Analysis of pathophysiology and identification of the causative gene(s) of primary immunodeficiency with B, NK, dendritic cell deficiency

• Project/Area Number: 23591561
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: IMAI KOHSUKE 東京医科歯科大学, 医歯(薬)学総合研究科, 准教授 (90332626)
• Co-Investigator(Kenkyū-buntansha): OSHIMA Koichi 京都大学, iPS細胞研究所, 特定研究員 (60525377) ; HIJIKATA Atsushi 独立行政法人理化学研究所, 免疫ゲノミクス研究グループ, リサーチアソシエイト (80415273)
• Project Period (FY): 2011 – 2013
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000); Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2012: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2011: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 原発性免疫不全症 / 樹状細胞分化 / B細胞分化 / NK細胞分化 / GATA2 / 骨髄異形成症候群 / ナイーブT細胞

Research Abstract

We identified 14 cases of GATA2 deficiency among B, NK, dendritic cell deficiency with hypogammaglobulinemia. We found that they have the defect of T cell differentiation from early to late phase (in submission). We developed induced pluripotent stem cells (iPSCs) from 2 cases of GATA2 deficiency. The efficiency of the establishment of iPSCs were the same as healthy controls. However induction efficiency from iPSCs into hematopoietic stem cells (HSCs) was poor in GATA2 deficiency, which is consistent with the previous finding that differentiation efficiency from the bone marrow derived CD34+ HSCs was poor. In vitro induction experiment into monocyte, macrophage and dendritic cells from iPSCs and the expression of transfer factors during the induction is ongoing.

Research Products

• [Journal Article] Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulinκ-deleting recombination excision circles (2013)
  • Author(s): Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, van Zelm MC, Morio T, Imai K, Nonoyama S.
  • Journal Title: J Allergy Clin Immunol Volume: 131(5) Pages: 1437-40
• [Journal Article] MonoMAC症候群(GATA2異常症) (2013)
  • Author(s): 本間健一,今井耕輔,金兼弘和,野々山恵章
  • Journal Title: 臨床免疫・アレルギー科 Volume: 4 Pages: 439-446
  • NAID: 40019836961
• [Journal Article] 新生児スクリーニングによる原発性免疫不全症の診断 (2013)
  • Author(s): 今井耕輔
  • Journal Title: 小児科臨床 Volume: 66 Pages: 1025-1032
• [Journal Article] TREC,KRECによる原発性免疫不全症のスクリーニング (2013)
  • Author(s): 今井耕輔
  • Journal Title: 小児内科 Volume: 45 Pages: 1148-1151
• [Journal Article] 免疫グロブリンクラススイッチ異常症(高IgM症候群) (2013)
  • Author(s): 今井耕輔
  • Journal Title: 日本臨床別冊 Volume: 22 Pages: 237-241
• [Journal Article] Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia (2013)
  • Author(s): Yoshimi A, Kamachi Y, Imai K, Watanabe N,Nakadate H, Kanazawa T, Hama A, Muramatsu H,Sasahara Y, Jakob M, Morio T, Ehl S, Manabe A,Niemeyer C, Kojima S.
  • Journal Title: Pediatr Blood Cancer Volume: 60 Pages: 836-41
• [Journal Article] Successful Treatment of Diffuse Large B-Cell Lymphoma in a Patient With Ataxia Telangiectasia Using Rituximab (2013)
  • Author(s): Machida S, Tomizawa D, Tamaichi H, Okawa T,Endo A, Imai K, Nagasawa M, Morio T, Mizutani S, Takagi M.
  • Journal Title: J Pediatr Hematol Oncol Volume: 35
• [Journal Article] Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency (2013)
  • Author(s): Kanegane H, Taneichi H, Nomura K, Wada T,Yachie A, Imai K, Ariga T, Santisteban I,Hershfield MS, Miyawaki
  • Journal Title: Pediatr Transplant Volume: 17
• [Journal Article] Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles (2013)
  • Author(s): Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarstrom Q, van Zelm MC, Morio T, Imai K, Nonoyama S
  • Journal Title: J Allergy Clin Immunol Volume: 131 Pages: 1437-40
  • Peer Reviewed
• [Journal Article] TREC,KRECによる原発性免疫不全症のスクリーニング (2013)
  • Author(s): 今井耕輔
  • Journal Title: 日本臨床 別冊 Volume: 22 Pages: 237-241
• [Journal Article] 免疫グロブリンクラススイッチ異常症(高IgM症候群) (2013)
  • Author(s): 今井耕輔
  • Journal Title: 日本臨床 別冊 Volume: 22 Pages: 237-241
• [Journal Article] Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin κ-deleting recombination excision circles. (2013)
  • Author(s): Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, van Zelm MC, Morio T, Imai K, Nonoyama S.
  • Journal Title: J Allergy Clin Immunol Volume: 131 Issue: 5 Pages: 1437-1440
  • DOI: 10.1016/j.jaci.2012.10.059
  • Peer Reviewed
• [Journal Article] Successful Treatment of Diffuse Large B-Cell Lymphoma in a Patient With Ataxia Telangiectasia Using Rituximab. (2013)
  • Author(s): Machida S, Tomizawa D, Tamaichi H, Okawa T, Endo A, Imai K, Nagasawa M, Morio T, Mizutani S, Takagi M.
  • Journal Title: J Pediatr Hematol Oncol Volume: -
  • Peer Reviewed
• [Journal Article] Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. (2013)
  • Author(s): Kanegane H, Taneichi H, Nomura K, Wada T, Yachie A, Imai K, Ariga T, Santisteban I, Hershfield MS, Miyawaki T.
  • Journal Title: Pediatr Transplant. Volume: 71 Issue: 1
  • DOI: 10.1111/j.1399-3046.2012.01762.x
  • Peer Reviewed
• [Journal Article] GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia (2012)
  • Author(s): Ishida H, Imai K, Honma K, Tamura S, Imamura T, Ito M, Nonoyama S.
  • Journal Title: Eur J Pediatr Volume: 171 Pages: 1273-6
• [Journal Article] Detection of base substitution-type somatic mosaicism of the NLRP3 gene with > 99.9% statistical confidence by massively parallel sequencing (2012)
  • Author(s): Izawa, K., Hijikata A., Tanaka, N., Kawai, T.,Saito, K.M.,Goldbach-Mansky, R.,Aksentijevich,I., Yasumi, T., Nakahata, T., Heike, T.,Nishikomori, R. & Ohara, O.
  • Journal Title: DNA Res Volume: 19 Pages: 143-152
• [Journal Article] Membrane-bound human SCF/KL promotes in vivo human hematopoietic engraftment and myeloiddifferentiation (2012)
  • Author(s): Takagi, S., Saito, Y., Hijikata A., anaka S, Watanabe T, Hasegawa T, Mochizuki S, Kunisawa J, Kiyono H, Koseki H, Ohara O, Saito T, Taniguchi S, Shultz LD, Ishikawa F.
  • Journal Title: Blood Volume: 119 Pages: 2768-2777
• [Journal Article] A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic Purpura (2012)
  • Author(s): Kawasaki Y, Toyoda H, Otsuki S, Iwasa T,Iwamoto S, Azuma E, Itoh-Habe N, Wada H,Fujimura Y, Morio T, Imai K, Mitsuiki N, Ohara O, Komada Y.
  • Journal Title: Eur J Haematol Volume: 90 Pages: 164-8
• [Journal Article] A Dual Reporter Splicing Assay Using HaloTag-containing Proteins (2012)
  • Author(s): Oshima K, Nagase T, Imai K, Nonoyama S, Obara M, Mizukami T, Nunoi H, Kanegane H, Kuribayashi F, Amemiya S, Ohara O.
  • Journal Title: Curr Chem Genomics Volume: 6 Pages: 27-37
• [Journal Article] Clinical and genetic characteristics of XIAP deficiency in Japan (2012)
  • Author(s): Yang X, Kanegane H, Nishida N, Imamura T,Hamamoto K, Miyashita R, Imai K, Nonoyama S, Sanayama K, Yamaide A, Kato F, Nagai K, Ishii E, van Zelm MC, Latour S, Zhao XD, Miyawaki T.
  • Journal Title: J Clin Immunol Volume: 32 Pages: 411-20
• [Journal Article] Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India (2012)
  • Author(s): Suri D, Singh S, Rawat A, Gupta A, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Bilhou-Nabera C.
  • Journal Title: Asian Pac J Allergy Immunol Volume: 30 Pages: 71-8
• [Journal Article] Endocrine complications in primary immunodeficiency diseases in Japan (2012)
  • Author(s): Nozaki T, Takada H, Ishimura M, Ihara K, Imai K, Morio T, Kobayashi M, Nonoyama S, Hara T.
  • Journal Title: Clin Endocrinol (Oxf) Volume: 77 Pages: 628-34
• [Journal Article] Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis (2012)
  • Author(s): Nakaoka H, Kanegane H, Taneichi H, Miya K,Yang X, Nomura K, Takezaki S, Yamada M, Ohara O, Kamae C, Imai K, Nonoyama S, Wada T, Yachie A, Hershfield MS, Ariga T, Miyawaki T.
  • Journal Title: Int J Hematol Volume: 95 Pages: 692-6
  • NAID: 10030793746
• [Journal Article] Heike Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient (2012)
  • Author(s): Kawai T, Saito M, Nishikomori R, Yasumi T, Izawa K, Murakami T, Okamoto S, Mori Y, Nakagawa N,Imai K, Nonoyama S, Wada T, Yachie A, Ohmori K, Nakahata T.
  • Journal Title: J Clin Immunol Volume: 32 Pages: 690-7
• [Journal Article] GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia (2012)
  • Author(s): Ishida H, Imai K, Homma K, Tamura S, Imamura T, Itoh M, Nonoyama S
  • Journal Title: Eur J Pediatr Volume: 171 Issue: 8 Pages: 1273-1276
  • DOI: 10.1007/s00431-012-1715-7
  • Peer Reviewed
• [Journal Article] A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura. (2012)
  • Author(s): Kawasaki Y, Toyoda H, Otsuki S, Iwasa T, Iwamoto S, Azuma E, Itoh-Habe N, Wada H, Fujimura Y, Morio T, Imai K, Mitsuiki N, Ohara O, Komada Y.
  • Journal Title: Eur J Haematol. Volume: 90 Issue: 2 Pages: 164-168
  • DOI: 10.1111/ejh.12057
  • Peer Reviewed
• [Journal Article] A dual reporter splicing assay using HaloTag-containing proteins. Curr Chem Genomics. (2012)
  • Author(s): Oshima K, Nagase T, Imai K, Nonoyama S, Obara M, Mizukami T, Nunoi H, Kanegane H, Kuribayashi F, Amemiya S, Ohara O.
  • Journal Title: Curr Chem Genomics. Volume: 6 Issue: 1 Pages: 27-37
  • DOI: 10.2174/1875397301206010027
  • Peer Reviewed
• [Journal Article] Clinical and genetic characteristics of XIAP deficiency in Japan. (2012)
  • Author(s): Yang X, Kanegane H, Nishida N, Imamura T, Hamamoto K, Miyashita R, Imai K, Nonoyama S, Sanayama K, Yamaide A, Kato F, Nagai K, Ishii E, Zelm M, Latour S, Zhao X, Miyawaki T.
  • Journal Title: J Clin Immunol. Volume: 32 Issue: 3 Pages: 411-420
  • DOI: 10.1007/s10875-011-9638-z
  • Peer Reviewed
• [Journal Article] Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. (2012)
  • Author(s): Suri D, Singh S, Rawat A, Gupta A, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Bilhou-Nabera C,
  • Journal Title: Asian Pac J Allergy Immunol Volume: 30 Pages: 71-8
  • Peer Reviewed
• [Journal Article] Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. (2012)
  • Author(s): Nakaoka H, Kanegane H, Taneichi H, Miya K, Yang X, Nomura K, Takezaki S, Yamada M, Ohara O, Kamae C, Imai K, Nonoyama S, Wada T, Yachie A, Hershfield MS, Ariga T, Miyawaki T.
  • Journal Title: Int J Hematol. Volume: 95 Issue: 6 Pages: 692-696
  • DOI: 10.1007/s12185-012-1055-4
  • NAID: 10030793746
  • Peer Reviewed
• [Journal Article] Multiple reversions of an IL2RG mutation restore combined immunodeficiency patient. (2012)
  • Author(s): Kawai T., Saito M., Nishikomori R., Yasumi T., Izawa K., Murakami T., Okamoto N., Mori Y., Nakagawa N., Imai K., Nonoyama S., Wada T., Yatie A., Oomori K., Nakahata T., Heike T.
  • Journal Title: J. Clin. Immunol Volume: 32(4) Issue: 4 Pages: 690-7
  • DOI: 10.1007/s10875-012-9684-1
  • Peer Reviewed
• [Journal Article] Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India (2012)
  • Author(s): Suri D, et al.
  • Journal Title: Asian Pac J Allergy Immunol Volume: 30 Pages: 71-78
  • Peer Reviewed
• [Journal Article] Membrane-bound human SCF/KL promotes in vivo human hematopoietic engraftment and myeloid differentiation. (2012)
  • Author(s): Takagi, S
  • Journal Title: Blood Volume: 119 Issue: 12 Pages: 2768-2777
  • DOI: 10.1182/blood-2011-05-353201
  • Peer Reviewed
• [Journal Article] Quantification ofκ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects (2011)
  • Author(s): Nakagawa N, Imai K,Kanegane H, Sato H,Yamada M, Kondoh K,Okada S, Kobayashi M, Agematsu K,Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarström Q, Hammarstrom L, Reichenbach J, Seger R, Ariga T, Hara T, Miyawaki T, Nonoyama S.
  • Journal Title: J Allergy Clin Immunol Volume: 128(e2) Pages: 223-225
• [Journal Article] Plasmacytoid dendritic cells are crucial for the initiation of inflammation and T cell immunity in vivo (2011)
  • Author(s): Takagi, H., Fukaya, T., Eizumi, K., Sato, Y.,Sato, K., Shibazaki, A., Otsuka, H., Hijikata A.,Watanabe, T., Ohara, O., Kaisho, T. & Malissen, B.
  • Journal Title: Immunity Volume: 35 Pages: 958-71
• [Journal Article] A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors (2011)
  • Author(s): Niwa A, Heike T, Umeda K, Oshima K, Kato I,Sakai H, Suemori H, Nakahata T, Saito MK.
  • Journal Title: PLoS One Volume: 6
  • NAID: 120003324603
• [Journal Article] ADA-SCID with 'WAZA-ARI' mutations that synergistically abolished ADA protein stability (2011)
  • Author(s): Okura Y, Yamada M, Kobayashi I, Santisteban I, Arredondo-Santisteban G, Kato Z, Iguchi A, Yoshida M, Ohara O, Nakagawa N, Imai K, Hershfield MS, Ariga T.
  • Journal Title: Br J Haematol Volume: 153 Pages: 675-676
• [Journal Article] Analysis of mutations and recombination activity in RAG-deficient patients (2011)
  • Author(s): Asai E, Wada T,Sakakibara Y, Toga A, Toma T, Shimizu T, Nampoothiri S,Imai K, Nonoyama S,Morio T, Muramatsu H, Kamachi Y, Ohara O, Yachie A.
  • Journal Title: Clin Immunol Volume: 138 Pages: 172-177
  • NAID: 120002772030
• [Journal Article] Revisiting gap locations in amino acid sequence alignments and a proposal for a method to improvethem by introducing solvent accessibility (2011)
  • Author(s): Hijikata A., Yura K., Noguti T. & Go M.
  • Journal Title: Proteins Volume: 79 Pages: 1868-77
• [Journal Article] The transcription factor E4BP4 regulates the production of IL-10 and IL-13 in CD4(+) T cells (2011)
  • Author(s): Motomura Y., Kitamura H., Hijikata A.,Matsunaga, Y., Matsumoto, K., Inoue, H.,Atarashi, K., Hori, S., Watarai, H., Zhu, J.,Taniguchi, M. & Kubo, M.
  • Journal Title: Nat Immunol Volume: 12 Pages: 450-9
• [Journal Article] The RIKEN integrated database of mammals (2011)
  • Author(s): Masuya H, Makita Y, Kobayashi N, Nishikata K, Yoshida Y, Mochizuki Y, Doi K, Takatsuki T, Waki K, Tanaka N, Ishii M, Matsushima A, Takahashi S, Hijikata A, Kozaki K, Furuichi T, Kawaji H, Wakana S, Nakamura Y, Yoshiki A, Murata T, Fukami-Kobayashi K, Mohan S, Ohara O, Hayashizaki Y, Mizoguchi R, Obata Y, Toyoda T.
  • Journal Title: Nucleic Acids Res
• [Journal Article] Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein (2011)
  • Author(s): Murata Y, Yasumi T, Shirakawa R, Izawa K, Sakai H, Abe J, Tanaka N, Kawai T, Oshima K, Saito M, Nishikomori R, Ohara O, Ishii E, Nakahata T, Horiuchi H, Heike T.
  • Journal Title: Blood Volume: 118 Pages: 1225-1230
• [Journal Article] Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan (2011)
  • Author(s): Hoshina T, Takada H, Sasaki-Mihara Y, Kusuhara K,Oshima K, Okada S, Kobayashi M, Ohara O,Hara T.
  • Journal Title: Clin Immunol Volume: 31 Pages: 309-314
• [Journal Article] Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome (2011)
  • Author(s): Mizuno T, Sakai H, Nishikomori R, Oshima K,Ohara O, Hata I, Shigematsu Y, Ishige T, Tamura K, Arakawa H.
  • Journal Title: Arthritis Rheum Volume: 63 Pages: 3625-3632
• [Journal Article] Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell (2011)
  • Author(s): Nakagawa N,…, Takada H, et al
  • Journal Title: J Allergy Clin Immunol Volume: 128 Issue: 1 Pages: 223-225
  • DOI: 10.1016/j.jaci.2011.01.052
  • Peer Reviewed
• [Journal Article] Revisiting gap locations in amino acid sequence alignments and a proposal for a method to improve them by introducing solvent accessibility (2011)
  • Author(s): Hijikata, A., Yura, K., Noguti, T. & Go, M.
  • Journal Title: Proteins Volume: 79 Issue: 6 Pages: 1868-77
  • DOI: 10.1002/prot.23011
  • Peer Reviewed
• [Journal Article] The RIKEN integrated database of mammals (2011)
  • Author(s): Masuya, H., Makita, Y., Kobayashi, N., et al.
  • Journal Title: Nucleic Acids Res Volume: 39 Issue: Database Pages: D861-D870
  • DOI: 10.1093/nar/gkq1078
  • Peer Reviewed
• [Journal Article] Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan (2011)
  • Author(s): Hoshina T, Takada H, et al
  • Journal Title: J Clin Immunol Volume: 31 Issue: 3 Pages: 309-314
  • DOI: 10.1007/s10875-010-9498-y
  • Peer Reviewed
• [Journal Article] A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors (2011)
  • Author(s): Niwa A, Heike T, Umeda K, et al.
  • Journal Title: PloS One Volume: 6 Issue: 7 Pages: e22261-e22261
  • DOI: 10.1371/journal.pone.0022261
  • NAID: 120003324603
  • Peer Reviewed
• [Journal Article] Novel mutations of MVK gene in Japanese family members affected with hyperimmunog lobulinemia D and periodic fever syndrome (2011)
  • Author(s): Mizuno, T., H. Sakai, R. Nishikomori, K. Oshima, O. Ohara, I. Hata, Y. Shigematsu, T. Ishige, K. Tamura, and H. Arakawa
  • Journal Title: Rheumatol Int Volume: (in press) Issue: 12 Pages: 3761-3764
  • DOI: 10.1007/s00296-011-2225-z
  • Peer Reviewed
• [Presentation] 国内SCID140症例の造血幹細胞移植成績について (2013)
  • Author(s): 今井耕輔
  • Organizer: 第6回日本免疫不全症研究会
  • Place of Presentation: 品川
  • Year and Date: 2013-01-26
• [Presentation] 本邦におけるICF(Immunodeficiency with Centromeric instability and Facial anomalies)症候群5例の検討 (2013)
  • Author(s): 加藤環,釜江智佳子,満生紀子,小原明,林正俊,野口恵美子,久保田健夫,本間健一,小原収,今井耕輔,野々山恵章
  • Organizer: 第41回本臨床免疫学会総会
  • Place of Presentation: 下関(海峡メッセ下関)
• [Presentation] 新規高IgM症候群と病因探索について (2013)
  • Author(s): 今井耕輔
  • Organizer: 第116回日本小児科学会学術集会.分野別シンポジウム
  • Place of Presentation: 広島(広島国際会議場)(13-3)
• [Presentation] 先天性免疫不全症における遺伝子診断法 (2013)
  • Author(s): 今井耕輔
  • Organizer: 第116回日本小児科学会学術集会.総合シンポジウム5
  • Place of Presentation: 広島(広島国際会議場)
• [Presentation] 本邦におけるGATA2異常症の臨床症状、免疫学的異常に関する検討 (2013)
  • Author(s): 本間健一,今井耕輔,加藤環,釜江智佳子,野々山恵章
  • Organizer: 第116回日本小児科学会学術集会
  • Place of Presentation: 広島(広島国際会議場)
• [Presentation] IgA単独欠損症として紹介され、TREC/KRECの結果からRAG1異常と同定しえた1例 (2013)
  • Author(s): 加藤環,釡江智佳子,本間健一,池川健,横須賀とも子,和田泰三,谷内江昭宏,西田直徳,金兼弘和,満生紀子,小原收,今井耕輔,森尾友宏,野々山恵章
  • Organizer: 第116回日本小児科学会学術集会
  • Place of Presentation: 広島(広島国際会議場)
• [Presentation] 分類不能型免疫不全症(CVID)のTREC/KRECによる病型分類 (2013)
  • Author(s): 釜江智佳子,中川紀子,本間健一,佐藤弘樹,今井耕輔,野々山恵章
  • Organizer: 第116回日本小児科学会学術集会
  • Place of Presentation: 広島(広島国際会議場)
• [Presentation] 新規高IgM症候群と病因探索について (2013)
  • Author(s): 今井耕輔
  • Organizer: 第116回日本小児科学会学術集会.分野別シンポジウム13-3
  • Place of Presentation: 広島（広島国際会議場）
• [Presentation] 先天性免疫不全症における遺伝子診断法 (2013)
  • Author(s): 今井耕輔
  • Organizer: 第116回日本小児科学会学術集会.総合シンポジウム5
  • Place of Presentation: 広島（広島国際会議場）
• [Presentation] 本邦におけるICF(Immunodeficiency with Centromeric instability and Facial anomalies)症候群5例の検討 (2013)
  • Author(s): 加藤 環, 釜江 智佳子, 満生 紀子, 小原 明, 林 正俊, 野口 恵美子, 久保田 健夫, 本間 健一, 小原 収, 今井 耕輔, 野々山 恵章
  • Organizer: 第41回日本臨床免疫学会
  • Place of Presentation: 下関（海峡メッセ下関）
• [Presentation] 本邦におけるGATA2異常症の臨床症状、免疫学的異常に関する検討 (2013)
  • Author(s): 本間 健一, 今井 耕輔, 加藤 環, 釜江 智佳子, 野々山 恵章
  • Organizer: 第116回日本小児科学会学術集会
  • Place of Presentation: 広島（広島国際会議場）
• [Presentation] IgA欠損症の原因としてのRAG遺伝子異常についての検討 (2013)
  • Author(s): 加藤 環, 釜江 智佳子, 本間 健一, 池川 健, 横須賀 とも子, 和田 泰三, 谷内江 昭宏, 今井 耕輔, 森尾 友宏, 野々山 恵章
  • Organizer: 第116回日本小児科学会学術集会
  • Place of Presentation: 広島（広島国際会議場）
• [Presentation] 分類不能型免疫不全症(CVID)のTREC/KRECによる病型分類 (2013)
  • Author(s): 釜江 智佳子, 中川 紀子, 本間 健一, 佐藤 弘樹, 今井 耕輔, 野々山 恵章
  • Organizer: 第116回日本小児科学会学術集会
  • Place of Presentation: 広島（広島国際会議場）
• [Presentation] 先天性免疫不全症における遺伝学的検査の取り扱いと諸問題について (2012)
  • Author(s): 今井耕輔
  • Organizer: 第54回日本小児血液・がん学会学術集会(イブニング・セッション3)
  • Place of Presentation: 横浜
  • Year and Date: 2012-12-01
• [Presentation] 抗ウイルス薬使用の実際と今後の考え方 (2012)
  • Author(s): 今井耕輔
  • Organizer: 第44回日本小児感染症学会総会・学術集会(シンポジウム1)
  • Place of Presentation: 北九州
  • Year and Date: 2012-11-25
• [Presentation] ウイルスに対する感染防御機構 (2012)
  • Author(s): 今井耕輔
  • Organizer: 第44回日本小児感染症学会総会・学術集会(教育セミナー)
  • Place of Presentation: 北九州
  • Year and Date: 2012-11-23
• [Presentation] 免疫不全症の遺伝子診断・治療のup-to-date (2012)
  • Author(s): 今井耕輔
  • Organizer: 第74回日本血液学会学術集会
  • Place of Presentation: 京都(教育講演)
  • Year and Date: 2012-10-21
• [Presentation] Screening for Primary Immunodeficiency Diseases using TREC and KREC. Symposium (1)Primary immunodeficiency. East Meets West (2012)
  • Author(s): Imai K.
  • Organizer: The Asia Pacific Association of Pediatric Allergy, Respirology & Immunology 2012 (APAPARI 2012)
  • Place of Presentation: Taipei, Taiwan
  • Year and Date: 2012-10-20
  • Invited
• [Presentation] Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN (2012)
  • Author(s): Honma K, Imai K, Kamae C, Ishida H, Ito Y,Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y,Ohara O, Nonoyama S.
  • Organizer: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • Place of Presentation: Florence, Italy
  • Year and Date: 2012-10-05
• [Presentation] Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC) (2012)
  • Author(s): Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, MC van Zelm, Morio T,Imai K, Nonoyama S.
  • Organizer: 5th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • Place of Presentation: Florence,Italy
  • Year and Date: 2012-10-05
• [Presentation] 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) (2012)
  • Author(s): Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T,Mizutani S.
  • Organizer: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • Place of Presentation: Florence,Italy
  • Year and Date: 2012-10-05
• [Presentation] East Meets West. The Asia Pacific Association of Pediatric Allergy, Respirology & Immunology 2012 (APAPARI 2012). (2012)
  • Author(s): Imai K. Screening for Primary Immunodeficiency Diseases using TREC and KREC. Symposium (1) Primary immunodeficiency.
  • Organizer: The Asia Pacific Association of Pediatric Allergy, Respirology & Immunology 2012 (APAPARI 2012)
  • Place of Presentation: Taipei, Taiwan
  • Invited
• [Presentation] Clinical features and immunological abnormalities of GATA2 deficiency in JAPAN
  • Author(s): Honma K, Imai K, Kamae C, Ishida H, Ito Y, Kojima S, Yokosuka T, Kanegane H, Morio T, Sasahara Y, Fujiwara T, Harigae H, Hashii Y, Ohara O, Nonoyama S
  • Organizer: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • Place of Presentation: Florence,Italy
• [Presentation] Classification of common variable immunodeficiency by quantification of T cell receptor recombination excision circles (TREC) and Ig kappa-deleting recombination excision circles (KREC)
  • Author(s): Kamae C, Nakagawa N, Sato H, Honma K, Mitsuiki N, Ohara O, Kanegane H, Pasic S, Pan-Hammarström Q, MC van Zelm, Morio T, Imai K, Nonoyama S.
  • Organizer: 5th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012). Florence
  • Place of Presentation: Florence,Italy
• [Presentation] 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).
  • Author(s): Mitsuiki N, Oshima K, Imai K, Ohara O, Morio T, Mizutani S.
  • Organizer: 15th Biennial Meeting of the European Society of Immunodeficiencies (ESID2012)
  • Place of Presentation: Florence,Italy
• [Presentation] 免疫不全症の遺伝子診断・治療のup-to-date(教育講演)
  • Author(s): 今井耕輔
  • Organizer: 第 74 回日本血液学会学術集会
  • Place of Presentation: 京都
• [Presentation] 先天性免疫不全症における遺伝学的検査の取り扱いと諸問題について
  • Author(s): 今井耕輔
  • Organizer: 第54回日本小児血液・がん学会学術集会(イブニング・セッション 3)
  • Place of Presentation: 横浜
• [Book] 標準免疫学 (2013)
  • Author(s): 今井耕輔(分担執筆)
  • Publisher: 医学書院
• [Book] 診断と治療社 (2012)
  • Author(s): 今井耕輔(分担執筆)
  • Publisher: NLRP12異常症.小児の発熱A to Z―診断・治療のTipsとPitfalls
• [Remarks] PIDJホームページ
  • URL: http://pidj.rcai.riken.jp