Title: J Infect Dis Volume: 印刷中 Issue: 5 Pages: 825-834
  • DOI: 10.1093/infdis/jiy231
  • Peer Reviewed / Open Access
• [Journal Article] Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases (2018)
  • Author(s): Okano Tsubasa、Tsujita Yuki、Kanegane Hirokazu、Mitsui-Sekinaka Kanako、Tanita Kay、Miyamoto Satoshi、Yeh Tzu-Wen、Yamashita Motoi、Terada Naomi、Ogura Yumi、Takagi Masatoshi、Imai Kohsuke、Nonoyama Shigeaki、Morio Tomohiro
  • Journal Title: Journal of Clinical Immunology Volume: 38 Issue: 3 Pages: 300-306
  • DOI: 10.1007/s10875-018-0497-8
  • Peer Reviewed
• [Journal Article] Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome (2018)
  • Author(s): Asano Takaki、Okada Satoshi、Tsumura Miyuki、Yeh Tzu-Wen、Mitsui-Sekinaka Kanako、Tsujita Yuki、Ichinose Youjiro、Shimada Akira、Hashimoto Kunio、Wada Taizo、Imai Kohsuke、Ohara Osamu、Morio Tomohiro、Nonoyama Shigeaki、Kobayashi Masao
  • Journal Title: Frontiers in Immunology Volume: 9 Pages: 568-568
  • DOI: 10.3389/fimmu.2018.00568
  • NAID: 120006473827
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. (2018)
  • Author(s): Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Kawai T, Hiejima E, Takagi M, Imai K, Nishikomori R, Ito S, Heike T, Ohara O, Morio T, Fukao T, Kanegane H.
  • Journal Title: J Allergy Clin Immunol Volume: 141 Issue: 4 Pages: 1485-1488
  • DOI: 10.1016/j.jaci.2017.10.039
  • 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
• [Presentation] How I Approach A Patient With Combined Immunodeficiency? (2020)
  • Author(s): Imai K
  • Organizer: 3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies.
  • Int'l Joint Research / Invited
• [Presentation] Hematopoietic stem cell transplantation in PIDs (2020)
  • Author(s): Imai K
  • Organizer: 3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies.
  • Int'l Joint Research / Invited
• [Presentation] Viral infections in patients with hypogammaglobulinemia (2020)
  • Author(s): Imai K
  • Organizer: 3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies.
  • Int'l Joint Research / Invited
• [Presentation] An intractable case of hyper IgE syndrome. (2020)
  • Author(s): Tomoda T, Okano T, Inoue K, Yamashita M, Kamiya T, Isoda T, Yanagimachi, M Kanegane H, Takagi M, Morio T, Imai K.
  • Organizer: 3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies
  • Int'l Joint Research / Invited
• [Presentation] Second transplantation rescued the graft failure after hematopoietic stem cell transplantation for a case of activated PI3K-delta syndrome type 2 (2020)
  • Author(s): Tomoda T, Okano T, Inoue K, Yamashita M, Kamiya T, Isoda T, Yanagimachi, M Kanegane H, Takagi M, Morio T, Imai K.
  • Organizer: 3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies.
  • Int'l Joint Research / Invited
• [Presentation] Somatically reverted T cells in dedicator of cytokinesis 8 deficiency modify cellular immunity (2020)
  • Author(s): Okamura M, Tanita K, Takada H, Mitsui T,Minegishi Y,Imai K,Morio T, Kanegane H.
  • Organizer: 3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies
  • Int'l Joint Research / Invited
• [Presentation] The first Cernunnos deficiency patient in Japan. (2020)
  • Author(s): Okamura M, Terada N, Mitsuiki N, Ishii T, Morio T, Imai K
  • Organizer: 3rd Scientific Congress of Asia Pacific Society for Immunodeficiencies
  • Int'l Joint Research / Invited
• [Presentation] Japanese experience with UCBT in SCID (2020)
  • Author(s): Miyamoto T, Imai K
  • Organizer: IEWP of EBMT
  • Int'l Joint Research / Invited
• [Presentation] 非悪性疾患を対象とした移植後シクロフォスファミドと抗胸腺グロブリンを併用したGVHD予防法によるHLA不一致血縁者間造血幹細胞移植の多施設共同前方視的臨床試験: Haplo-NM. (2020)
  • Author(s): 加藤元博, 大隅朋生, 富澤大輔, 内山徹, 佐古、あゆみ, 井上永介, 瀧本哲也, 石川尊士, 河合利尚, 竹内一郎, 山田全毅, 出口隆生, 今井耕輔, 湯坐有希, 新井勝大, 今留謙一, 金兼弘和, 小野寺雅史, 松本公一
  • Organizer: 第3回日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] Cancer development in a Korean family with CTLA-4 haploinsufficiency (2020)
  • Author(s): Yoonsun Yoon, Ji-man Kang, Junsik Choi, Kangmo Ahn, Keon Hee Yoo, Eun-Suk Kang, Kyoung-Mee Kim, Jung Eun Lee, Geum-Youn gawk, Kihyun Kim, Kosuke Imai, Hirokazu Kanegane, Yae-jean Kim.
  • Organizer: 第3回日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] 活性化PI3Ｋ-delta症候群5例に対する造血細胞移植経験 (2020)
  • Author(s): 友田昂宏、岡野翼、森田俊平、西島暁彦、井上健斗、山下基、神谷尚宏、磯田健志、山本正英、柳町昌克、高木正稔、金兼弘和、今井耕輔、森尾友宏
  • Organizer: 第3回日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] 冠動脈病変による心筋梗塞を契機に診断したA20ハプロ不全症の一成人例 (2020)
  • Author(s): 庭野智子、細矢匡、溝口史高、今井耕輔、森尾友宏、小池竜司
  • Organizer: 第3回日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] 本邦初の常染色体劣性遺伝STAT1完全欠損症 (2020)
  • Author(s): 坂田園子、岡田賢、松林正、玉浦萌、津村弥来、唐川修平、岡野翼、今井耕輔、森尾友宏、Jean-Laurent Casanova、小林正夫
  • Organizer: 第3回日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] アトピー性皮膚炎と易感染症を呈し、CARD11変異が同定された2症例 (2020)
  • Author(s): 岡本圭祐、岡野翼、渡部眞仁、Tzu-Wen Yeh、大谷智子、野老翔雲、岡田賢、今井耕輔、森尾友宏
  • Organizer: 第3回日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] イカロス欠損症に合併した関節リウマチに対しアバタセプトを用いて寛解導入した一例 (2020)
  • Author(s): 吉村大、河野通仁、菅原正成、蜷川慶太、柴田悠平、藤枝雄一郎、加藤将、奥健志、アメングアル オルガ、保田晋助、山中純子、岡野翼、今井耕輔、森尾友宏、渥美達也
  • Organizer: 第3回日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] 原発性免疫不全症に対する保険診療による遺伝子検査175例についての検討 (2020)
  • Author(s): 谷田けい、今井耕輔、岡野翼、成戸卓也、甲畑宏子、岡田賢、高木正稔、金兼弘和、森尾友宏
  • Organizer: 第3回日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] Plasmacytoma-Like Post-Transplant Lymphoproliferative Disorder with Multiple Autoantibodies in a XIAP Deficient Patient (2019)
  • Author(s): Hoshino A, Okano T, Matsumoto K, Nishimura A, Shintaku H, Tokoro S, Okamoto H, Wada T, Mitsuiki N, Kajiwara M, Takagi M, Imai K, Kanegane H, Morio T
  • Organizer: 19th Biennial Meeting of the European Society of Immunodeficiencies
  • Int'l Joint Research
• [Presentation] Diagnostic Approach by Whole Exome Sequencing for 141 Patients of Inborn Errors of Immunity (2019)
  • Author(s): Okano T, Imai K, Naruto T, Okada S, Okamoto K, Yamashita M, Yeh T. W, Takagi M, Kanegane H, Morio T
  • Organizer: 19th Biennial Meeting of the European Society of Immunodeficiencies
  • Int'l Joint Research
• [Presentation] The First Intronic Mutations Which Caused Autosomal Recessive Complete STAT1 Deficiency (2019)
  • Author(s): Sakata S, Okada S, Matsubayashi T, Tamaura M, Tsumura M, Okano T, Imai K, Bustamante J, Morio T, Casanova JL, Kobayashi M.
  • Organizer: 19th Biennial Meeting of the European Society of Immunodeficiencies
  • Int'l Joint Research
• [Presentation] 自動核酸抽出機・TREC/KREC同時測定キットによるPIDスクリーニングの基礎検討 (2019)
  • Author(s): 花井潤師,田中稔泰,山田雅文,今井耕輔
  • Organizer: 第46回日本マススクリーニング学会
  • Invited
• [Presentation] TRECとKRECを用いた重症原発性免疫不全症に対する新生児スクリーニングの実現に向けて (2019)
  • Author(s): 今井耕輔
  • Organizer: 第46回日本マススクリーニング学会
  • Invited
• [Presentation] 免疫不全患者に対するマルチプレックスPCR法を用いた呼吸器感染症早期診断の臨床的有用性の検討 (2019)
  • Author(s): 遠藤明史,今井耕輔,井上健斗,岡野翼,清水則夫,寺田尚美,森下あおい,友田昴宏,山下基,柳田昌克,磯田健志,神谷尚宏,髙木正稔,金兼弘和,森尾友宏
  • Organizer: 第51回日本小児・感染症学会
  • Invited
• [Presentation] X連鎖無ガンマグロブリン症患者におけるHelicobacter cinaedi感染症 (2019)
  • 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51回日本小児・感染症学会
  • Invited
• [Presentation] Down-regulation of protein translation by OAS1 missense mutants and the pathogenesis of human OAS1 related pulmonary alveolar proteinosis with hypogammaglobulinemia (2019)
  • Author(s): Tsubasa Okano、Eri Kumaki-Matsumoto、Makoto Otsu、Kohsuke Imai、Tomohiro Morio
  • Organizer: 第48回日本免疫学会総会学術集会
• [Presentation] GATA2異常症に伴うMDSに対するAzacitidineの有効性 (2019)
  • Author(s): Issei Nunoda, Takahiro Tmoda, Takahiro Kmiya, Tsubasa Okano, Maho Hatano, Yuri Yoshimoto, Hideki Muramatu, Aoi Morishita, Kento Inoue, Motoi Yamashita, Akifumi Endo, Masakatsu Yanagimachi, Takeshi Isoda, Hirokazu Kanegane, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio
  • Organizer: 第61回日本小児血液・がん学会学術集会
• [Presentation] 急性骨髄性白血病からT細胞型急性リンパ性白血病へclonal evolutionを起こしたMLL-AF9陽性乳児白血病の一例 (2019)
  • Author(s): Takahiro Tomoda, Akira Nishimura, Rintaro Ono, Takeshi Isoda, Maiko Inoue, Takahiro Kamiya, Masakatsu Yanagimachi, Kohsuke Imai, Hirokazu Kanegane, Daisuke Hasegawa, Tomohiro Morio, Atsushi Manabe, Masatoshi Takagi
  • Organizer: 第61回日本小児血液・がん学会学術集会
• [Presentation] 非血縁者間骨髄移植後早期にバンコマイシン自然耐性腸球菌性髄膜炎に罹患した活性型P13Kδ症候群2型の1例 (2019)
  • Author(s): Maho Hatano, Takahiro Tomoda, Tsubasa Okano, Issei Nunoda, Aoi Morishita, Kento Inoue, Motoi Yamashita, Akifumi Endo, Takahiro Kamiya, Takeshi Isoda, Masakatsu Yanagimachi, Masatoshi Takagi, Hirokazu Kanegane, Keisuke Okuno, Kohsuke Imai, Tomohiro Morio
  • Organizer: 第61回日本小児血液・がん学会学術集会
• [Presentation] ドナーリンパ球輸注により寛解導入及び１年間の寛解を維持できた再発性T細胞型急性リンパ性白血病症例 (2019)
  • Author(s): 井上健斗, 神谷尚宏, 井上真依子, 星野顕宏, 磯田健志, 柳町昌克, 今井耕輔, 金兼弘和, 高木正稔, 森尾友宏
  • Organizer: 第61回日本小児血液・がん学会学術集会
• [Presentation] Wiskott-Aldrich症候群における血小板輸血不応に対する各種治療薬の効果と安全性の検討 (2019)
  • Author(s): 松本和明, 西村聡, 井上真依子, 井上健斗, 廣木遥, 小野真太郎, 岡野翼, 田中真理, 足洗美穂, 宮本智史, 宮脇零士, 山岸千佳, 手束真理, 大川哲平, 星野顕宏, 遠藤明史, 神谷尚宏, 青木由貴, 満生紀子, 小野敏明, 柳町昌克, 磯田健志, 富澤大輔, 長澤正之, 梶原道子, 高木正稔, 金兼弘和, 今井耕輔, 森尾友宏
  • Organizer: 第61回日本小児血液・がん学会学術集会
• [Presentation] B前駆細胞性急性リンパ性白血病の移植後再発に対して、GVHDの治療を行いながらBlinatumomabを使用した一例 (2019)
  • Author(s): 森下あおい, 磯田健志, 山下基, 神谷尚宏, 岡野翼, 友田昂宏, 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61回日本小児血液・がん学会学術集会
• [Presentation] 骨髄移植後のIgG2選択的低値時に発症した侵襲性肺炎球菌感染症 (2019)
  • Author(s): 坂川由里歌, 友田昂宏, 岡野翼, 森下あおい, 井上健斗, 山下基, 遠藤明史, 磯田健志, 神谷尚宏, 柳町昌克, 高木正稔, 金兼弘和, 今井耕輔, 竹下健一, 石和田稔彦, 森尾友宏
  • Organizer: 第61回日本小児血液・がん学会学術集会
• [Presentation] 免疫不全患者に対するマルチプレックスPCR法を用いた呼吸器感染症早期診断の臨床的有用性の検討 (2019)
  • Author(s): 遠藤明史,今井耕輔,井上健斗,岡野翼,清水則夫,寺田尚美,森下あおい,友田昴宏,山下基,柳田昌克,磯田健志,神谷尚宏,髙木正稔,金兼弘和,森尾友宏
  • Organizer: 第61回日本小児血液・がん学会学術集会
• [Presentation] ウィスコット・アルドリッチ症候群の保因者診断を主とした遺伝カウンセリングの経験 (2019)
  • Author(s): 江川真希子,小峯真理子,辰巳嵩征,高峰えりこ,高橋沙矢子,甲畑宏子,今井耕輔,高木正稔,江花有亮,吉田正幸
  • Organizer: 日本人類遺伝学会第64回大会
• [Presentation] 原発性免疫不全症に対する保険診療による遺伝子検査140例についての検討 (2019)
  • Author(s): 谷田けい, 今井耕輔, 岡野翼, 成戸卓也, 甲畑宏子, 岡田賢, 高木正稔, 金兼弘和, 森尾友宏
  • Organizer: 日本人類遺伝学会第64回大会
• [Presentation] B前駆細胞性急性リンパ性白血病の移植後再発に対して、Blinatumomab、ドナーリンパ球輸注、Inotuzumab ozogamicinを使用した後、post-transplant cyclophosphamideを用いて、HLA半合致移植を行った一例 (2019)
  • Author(s): 森下あおい,山下基,磯田健志,友田昴宏,岡野翼,神谷尚宏,柳町昌克,今井耕輔,金兼弘和,高木正稔,森尾友宏
  • Organizer: 第25回小児血液・SCT研究会
• [Presentation] 原発性免疫不全症と免疫療法 (2019)
  • Author(s): 岡本圭祐,柳町昌克,今井耕輔,森尾友宏
  • Organizer: 第47回日本臨床免疫学会
• [Presentation] GVHD治療中再発の難治性ALLに対するブリナツモマブ、イノツズマブオゾガマイシンの使用経験 (2019)
  • Author(s): 山下基,磯田健志,森下あおい,神谷尚宏,岡野翼,友田昴宏,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11回日本血液疾患免疫療法学会学術集会
• [Presentation] ベドリズマブが奏功した難治性Crohn病様腸管GVHD (2019)
  • Author(s): 布田一生、岡野翼、友田昴宏、神谷尚宏、柳町昌克、長堀正和、大塚和朗、高木正稔、金兼弘和、今井耕輔、森尾友宏
  • Organizer: 第10回関東甲越免疫不全症研究会
• [Presentation] KBG症候群はDandy-Walker variantを合併する (2019)
  • Author(s): 水野朋子, 山内泰輔, 鈴木智典, 鹿島田彩子, 岡野翼, 今井耕輔, 高木正稔, 野村莉紗, 渡辺章充
  • Organizer: 第61回日本小児神経学会学術集会
• [Presentation] 腸管気腫を来した血液腫瘍性疾患・原発性免疫不全症の5例 (2019)
  • Author(s): 西村聡,足洗美穂,神谷尚宏,山本俊亮,山本薫,友田昴宏,井上真依子,井上健斗,宮本智史,小野林太郎,平林真介,磯田健志,柳町昌克,細谷要介,長谷川大輔,今井耕輔,高木正稔,金兼弘和,真部淳,森尾友宏
  • Organizer: 第122回日本小児科学会
• [Presentation] 本邦におけるICF症候群の臨床的および免疫学的検討 (2019)
  • Author(s): 釜江智佳子,今井耕輔,加藤環,岡野翼,本間健一,中川紀子,野口恵美子,久保田健夫,森尾友宏,金兼弘和,野々山恵章
  • Organizer: 第122回日本小児科学会
• [Presentation] 悪性リンパ腫に対して化学療法を行った母体から出生し、低グロブリン血症を呈した児の1例 (2019)
  • Author(s): 伊藤一之,早田茉莉,箕面崎至宏,今井耕輔,森尾友宏
  • Organizer: 第122回日本小児科学会
• [Presentation] 小児交互性片麻痺・難治性てんかんに合併した低ガンマグロブリン血症 (2019)
  • Author(s): 有働みどり,羽賀洋一,松岡正樹,徳山美香,高橋浩之,清水教一,松裏裕行,館野昭彦,今井耕輔,根津敦夫
  • Organizer: 第122回日本小児科学会
• [Presentation] 造血細胞移植後に生じた腸管気腫症に対して間欠的酸素投与が有効であった3例 (2019)
  • Author(s): 足洗美穂, 西村聡, 神谷尚宏, 山本俊亮, 小野林太郎, 友田昴宏, 山本薫, 井上健斗, 井上真依子, 廣木遥, 宮本智史, 星野顕宏, 梅原直, 平林真介, 岡本健太郎, 柳町昌克, 磯田健志, 細谷要介, 長谷川大輔, 今井耕輔, 高木正稔, 金兼弘和, 森尾友宏, 真部淳
  • Organizer: 第41回日本造血細胞移植学会総会
• [Presentation] 慢性肉芽腫症に対する造血細胞移植成績に及ぼす遺伝子型の影響（JSHCTとPIDJ データ解析より） (2019)
  • Author(s): 柳町昌克,布井博幸,水上智之,西村豊樹,佐々木康二,清谷知賀子,康勝好,井口晶裕,田淵健,井上雅美,加藤剛二,今井耕輔,矢部普正,小林正夫,森尾友宏
  • Organizer: 第41回日本造血細胞移植学会総会
• [Presentation] 非腫瘍性疾患に対する同種造血幹細胞移植においてGVHD が治療成績に与える影響 (2019)
  • Author(s): 梅田雄嗣,今井耕輔,柳町昌克,矢部普正,川口浩史,高橋義行,梶原道子,井上雅美,橋井佳子,熱田由子,森尾友宏
  • Organizer: 第41回日本造血細胞移植学会総会
• [Presentation] 原発性免疫異常症の遺伝子診断：PIDJ ver.2 (2019)
  • Author(s): 今井耕輔
  • Organizer: 第2回 日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] 高IgE血症を伴う難治性下痢から診断し造血細胞移植で根治したIPEX症候群 (2019)
  • Author(s): 矢田裕太郎,江口克秀,石村匡崇,幸伏寛和,長谷川一太,白石 暁,古賀大介,西 眞範,今 井耕輔,金兼弘和,大賀正一
  • Organizer: 第2回 日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] 原発性免疫不全症に対するフルダラビン・ブスルファンとフルダラビン・メルファランの強度減弱前処置による造血細胞移植 (2019)
  • Author(s): 西村聡, 青木由貴, 石渡泰芳, 井上真依子, 市村卓也, 上山潤一, 松本和明, 井上健斗, 廣木遥, 小野真太郎, 岡野翼, 田中真理, 足洗美穂, 宮本智史, 宮脇零士, 山岸千佳, 手束真理, 大川哲平, 星野顕宏,今井耕輔、他
  • Organizer: 第2回 日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] APRIL deficiency as a cause of common variable immunodeficiency (2019)
  • Author(s): Yeh TW, Okano T, Okamoto K, Yamashita M, Takashima T, Mitsuiki N, Okada S, Kanegane H, Imai
  • Organizer: 第2回 日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] Multicolor flow cytometryによるA20ハプロ不全症患者のリンパ球サブセット の解析 (2019)
  • Author(s): 門脇朋範,大西秀典,金兼弘和,川本典生,堀 友博,今井耕輔,深尾敏幸
  • Organizer: 第2回 日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] 成人期に達し遅発型複合免疫不全症に移行したNFKB1異常症に対する同種造血幹細胞移植 (2019)
  • Author(s): 奥廣有喜,山崎夏維,谷村一輝,比良洸太,仁谷千賀,岡田恵子,藤崎弘之,岡本圭祐,岡 田 賢,重水大智,今井耕輔,森尾友宏,原 純一
  • Organizer: 第2回 日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] 新たに診断した残存活性を有する遺伝性葉酸吸収不全症例と既報3症例との比較検討 (2019)
  • Author(s): 戸澤雄介,Abdrabou Shimaa,野川奈津子,西内津雄,石田敏章,佐野秀樹,鈴木雄一,小林良二,小原收,成戸卓也,今井耕輔,小林邦彦,有賀正,山田雅文
  • Organizer: 第2回 日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] 皮膚生検で著名なランゲルハンス細胞浸潤を認めた新規IL2RG変異Omenn症候群 (2019)
  • Author(s): 西川拓明, 指宿敦子, 今井耕輔, 金兼弘和, 河野嘉文
  • Organizer: 第2回 日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] BTK転写調節の異常によるX連鎖無ガンマグロブリン血症の3家系 (2019)
  • Author(s): 石橋佑脩、岡野翼、谷田けい、磯田健志、小林法元、藤原享志、座波清誉、野々山恵章、今井耕輔、森尾友宏、金兼弘和
  • Organizer: 第2回 日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] 複合免疫不全症としてのICF症候群 (2019)
  • Author(s): 釜江智佳子、今井耕輔、加藤環、岡野翼、本間健一、中川紀子、Yeh Tzuwen、野口恵美子、小原収、佐々木裕之、久保田健夫、森尾友宏、金兼弘和、野々山恵章
  • Organizer: 第2回 日本免疫不全・自己炎症学会総会・学術集会
• [Presentation] Antibody deficiency: a diagnostic and management challenge (2018)
  • Author(s): Imai K
  • Organizer: APSID Autumn School
  • Int'l Joint Research / Invited
• [Presentation] Hematopoietic stem cell transplantation for primary immunodeficiency in Japan (2018)
  • Author(s): Imai K
  • Organizer: KSPHO(韓国小児科学会)
  • Int'l Joint Research / Invited
• [Presentation] Newborn Screening for primary immunodeficiency (PID) in Japan and Asia.European Society for Blood and Marrow Transplantation (2018)
  • Author(s): Imai K
  • Organizer: IEWP(欧州骨髄移植学会及び欧州免疫不全症先天性疾患ワーキンググループ）
  • Int'l Joint Research
• [Presentation] PIDJ: primary immunodeficiency in Japan project (2018)
  • Author(s): Imai K
  • Organizer: 2018 Samsung Medical Center Primary Immunodeficiency Symposium
  • Int'l Joint Research / Invited
• [Presentation] Newborn Screening of PID in Japan (2018)
  • Author(s): Imai K
  • Organizer: 7th Singapore Paediatric and Perinatal Annual Congress (SiPPAC)
  • Int'l Joint Research / Invited
• [Presentation] Primary Antibody Deficiencies (2018)
  • Author(s): Imai K
  • Organizer: 7th Singapore Paediatric and Perinatal Annual Congress (SiPPAC)
  • Int'l Joint Research / Invited
• [Presentation] PID research and clinical care in Japan (2018)
  • Author(s): Imai K
  • Organizer: The 2nd Scientific Congress of Asia-Pacific Society for lmmunodeficiencies (APSID)
  • Int'l Joint Research / Invited
• [Presentation] Hematopoietic stem cell transplantation for radiosensible severe combined immunodeficiency (2018)
  • Author(s): Imai K
  • Organizer: APSID 2018 Summer School
  • Int'l Joint Research / Invited
• [Presentation] April Deficiency as a Cause of Common Variable Immunodeficiency (2018)
  • Author(s): Yeh T. W, Okano T, Okamoto K, Yamashita M, Takashima T, Mitsuki N, Okada S, Kanegane H, Imai K, Morio T
  • Organizer: 18th Biennial Meeting of the European Society of Immunodeficiencies
  • Int'l Joint Research
• [Presentation] Whole exome sequence analysis using the known and candidate genes for primary immunodeficiency diseases (2018)
  • Author(s): Okamoto K, Shigemizu D, Okano T, Yeh TW, Takashima T, Yamashita M, Ono S, Mitsuiki N, Takagi M, Mori M, Kanegane H, Tsunoda T, Imai K, Morio T
  • Organizer: The 2nd APSID Scientific Congress
  • Int'l Joint Research
• [Presentation] APRIL deficiency as a cause of common variable immunodeficiency (2018)
  • Author(s): Yeh TW, Okano T, Okamoto K, Yamashta M, Takashima T, Mitusiki N, Okada S, Kaneganwe H, Imai K, Morio T
  • Organizer: The 2nd APSID Scientific Congress
  • Int'l Joint Research
• [Presentation] Diagnostic network of PID in Japan:PIDJ netwaork (2018)
  • Author(s): Imai K
  • Organizer: 第50回日本小児感染症学会
  • Invited
• [Presentation] 免疫不全の新生児マススクリーニング (2018)
  • Author(s): 今井耕輔
  • Organizer: 第121回日本小児科学会学術集会
  • Invited
• [Presentation] Atypical SIFD patient without sideroblastic anemia with novel TRNT1 mutations: studies on molecular pathogenesis of B cell deficiency and periodic fever. (2018)
  • Author(s): Kumaki E、Tanaka K、Imai K、Aoki-Nogami Y、Ishikawa F、Morio T
  • Organizer: 第47回日本免疫学会総会学術集会
• [Presentation] 家族歴により診断に至ったWiskott-Aldrich症候群（WAS)の新生児例 (2018)
  • Author(s): 岩永翔子,山内建,岩田はる香,四手井網則,滝敦子,今井耕輔
  • Organizer: 第63回日本新生児成育医学会・学術集会
• [Presentation] 早産児等における原発性免疫不全症新生児スクリーニング法の検討 (2018)
  • Author(s): 勝屋恭子,伊藤一之,藤田華子,宮原宏幸,早田茉莉,佐藤千穂,箕面崎至宏,奥起久子,滝敦子,森丘千夏子,今井耕輔
  • Organizer: 第63回日本新生児成育医学会・学術集会
• [Presentation] Hematopoietic stem cell transplantation for XIAP deficiency with chromosomally integrated human herpesvirus 6 (2018)
  • Author(s): Inoue k, Kamiya T, Miura H, Inoue M, Yanagimachi M, Park MJ, Imai K, Takagi M, Yoshikawa T, Kanegane H, Morio T
  • Organizer: 第50回日本小児感染症学会学術集会
• [Presentation] Cytomegalovirus laryngitis in primary combined immunodeficiency diseases (2018)
  • Author(s): Inoue M, Isoda T, Matsumoto K, Inoue K, Kamiya T, Yanagimachi M, Takagi M, Kanegane H, Imai K, Morio T
  • Organizer: 第50回日本小児感染症学会学術集会
• [Presentation] 自己免疫性疾患患者における原発性免疫不全症合併例の後方視的分析 (2018)
  • Author(s): 岡本圭祐, 森雅亮, 松井利浩, 溝口史高, 星野顕宏, 今井耕輔, 上阪等, 森尾友宏
  • Organizer: 第46回日本臨床免疫学会総会
• [Presentation] 同じ遺伝子変異で異なる臨床病型を認めたhypomorphic RAG1 mutationsによる複合型免疫不全症の兄弟例 (2018)
  • Author(s): 上島洋二, 磯部勉, 小倉友美, 谷田けい, 寺田尚美, 古市美穂子, 佐藤智, 菅沼栄介, 康勝好, 高木正稔, 今井耕輔, 野々山恵章, 森尾友宏, 金兼弘和
  • Organizer: 第46回日本臨床免疫学会総会
• [Presentation] 低線量放射線とT細胞除去が非腫瘍性疾患に対する骨髄非破壊的前処置を用いた造血細胞移植に与える影響 (2018)
  • Author(s): 梅田 雄嗣, 矢部 普正, 加藤 剛二, 今井 耕輔, 小林 正夫, 高橋 義行, 井上 雅美, 橋井 佳子, 熱田 由子, 森尾 友宏
  • Organizer: 第80回日本血液学会学術集会
• [Presentation] IgAおよびIgGサブクラス欠損症としてフォローされていたICF症候群の姉妹例 (2018)
  • Author(s): 本間あおい, 金兼弘和, 廣木遙, 岡野翼, 谷田けい, 今井耕輔, 高木正稔, 渡辺章充, 渡部誠一, 森尾友宏
  • Organizer: 第121回日本小児科学会学術集会
• [Presentation] 小児特発性ネフローゼ症候群患者の腎組織におけるToll様受容体発現の検討 (2018)
  • Author(s): 田中絵里子, 高木正稔, 今井耕輔, 森尾友宏
  • Organizer: 第121回日本小児科学会学術集会
• [Presentation] アダリムマブを含む多剤併用にて寛解を得た難治性腸管ベーチェット病の2歳女児 (2018)
  • Author(s): 毛利万里子,森雅亮、金森透、岡本圭祐、田中絵里子、今井耕輔、森尾友宏、岡本 健太郎
  • Organizer: 第121回日本小児科学会学術集会
• [Presentation] 重症複合免疫不全症及び毛細血管拡張性運動失調症の迅速遺伝子診断 (2018)
  • Author(s): 小倉 友美,加藤 環、Rawat Amit、釜江 智佳子、今井 耕輔、野々山 恵章
  • Organizer: 第121回日本小児科学会学術集会
• [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
• [Remarks] 「抗体産生不全症の原因遺伝子APRILを発見」【今井耕輔 寄附講座准教授】
  • URL: http://www.tmd.ac.jp/archive-tmdu/kouhou/20200423_2.pdf