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Elucidation of human immunoglobulin class switch recombination mechanism by the identification of causative gene for hyper-IgM syndrome

Research Project

Project/Area Number 15K09640
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionTokyo 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) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywords原発性免疫不全症 / 免疫グロブリンクラススイッチ / 抗体産生不全症 / 免疫グロブリン / クラススイッチ / DNA損傷修復 / DNA損傷修復
Outline of Final Research Achievements

Whole exome sequencing of primary antibody deficiency including hyper- IgM syndrome (HIGM) type 4 revealed the mutations in 20 genes. Twenty-two patients with activated PI3Kδ syndrome (APDS) type 1 were identified from the low-TREC group. Increased transitional B cells / follicular T cells / plasmablasts and decreased CD4 helper T cells were useful for diagnosis. Long-term event-free survival was poor, but hematopoietic stem cell transplantation was effective. Low serum IgG2 was observed in 90%, and IgG2 class switch recombination was impaired in vitro. How activated PI3Kδ inhibits IgG2 class switch will be analyzed in the future.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report

Research Products

(132 results)

All 2019 2018 2017 2016 2015 Other

All Int'l Joint Research (4 results) Journal Article (51 results) (of which Int'l Joint Research: 18 results,  Peer Reviewed: 47 results,  Open Access: 18 results,  Acknowledgement Compliant: 10 results) Presentation (75 results) (of which Int'l Joint Research: 11 results,  Invited: 9 results) Book (2 results)

  • [Int'l Joint Research] Children’s Hospital Boston(米国)

    • Related Report
      2015 Research-status Report
  • [Int'l Joint Research] University of Freiburg(ドイツ)

    • Related Report
      2015 Research-status Report
  • [Int'l Joint Research] Erasmus MC, University Medical Center(オランダ)

    • Related Report
      2015 Research-status Report
  • [Int'l Joint Research] PGIMER, Chandigarh(インド)

    • Related Report
      2015 Research-status Report
  • [Journal Article] Hematopoietic Stem Cell Transplantation for Progressive Combined Immunodeficiency and Lymphoproliferation in Activated PI3K <delta> Syndrome Type 12019

    • Author(s)
      Okano T, Imai K, ..., Nonoyama S, Morio T. et al.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 印刷中 Pages: 266-275

    • DOI

      10.1016/j.jaci.2018.04.032

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Intravenous immunoglobulin (IVIG) efficiency in women with common variable immunodeficiency (CVID) decreases significantly during pregnancy2019

    • Author(s)
      Egawa M, Kanegane H, Imai K, Morio T, Miyasaka N
    • Journal Title

      The Journal of Maternal-Fetal & Neonatal Medicine

      Volume: 印刷中 Pages: 3092-3096

    • DOI

      10.1080/14767058.2018.1455824

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Dysregulation of Epstein-Barr virus infection in hypomorphic ZAP70 mutation2018

    • 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 Pages: 825-834

    • DOI

      10.1093/infdis/jiy231

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases2018

    • 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

      J Clin Immunol.

      Volume: 38 Pages: 300-306

    • DOI

      10.1007/s10875-018-0497-8

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome2018

    • 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

      Front Immunol.

      Volume: 9 Pages: 568-568

    • DOI

      10.3389/fimmu.2018.00568

    • NAID

      120006473827

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Type 1 diabetes mellitus associated with activated phosphatidylinositol 3-kinase delta syndrome, type 22018

    • Author(s)
      Nakagawa R, Takasawa K, Yeh TW, Imai K, Kashimada K, Morio T
    • Journal Title

      Journal of Diabetes

      Volume: 5 Pages: 421-422

    • DOI

      10.1111/1753-0407.12638

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Hematopoietic stem cell transplantation for pulmonary alveolar proteinosis associated with primary immunodeficiency disease2018

    • 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

      International Journal of Hematology

      Volume: 5 Pages: 610-614

    • DOI

      10.1007/s12185-017-2375-1

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [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

      Journal of Allergy and Clinical Immunology

      Volume: 141 Pages: 1485-1488

    • DOI

      10.1016/j.jaci.2017.10.039

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Autoinflammatory phenotypes in Aicardi-Goutieres syndrome with interferon upregulation and serological autoimmune features.2018

    • Author(s)
      Sugawara, Y., Imai, K., Kashimada, A., Moriyama, K., Baba, S., Nishikomori, R., Motegi, M., Takeuchi, Y. & Morio, T.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 141 Pages: 1135-1138

    • DOI

      10.1016/j.jaci.2017.10.019

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors2018

    • Author(s)
      Oshima Koichi、Watanabe Akira、Nakahata Tatsutoshi、Saito Megumu K. et al.
    • Journal Title

      Biochem Biophys Res Commun.

      Volume: 497 Pages: 719-719

    • DOI

      10.1016/j.bbrc.2018.02.139

    • NAID

      120006466601

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Allogeneic Hematopoietic Stem Cell Transplantation for Leukocyte Adhesion Deficiency2018

    • Author(s)
      Horikoshi Y, Umeda K, Imai K, Yabe H, Sasahara Y, Watanabe K, Ozawa Y, Hashii Y, Kurosawa H, Nonoyama S, Morio T
    • Journal Title

      J Pediatr Hematol Oncol.

      Volume: 40 Pages: 137-140

    • DOI

      10.1097/mph.0000000000001028

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation.2018

    • Author(s)
      Takagi M, Hoshino A, Yoshida K, Ueno H, Imai K, Piao J, Kanegane H, Yamashita M, Okano T, Muramatsu H, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Hayashi Y, Kojima S, Morio T.
    • Journal Title

      Pediatr Blood Cancer

      Volume: 65

    • DOI

      10.1002/pbc.26831

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations2018

    • Author(s)
      Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, et al.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 141 Pages: 704-717

    • DOI

      10.1016/j.jaci.2017.03.049

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] A Severe Anaphylactic Reaction Associated with IgM-Class Anti-Human IgG Antibodies in a Hyper-IgM Syndrome Type 2 Patient2018

    • Author(s)
      Tsujita Y, Imai K, Honma K, Kamae C, Horiuchi T, Nonoyama S
    • Journal Title

      J Clin Immunol.

      Volume: 38 Pages: 144-148

    • DOI

      10.1007/s10875-017-0466-7

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Flow cytometry-based diagnosis of primary immunodeficiency diseases2018

    • Author(s)
      Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T.
    • Journal Title

      Allergol. Int.

      Volume: 67 Issue: 1 Pages: 43-54

    • DOI

      10.1016/j.alit.2017.06.003

    • NAID

      130006322088

    • ISSN
      1323-8930, 1440-1592
    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Outcome of Hematopoietic Cell Transplantation for DNA-Double Strand Breakage Repair Disorders2018

    • Author(s)
      Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A,Imai K,Gennery AR
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: 141 Pages: 322-328

    • DOI

      10.1016/j.jaci.2017.02.036

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Wiskott-Aldrich syndrome that was initially diagnosed as immune thrombocytopenic purpura secondary to a cytomegalovirus infection2018

    • Author(s)
      Kaneko R, Yamamoto S, Okamoto N, Akiyama K, Matsuno R, Toyama D, Hoshino A, Imai K, Isoyama K
    • Journal Title

      SAGE Open Med Case Rep

      Volume: 6 Pages: 1-3

    • DOI

      10.1177/2050313x17753788

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Population Pharmacokinetics of Intravenous Busulfan in Japanese Pediatric Patients With Primary Immunodeficiency Diseases2018

    • Author(s)
      Ishiwata Y, Nagata M, Tsuge K, Takahashi H, Suzuki S, Imai K, Takagi M, Kanegane H, Morio T, Yasuhara M
    • Journal Title

      J Clin Pharmacol

      Volume: 印刷中

    • DOI

      10.1002/jcph.1027

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Effect of reduced-intensity conditioning and the risk of late-onset non-infectious pulmonary complications in pediatric patients.2017

    • Author(s)
      Nagasawa M, Mitsuiki N, Aoki Y, Ono T, Isoda T, Imai K, Takagi M, Kajiwara M, Kanegane H, Morio T.
    • Journal Title

      European Journal of Haematology

      Volume: 99 Pages: 525-531

    • DOI

      10.1111/ejh.12967

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy.2017

    • Author(s)
      Okano T, Nishikawa T, Watanabe E, Watanabe T, Takashima T, Yeh TW, Yamashita M, Tanaka-Kubota M, Miyamoto S, Mitsuiki N, Takagi M, Kawano Y, Mochizuki Y, Imai K, Kanegane H, Morio T.
    • Journal Title

      Clin Immunol

      Volume: 183 Pages: 112-120

    • DOI

      10.1016/j.clim.2017.08.003

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphicIKBKG/NEMO mutations2017

    • Author(s)
      Miot C, Imai K, Imai C, Mancini AJ, Kucuk XY, Kawai T, Nishikomori R, Ito E, Pellier I, Girod SD, Rosain J, Sasaki S, Casanova JL, Orange JS, and Picard C et al.
    • Journal Title

      Blood

      Volume: 130 Pages: 1456-1467

    • DOI

      10.1182/blood-2017-03-771600

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Prolonged neutropenia due to antihuman neutrophil antigen 2 (CD177) antibody after bone marrow transplantation.2017

    • Author(s)
      Wada T, Miyamoto S, Okamoto H, Matsuda Y, Toma T, Imai K, Takagi M, Morio T, Yachie A.
    • Journal Title

      Pediatr Blood Cancer

      Volume: 印刷中

    • DOI

      10.1002/pbc.26388

    • NAID

      120006338397

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] A stable mixed chimera after SCT with RIC in an infant with IkappaB hypermorphic mutation2017

    • Author(s)
      Masayuki Nagasawa, Teppei Ohkawa, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio
    • Journal Title

      J Clin Immunol

      Volume: 印刷中 Pages: 413-414

    • DOI

      10.1007/s10875-017-0375-9

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.2017

    • Author(s)
      Hoshino A, Okada S, Yoshida K, Nishida N, Okuno Y, Ueno H, Yamashita M, Okano T, Tsumura M, Nishimura S, Sakata S, Kobayashi M, Nakamura H, Kamizono J, Mitsui-Sekinaka K, Ichimura T, Ohga S, Nakazawa Y, Takagi M, Imai K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Nonoyama S, Morio T, Kanegane H.
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: - Pages: 223-231

    • DOI

      10.1016/j.jaci.2016.09.029

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Common Variable Immunodeficiency Caused by FANC Mutations2017

    • Author(s)
      Sekinaka Y., Mitsuiki N., Imai K., Yabe M., Yabe H., Mitsui-Sekinaka K., Honma K., Takagi M., Arai A., Yoshida K., Okuno Y., Shiraishi Y., Chiba K., Tanaka H., Miyano S., Muramatsu H., Kojima S., Hira A., Takata M., Ohara O., Ogawa S., Morio T., Nonoyama S.
    • Journal Title

      J Clin Immunol

      Volume: 37 Pages: 434-444

    • DOI

      10.1007/s10875-017-0396-4

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases.2017

    • Author(s)
      Takashima T, Okamura M, Yeh TW, Okano T, Yamashita M, Tanaka K, Hoshino A, Mitsuiki N, Takagi M, Ishii E, Imai K, Kanegane H, Morio T.
    • Journal Title

      J Clin Immunol

      Volume: 37 Pages: 486-495

    • DOI

      10.1007/s10875-017-0405-7

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome.2017

    • Author(s)
      Takagi M, Ogata S, Ueno H, Yoshida K, Yeh T, Hoshino A, Piao J, Yamashita M, Nanya M, Okano T, Kajiwara M, Kanegane H, Muramatsu H, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Bando Y, Kato M, Hayashi Y, Miyano S, Imai K, Ogawa S, Kojima S, Morio T.
    • Journal Title

      J Allergy Clin Immuno

      Volume: - Pages: 1914-1922

    • DOI

      10.1016/j.jaci.2016.09.038

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Reticular dysgenesis: international survey on clinical presentation, transplantation and outcome2017

    • Author(s)
      Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW,
    • Journal Title

      Blood

      Volume: 印刷中 Pages: 2928-2938

    • DOI

      10.1182/blood-2016-11-745638

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] HLA haploidentical hematopoietic cell transplantation using clofarabine and busulfan for refractory pediatric hematological malignancy.2017

    • Author(s)
      Takagi M, Ishiwata Y, Aoki Y, Miyamoto S, Hoshino A, Matsumoto K, Nishimura A, Tanaka M, Yanagimachi M, Mitsuiki N, Imai K, Kanegane H, Kajiwara M, Takikawa K, Mae T, Tomita O, Fujimura J, Yasuhara M, Tomizawa D, Mizutani S, Morio T.
    • Journal Title

      Int J Hematol.

      Volume: 105 Pages: 686-691

    • DOI

      10.1007/s12185-017-2187-3

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Persistent Impairment of T-Cell Regeneration in a Patient with Activated PI3K δ Syndrome2017

    • Author(s)
      Goto F, Uchiyama T, Nakazawa Y, Imai K, Kawai T, Onodera M
    • Journal Title

      J. Clin. Immunol.

      Volume: 37 Pages: 347-350

    • DOI

      10.1007/s10875-017-0393-7

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Placental Transfer of Canakinumab in a Patient with Muckle-Wells Syndrome.2017

    • Author(s)
      Egawa M, Imai K, Mori M, Miyasaka N, Kubota T.
    • Journal Title

      J Clin Immunol

      Volume: 印刷中 Pages: 339-341

    • DOI

      10.1007/s10875-017-0389-3

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India2017

    • Author(s)
      Rawat A, Vignesh P, Sharma A, Shandilya JK, Sharma M, Suri D, Gupta A, Gautam V, Ray P, Rudramurthy SM, Chakrabarti A, Imai K, Nonoyama S, Ohara O, Lau YL, Singh S
    • Journal Title

      J Clin Immunol

      Volume: 37 Pages: 319-328

    • DOI

      10.1007/s10875-017-0382-x

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study2017

    • Author(s)
      Coulter TI, Chandra A, Bacon CM, Imai K,
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: 139 Pages: 597-606

    • DOI

      10.1016/j.jaci.2016.06.021

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan.2017

    • Author(s)
      3.Ono S, Okano T, Hoshino A, Yanagimachi M, Hamamoto K, Nakazawa Y, Imamura T, Onuma M, Niizuma H, Sasahara Y, Tsujimoto H, Wada T, Kunisaki R, Takagi M, Imai K, Morio T, Kanegane H.
    • Journal Title

      J. Clin. Immunol

      Volume: 37 Pages: 85-91

    • DOI

      10.1007/s10875-016-0348-4

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase delta syndrome-like immunodeficiency.2016

    • Author(s)
      Tsujita Y, et al.
    • Journal Title

      J Allergy Clin Immunol

      Volume: 138 Pages: 1672-1680

    • DOI

      10.1016/j.jaci.2016.03.055

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome.2016

    • Author(s)
      Kojima D, Muramatsu H, Okuno Y, Kataoka S, Murakami N, Tanahashi Y, Suzuki K, Kato T, Sekiya Y, Kawashima N, Narita A, Nishio N, Hama A, Imai K, Nonoyama S, Takahashi Y, Kojima S.
    • Journal Title

      Journal of Allergy and Clinical Immunology

      Volume: 138 Pages: 1471-1473

    • DOI

      10.1016/j.jaci.2016.04.048

    • NAID

      120005981223

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] X-linked agammaglobulinemia: Twenty years of single-center experience from North West India.2016

    • Author(s)
      Singh S, Rawat A, Suri D, Gupta A, Garg R, Saikia B, Minz RW, Sehgal S, Chan KW, Lau YL, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O.
    • Journal Title

      Ann Allergy Asthma Immunol.

      Volume: 117 Pages: 405-411

    • DOI

      10.1016/j.anai.2016.07.044

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency.2016

    • Author(s)
      5.Sato T, Okano T, Tanaka-Kubota M, Kimura S, Miyamoto S, Ono S, Yamashita M, Mitsuiki N, Takagi M, Imai K, Kajiwara M, Ebato T, Ogata S, Oda H, Ohara O, Kanegane H, Morio T.
    • Journal Title

      Pediatr Int

      Volume: 58 Pages: 1076-1080

    • DOI

      10.1111/ped.13070

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.2016

    • Author(s)
      Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Imai K, et al.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 138 Pages: 210-218

    • DOI

      10.1016/j.jaci.2016.03.022

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome.2016

    • Author(s)
      Rawat A, Imai K, Suri D, Gupta A, Bhisikar S, et al
    • Journal Title

      Indian J Pediatr

      Volume: 83 Pages: 270-271

    • DOI

      10.1007/s12098-015-1852-x

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.2016

    • Author(s)
      Hayakawa S, Okada S, Tsumura M, Sakata S, Ueno Y, Imai K, Morio T, Ohara O, Chayama K, Kobayashi M.
    • Journal Title

      J Clin Immunol.

      Volume: 36 Pages: 28-32

    • DOI

      10.1007/s10875-015-0221-x

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] 免疫グロブリンクラススイッチ異常症(高IgM症候群)2015

    • Author(s)
      今井耕輔
    • Journal Title

      小児内科

      Volume: 47 Pages: 713-717

    • Related Report
      2015 Research-status Report
  • [Journal Article] 原発性免疫不全症 原因探索法・診断法の進歩2015

    • Author(s)
      今井耕輔
    • Journal Title

      アレルギー・免疫

      Volume: 22 Pages: 1196-1207

    • Related Report
      2015 Research-status Report
  • [Journal Article] 多パラメータ解析による免疫担当細胞亜群同定と機能解析2015

    • Author(s)
      森尾友宏、高島健浩、今井耕輔
    • Journal Title

      医学のあゆみ

      Volume: 252 Pages: 48-54

    • Related Report
      2015 Research-status Report
  • [Journal Article] PI3K異常症および類縁疾患2015

    • Author(s)
      辻田 由喜、今井耕輔、野々山 恵章.
    • Journal Title

      小児内科

      Volume: 47 Pages: 776-778

    • Related Report
      2015 Research-status Report
  • [Journal Article] Clinical features and hematopoietic stem cell transplantation for CD40 ligand deficiency in Japan2015

    • Author(s)
      Mitsui-Sekinaka K, Imai K, Sato H, Tomizawa D, Kajiwara M, Nagasawa M, Morio T, Nonoyama S
    • Journal Title

      J Allergy Clin Immunol

      Volume: - Pages: 1018-1024

    • DOI

      10.1016/j.jaci.2015.02.020

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency2015

    • Author(s)
      Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, Nakazawa Y, Mishima H, Takahashi K, Kondo O, Imai K, Morio T, Ohara O,et al
    • Journal Title

      Journal of Clinical Immunology

      Volume: 160 Pages: 225-260

    • DOI

      10.1016/j.clim.2015.07.004

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency.2015

    • Author(s)
      Wehr C, Gennery A, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz &Ouml;, Zecca M, Zdziarski P, Meyts I, Matthes-Martin S, Imai K, et al
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 135 Pages: 988-97

    • DOI

      10.1016/j.jaci.2014.11.029

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] RAG1 Deficiency May Present Clinically as Selective IgA Deficiency.2015

    • Author(s)
      Kato T, Crestani E, Kamae C, Honma K, Yokosuka T, Ikegawa T, Nishida N, Kanegane H, Wada T, Yachie A, Ohara O, Morio T, Notarangelo LD, Imai K, Nonoyama S.
    • Journal Title

      J Clin Immunol

      Volume: 35(3) Pages: 280-288

    • DOI

      10.1007/s10875-015-0146-4

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Mutations in Bruton's tyrosine kinase impair IgA responses.2015

    • Author(s)
      Mitsuiki N, Yang X, S, Bartol SJ, Grosserichter-Wagener C, Kosaka Y, Takada H, Imai K, Kanegane H, Mizutani S, van der Burg M, van Zelm MC, Ohara O, Morio T.
    • Journal Title

      Int J Hematol

      Volume: 101(3) Pages: 305-13

    • DOI

      10.1007/s12185-015-1732-1

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation.2015

    • Author(s)
      Nishida N, Yang X, Takasaki I, Imai K, Kato K, Inoue Y, Imamura T, Miyashita R, Kato F, Yamaide A, Mori M, Saito S, Hara J, Adachi Y, Miyawaki T,Kanegane H
    • Journal Title

      J Investig Allergol Clin Immunol

      Volume: 25 Pages: 205-213

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Presentation] STAT1機能獲得型変異による原発性免疫不全症患者に対する造血細胞移植の有効性と問題点の検討2018

    • Author(s)
      岡田賢,Jennifer Leiding,Troy Torgerson,今井耕輔,井口晶裕,有賀正,森尾友宏,小林正夫
    • Organizer
      第40回日本造血細胞移植学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 本邦におけるIPEX症候群に対する造血細胞移植2018

    • Author(s)
      井上健斗, 星野顕宏, 柳町昌克, 今井耕輔, 高木正稔, 新妻秀剛, 笹原洋二, 森健, 早川晶, 金兼弘和, 森尾友宏
    • Organizer
      第40回日本造血細胞移植学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 活性化PI3Kδ症候群1型に対するHLA一致非血縁者間骨髄移植2018

    • Author(s)
      廣木遥, 岡野翼, 今井耕輔, 井上真依子, 宮本智史, 井上健斗, 星野顕宏, 柳町昌克, 高木正稔, 梶原道子, 金兼弘和, 森尾友宏
    • Organizer
      第40回日本造血細胞移植学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 造血細胞移植後の閉塞性細気管支炎に対して生体片肺移植を施行したWiskott-Aldrich症候群の1例2018

    • Author(s)
      柳町昌克, 田中真理, 今井耕輔, 前田佳真, 西村聡, 星野顕宏, 満生紀子, 高木正稔, 梶原道子, 金兼弘和, 長澤正之, 岡本健太郎, 陳豊史, 伊達洋至, 森尾友宏
    • Organizer
      第40回日本造血細胞移植学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Droplet digital PCRを用いた造血細胞移植後キメリズム解析の有用性2018

    • Author(s)
      金兼弘和, 岡野翼, 辻田由喜, 関中佳奈子, 谷田けい, 宮本智史, Yeh Tzu Wen, 山下基, 寺田尚美, 小倉友美, 高木正稔, 今井耕輔, 野々山恵章, 森尾友宏
    • Organizer
      第40回日本造血細胞移植学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 原発性免疫不全症に対するFluBUとFluMelによる前処置法に比較検討2018

    • Author(s)
      西村聡, 青木由貴, 石渡泰芳, 松本和明, 廣木遥, 小野真太郎, 岡野翼, 宮本智史, 足洗美穂, 星野顕宏, 田中真理, 宮脇零士, 小林千佳, 手束真理, 大川哲平, 満生紀子, 遠藤明史, 小野敏明, 磯田健志, 宮澤大輔, 長澤正之, 水谷修紀, 安原眞人, 梶原道子, 柳町昌克, 高木正稔, 金兼弘和, 今井耕輔, 森尾友宏
    • Organizer
      第40回日本造血細胞移植学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Reduced-intensity conditioning transplantation for X-inked lymphoroliferative syndrome type 12018

    • Author(s)
      Tamura A, Uemura S, Yamamoto N, Nakamura S, Fujiwara T, Tahara T, Saito A, Kozaki A, Kishimoto K, Ishida T, Hasegawa D, Hiroki H, Okano T, Imai K, Morio T, Kosaka Y, Kanegane H
    • Organizer
      第40回日本造血細胞移植学会総会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Evans症候群および低ガンマグロブリン血症を発症した歌舞伎症候群の一例2018

    • Author(s)
      蒸野寿紀,田村志宣,山下友佑,三嶋博之,南弘一,月野隆一,鈴木啓之,吉浦孝一郎,今井耕輔、森尾友宏,園木孝志
    • Organizer
      第1回日本免疫不全・自己炎症学会総会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Successful cord blood transplantation in a patient with adult-onset common variable immunodeficiency2018

    • Author(s)
      田村志宣,春谷勇平,小畑裕史,山下友佑,蒸野寿紀,細井裕樹,村田祥吾,西川彰則,吉浦孝一郎,今井耕輔,森尾友宏,園木孝志
    • Organizer
      第1回日本免疫不全・自己炎症学会総会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] IKZF3ヘテロ結合型ミスセンス変異によるB細胞欠損症2018

    • Author(s)
      山下基, 満生紀子, 岡田賢, 井上裕三朗, 中世古知昭, Aditya K. Padhi, Kam Y Zhang, 小原收, 今井耕輔, 高木正稔, 金兼弘和, 谷内一郎, 森尾友宏
    • Organizer
      第1回日本免疫不全・自己炎症学会総会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 生殖細胞PAX5変異による家族性急性リンパ性白血病発症患者における免疫機能の評価2018

    • Author(s)
      高木正稔, 小川淳, 今井耕輔, 金兼弘和, 森尾友宏
    • Organizer
      第1回日本免疫不全・自己炎症学会総会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] RAS関連ALPS様疾患(RALD)モデルマウスを用いたリンパ球分化の解析2018

    • Author(s)
      林琳,今井耕輔,金兼弘和,森尾友宏,高木正稔
    • Organizer
      第1回日本免疫不全・自己炎症学会総会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] WHIM症候群8例の臨床的特徴、免疫学的解析について2018

    • Author(s)
      座波清誉,加藤環,今井耕輔,森尾友宏,上田耕一郎,谷内昇一郞,川原勇太,森本哲,樋渡光輝,片岡伸介,村松秀城,大杉夕子,野々山恵章
    • Organizer
      第1回日本免疫不全・自己炎症学会総会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] X連鎖性高IgM症候群に対する強度減弱前処理による造血細胞移植.2017

    • Author(s)
      西村聡, 星野顕宏, 松本和明, 小野真太郎, 田中真理, 足洗美穂, 満生紀子, 宮村能子, 橋井佳子, 磯田健志, 柳町昌克, 梶原道子, 高木正稔, 今井耕輔, 金兼弘和, 森尾友宏.
    • Organizer
      第39回日本造血細胞移植学会総会
    • Place of Presentation
      くにびきメッセ・島根県民会館(島根県・松江市)・
    • Year and Date
      2017-03-03
    • Related Report
      2016 Research-status Report
  • [Presentation] 頻回再発に対する複数回造血細胞移植により寛解を維持している乳児白血病の7歳女児例2017

    • Author(s)
      宮本智史, 高木正稔, 西村聡, 田中真理, 小野真太郎, 足洗美穂, 満生紀子, 星野顕宏, 柳町昌克, 青木由貴, 宮澤大輔, 今井耕輔, 梶原道子, 金兼弘和, 森尾友宏
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] リンパ節腫大を契機に見つかったCTLA4ハプロ不全症2017

    • Author(s)
      吉本優里, 山中純子, 末永祐太, 田中瑞恵, 瓜生英子, 平井理央, 佐藤典子, 星野顕宏, 今井耕輔, 金兼弘和, 七野浩之
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] SCID:重症複合免疫不全症、その新生児マススクリーニングと治療2017

    • Author(s)
      今井耕輔
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] ネララビンを含む多剤併用化学療法中に歩行不可能となったT細胞性リンパ腫白血病の1例2017

    • Author(s)
      田中真理, 西村聡, 山下基, 岡野翼, 宮本智史, 星野顕宏, 満生紀子, 柳町昌克, 今井耕輔, 高木正稔, 金兼弘和, 森尾友宏
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 播種性フザリウム感染症を合併した重症先天性好中球減少症の一例2017

    • Author(s)
      井上麻衣子,星野顕宏,松本和明,西村聡,柳町昌克,高木正稔,金兼弘和,今井耕輔,森尾友宏
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 原発性免疫不全症・自己炎症性疾患において考慮すべき遺伝医療の特性と課題2017

    • Author(s)
      今井耕輔
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 移植後中心静脈栄養依存となったのち、右心房内fibrin血栓症を発症したNEMO異常症の一例2017

    • Author(s)
      廣木遥, 今井耕輔, 宮本智史, 井上真依子, 田中真理, 星野顕宏, 柳町昌克, 高木正稔, 梶原道子, 金兼弘和, 森尾友宏
    • Organizer
      第59回日本小児血液・がん学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] EBウイルス関連リンパ増殖症に対する網羅的診断方法の有用性2017

    • Author(s)
      小野真太郎, 金兼弘和. 星野顕宏, 岡野翼, 今井耕輔, 中山学, 小原收, 森尾友宏
    • Organizer
      第49回日本小児感染症学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 反復する単純ヘルペスウイルス感染、爪白癬、脱毛を特徴とするNF-kB2欠損症(CVID10)の1例2017

    • Author(s)
      加藤環, 森口直彦, Yeh Tzu Wen, 岡野翼, 金兼弘和, 今井耕輔, 森尾友宏
    • Organizer
      第49回日本小児感染症学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] X連鎖リンパ増殖症候群2型におけるHHV-6 DNA高コピー数は再活性化か?2017

    • Author(s)
      井上健斗, 星野顕宏, 三浦浩樹, 朴明子, 今井耕輔, 吉川哲史, 金兼弘和, 森尾友宏
    • Organizer
      第49回日本小児感染症学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Very late relapseを起こしたヘルペス脳炎の1例2017

    • Author(s)
      佐藤健、安達恵利子、滝島茂、菅原祐之、長谷川毅、土屋史郎、今井耕輔、森尾友宏
    • Organizer
      第49回日本小児感染症学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 細菌性肺炎を発症したX連鎖慢性肉芽腫症保因者2017

    • Author(s)
      谷田けい、星野顕宏、柳町昌克、今井耕輔、呉宗憲、川島尚志、西村豊樹、布井博幸、金兼弘和、森尾友宏
    • Organizer
      第49回日本小児感染症学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Newborn Screening of PID in japan2017

    • Author(s)
      今井耕輔
    • Organizer
      APSID 2017 Autumn School
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 多彩な自己免疫疾患を合併するSTAT3機能獲得変異2017

    • Author(s)
      谷田けい, 星野顕宏, 今井耕輔, 岡田賢, 大西秀典, 鈴木孝二, 南部隆亮, 森雅亮, 金兼弘和, 森尾友宏
    • Organizer
      第27回日本小児リウマチ学会総会・学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 多施設共同研究による A20ハプロ不全症の国内症例の 病態解析2017

    • Author(s)
      大西秀典,門脇朋範,川本典生,堀友博,西村謙一,小林千恵,重村倫成,緒方昌平,井上祐三朗,河合朋樹,日衛嶋栄太郎,高木正稔,今井耕輔,西小森隆太,伊藤秀一,平家俊男,小原收,森尾友宏,深尾敏幸,金兼弘和
    • Organizer
      第45回日本臨床免疫学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 造血幹細胞移植による XIAP 欠損症関連炎症性腸疾患の 治療2017

    • Author(s)
      小野真太郎,金兼弘和,柳町昌克,岡野翼,星野顕宏,高木正稔,今井耕輔,森尾友宏
    • Organizer
      第45回日本臨床免疫学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] スペクトル型セルアナライザーを用いた ヒト免疫細胞分化状態診断法の検討2017

    • Author(s)
      今井耕輔,寺田尚美,森尾友宏
    • Organizer
      第45回日本臨床免疫学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 機能獲得型変異による慢性炎症と免疫不全症2017

    • Author(s)
      今井耕輔
    • Organizer
      第45回日本臨床免疫学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] A Nation-wide Survey of Haploinsufficiency of A20 Reveals the Frequent Coincidence of Autoimmunity in Japan2017

    • Author(s)
      Kadowaki T, Ohnishi H, Kanegane 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, Heiki T, Ohara O, Morio T, Fukao T
    • Organizer
      ESID 2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Inflammatory Bowel Disease Associated with XIAP Deficiency can be cured by Hematopoietic Stem Cell Transplantation2017

    • Author(s)
      Ono S, Yanagimachi M, Okano T, Hoshino A, Takagi M, Imai K, Morio T, Kanegane H
    • Organizer
      ESID 2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Combined Immunodeficiency and Progressive Lymphoproliferative Diseases of Activated P13Kγ Syndrome Rescued by Hematopoietic2017

    • Author(s)
      Okano T, Imai K, Mitui-Sekinaka K, Yeh T.W, Takashima T, Kanegane H, Nonoyama S, Morio T
    • Organizer
      ESID 2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] A Case of Non-Pulmonary Sarcoidosis Due to Novel Hypomorphic Missense Mutation of NCF22017

    • Author(s)
      Okamoto K, Okano T, Kumaki E, Tanaka E, Ono S, Wada T, Ohnishi H, Kato Z, Nunoi N, Imai K, Kanegane H, Mori M, Morio T
    • Organizer
      ESID 2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 初発より10年後に再発が認められた髄芽腫の一例2017

    • Author(s)
      宮本智史, 井上真依子, 廣木遥, 井上健斗, 星野顕宏, 柳町昌克, 今井耕輔, 高木正稔, 金兼弘和, 梶原道子, 森尾友宏
    • Organizer
      第47回小児血液腫瘍症例検討会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 免疫不全症に対する新生児マススクリーニング2017

    • Author(s)
      今井耕輔
    • Organizer
      第44回日本マススクリーニング学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] HSCT for PID:over 30 years of experience in japan2017

    • Author(s)
      Imai K
    • Organizer
      APSID 2017 summer school
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 風疹ワクチン持続感染を伴ったLIG4症候群に対する最滅弱前処置による骨髄移植2017

    • Author(s)
      松本和明, 西村聡, 星野顕宏, 田中真理, 満生紀子, 柳町昌克, 今井耕輔, 高木正稔, 金兼弘和, 森尾友宏
    • Organizer
      第120回日本小児科学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] EBウイルス関連血球貧食性リンパ組織球症におけるT細胞受容体レパトア解析2017

    • Author(s)
      澤田淳, 岡野翼, Yeh Tzu Wen, 今留謙一, 今井耕輔, 金兼弘和, 森尾友宏
    • Organizer
      第120回日本小児科学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] IL2RG遺伝子のsynonymous変異によりスプライス異常をきたした非典型γc欠損症2017

    • Author(s)
      若月良介、今井耕輔、加藤環、山西愼吾、真弓暢子、田中真百合、山下基、金兼弘和、野々山恵章、森尾友宏
    • Organizer
      第120回日本小児科学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 39歳時に初めて診断に至ったCD40L欠損症の一例2016

    • Author(s)
      松田裕介,小泉瑛子,村岡正裕,白橋徹志郎,栂暁子,岡本浩之,和田泰三,東馬智子,谷内江昭宏,田中桂輔,今井耕輔,金兼弘和,森尾友宏,
    • Organizer
      第48回日本小児感染症学会学術集会
    • Place of Presentation
      岡山コンベンションセンター(岡山県・岡山市)
    • Year and Date
      2016-11-19
    • Related Report
      2016 Research-status Report
  • [Presentation] Primary antibody deficiency in Japan:overview and P13K related disorders.2016

    • Author(s)
      Imai K
    • Organizer
      XLP-WAS 2016 Symposium-London
    • Place of Presentation
      イギリス(ロンドン)
    • Year and Date
      2016-09-27
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] IkB-αS32 Mutations Underly Ectodermal Dysplasia with Immunodeficiency Manifestations and Correlation with Immunological Parameters.2016

    • Author(s)
      Moriya K, Tanita K, Ohnishi H, Niizuma H, Rikiishi T, Nishikomori R, Ishige T, Imai K, Kanegane H, Sasahara Y, Arakawa H, Kure S, Morio T.
    • Organizer
      17th Biennial Meeting of the European Society for Immunodeficiencies
    • Place of Presentation
      スペイン(バルセロナ)
    • Year and Date
      2016-09-21
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] Activated P13 Kinase Delta Syndrome (APDS)-Like Immunodeficiency Caused by PTEN Mutation2016

    • Author(s)
      Mitsui-Sekinaka K, Imai K, Tsujita Y, Mitsuiki N, Asano T, Sekinaka Y, Kanegane H, Yoshida K, Miyano S, Kojima S, Ogawa S, Ohara O, Okada S, Kobayashi M, Takagi M, Morio T, Nonoyama S.
    • Organizer
      17th Biennial Meeting of the European Society for Immunodeficiencies
    • Place of Presentation
      スペイン(バルセロナ)
    • Year and Date
      2016-09-21
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] 低または無ガンマグロブリン血症50例に対する皮下注用人免疫グロブリン製剤導入2016

    • Author(s)
      足洗美穂,金兼弘和,今井耕輔,木村菜美子,陳菜穂,岡野翼,小野真太郎,田中真理,宮本智史,小林千佳,満生紀子,青木由貴,田中絵里子,高木正稔,森尾友宏.
    • Organizer
      第7回関東甲越免疫不全症研究会
    • Place of Presentation
      ステーションコンファレンス東京(東京都・千代田区)
    • Year and Date
      2016-09-18
    • Related Report
      2016 Research-status Report
  • [Presentation] IKBA遺伝子異常による免疫不全症を伴う無汗性外胚葉形成不全症(EDA-ID)に合併した腸炎の一例2016

    • Author(s)
      五十嵐淑子, 石毛崇, 西田豊, 鎌田亜希子, 八木久子, 滝沢琢己, 荒川浩一, 河合朋樹, 今井耕輔, 河合利尚
    • Organizer
      第43回日本小児栄養消化器肝臓学会
    • Place of Presentation
      つくば国際会議場(茨城県・つくば市)
    • Year and Date
      2016-09-17
    • Related Report
      2016 Research-status Report
  • [Presentation] Activated PI3Kδ syndromeにおけるB細胞でのAKTの過剰リン酸化についての検討.2016

    • Author(s)
      浅野孝基,岡田賢,津村弥来,小林正夫,葉姿文,今井耕輔,森尾友宏,関中佳奈子,辻田由喜,野々山恵章
    • Organizer
      第119回日本小児科学会学術集会
    • Place of Presentation
      ロイトン札幌(北海道・札幌市)
    • Year and Date
      2016-05-13
    • Related Report
      2016 Research-status Report
  • [Presentation] IKBA遺伝子異常による無汗性外胚葉形成不全症の一例.2016

    • Author(s)
      鎌田亜希子,石毛崇,八木久子,滝沢琢己,荒川浩一,河合朋樹,今井耕輔
    • Organizer
      第119回日本小児科学会学術集会
    • Place of Presentation
      ロイトン札幌(北海道・札幌市)
    • Year and Date
      2016-05-13
    • Related Report
      2016 Research-status Report
  • [Presentation] 放射線感受性高IgM症候群原因遺伝子の同定.2016

    • Author(s)
      今井耕輔
    • Organizer
      第119回日本小児科学会学術集会
    • Place of Presentation
      ロイトン札幌(北海道・札幌市)
    • Year and Date
      2016-05-13
    • Related Report
      2016 Research-status Report
  • [Presentation] Broad Spectrum of Clinical Manifestations and Outcome of Hematopoietic Stem Cell Transplantation in Japanese Patients with Activated P13KD Syndrome Type1.2016

    • Author(s)
      Okano T, Imai K, Tsujita Y, Mitsuiki , Mitsui-Sekinaka K, Takashima T, Kanegane H, Nonoyma S.
    • Organizer
      ASPID Spring School
    • Place of Presentation
      香港大学(香港)
    • Year and Date
      2016-04-29
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] HYPER-IGM SYNDROMES DUE TO CSR DEFECTS-HOW TO TREAT ACCORDING TO GENETIC SUBTYPES?2016

    • Author(s)
      Imai K
    • Organizer
      ASPID Spring School
    • Place of Presentation
      香港大学(香港)
    • Year and Date
      2016-04-29
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] 免疫不全を伴ったRAD50異常症の一例.2016

    • Author(s)
      星野顕宏、金兼弘和、森尾友宏、今井耕輔、高木正稔、他
    • Organizer
      第9回日本免疫不全症研究会学術集会
    • Place of Presentation
      ベルサール東京日本橋(東京都中央区)
    • Year and Date
      2016-01-23
    • Related Report
      2015 Research-status Report
  • [Presentation] ニューモシスチス肺炎を契機に2系統血球減少を伴う重症複合免疫不全症の診断に至り、造血幹細胞移植を施行した10歳女児例.2016

    • Author(s)
      岡田玲緒奈、日野もえ子、井上祐三郎、奥主朋子、藤田雄治、下条直樹、山下基、今井耕輔、金兼弘和、森尾友宏、他
    • Organizer
      第9回日本免疫不全症研究会学術集会
    • Place of Presentation
      ベルサール東京日本橋(東京都中央区)
    • Year and Date
      2016-01-23
    • Related Report
      2015 Research-status Report
  • [Presentation] 活性化PI3Kdelta症候群におけるラパマイシンによるT細胞の制御.2016

    • Author(s)
      齋藤優実、内山徹、後藤文洋、渡辺信之、中澤裕美子、河合利尚、長田香代、小野寺史、今井耕輔、他.
    • Organizer
      第9回日本免疫不全症研究会学術集会
    • Place of Presentation
      ベルサール東京日本橋(東京都中央区)
    • Year and Date
      2016-01-23
    • Related Report
      2015 Research-status Report
  • [Presentation] 軽度T細胞機能不全とNK細胞数を呈し、エクソーム解析にてIL2RG新規変異を同定した兄弟例.2016

    • Author(s)
      關中佳奈子、加藤環、關中悠仁、野々山恵章、今井耕輔、他.
    • Organizer
      第9回日本免疫不全症研究会学術集会
    • Place of Presentation
      ベルサール東京日本橋(東京都中央区)
    • Year and Date
      2016-01-23
    • Related Report
      2015 Research-status Report
  • [Presentation] 汎発性疣贅を呈し、IL2RG遺伝子のsynonymouse変異によりスプライス異常をきたしたγC欠損症の16歳男児例.2016

    • Author(s)
      山下基、今井耕輔、岡野翼、田中圭輔、葉姿&#27766;、星野顕宏、金兼弘和、森尾友宏、他.
    • Organizer
      第9回日本免疫不全症研究会学術集会
    • Place of Presentation
      ベルサール東京日本橋(東京都中央区)
    • Year and Date
      2016-01-23
    • Related Report
      2015 Research-status Report
  • [Presentation] CTLA-4ハプロ不全による原発性免疫不全症の9例.2016

    • Author(s)
      早川誠一、岡田賢、土居岳彦、小林正夫、星野顕宏、高木正稔、今井耕輔、金兼友宏、森尾友宏、他
    • Organizer
      第9回日本免疫不全症研究会学術集会
    • Place of Presentation
      ベルサール東京日本橋(東京都中央区)
    • Year and Date
      2016-01-23
    • Related Report
      2015 Research-status Report
  • [Presentation] 炎症性腸疾患を合併したXIAP 欠損症患者に対する骨髄移植成功例Successful bone marrow transplantation in an XIAP-deficient patient associated with inflammatory bowel disease2015

    • Author(s)
      小野真太郎、金兼弘和、我有茉希、久保田真理、足洗美穂、宮本智史、小林千佳、満生紀子、今井耕輔、高木正稔、梶原道子、森尾友宏
    • Organizer
      第57回日本小児血液・がん学会学術集会
    • Place of Presentation
      甲府富士屋ホテル(山梨県甲府市)
    • Year and Date
      2015-11-27
    • Related Report
      2015 Research-status Report
  • [Presentation] Rituximabが奏功したX連鎖リンパ増殖症候群1型の一例Successful treatment by rituximab in a patient with X-linked lymphoproliferative syndrome type 1.2015

    • Author(s)
      廣木遥、岡野翼、山下基、足洗美穂、宮本智史、小林千佳、青木由貴、高木正稔、今井耕輔、金兼弘和、森尾友宏
    • Organizer
      第57回日本小児血液・がん学会学術集会
    • Place of Presentation
      甲府富士屋ホテル(山梨県甲府市)
    • Year and Date
      2015-11-27
    • Related Report
      2015 Research-status Report
  • [Presentation] 自己免疫性リンパ増殖症様疾患に対する全エクソーム解析の経験Whole-exome analysis of autoimmune lymphoproliferative syndrome-like diseases2015

    • Author(s)
      高木正稔、今井耕輔、朴今花、山下基、星野顕宏、岡野翼、金兼弘和、松村秀樹、奥野友介、吉田健一、上野浩生、白石友一、千葉健一、田中洋子、宮野悟、小川誠司、林泰秀、小島勢二、森尾友宏
    • Organizer
      第57回日本小児血液・がん学会学術集会
    • Place of Presentation
      甲府富士屋ホテル(山梨県甲府市)
    • Year and Date
      2015-11-27
    • Related Report
      2015 Research-status Report
  • [Presentation] IgGサブクラス欠損を呈する原発性免疫不全症の診断と治療(口頭)2015

    • Author(s)
      今井耕輔
    • Organizer
      第47回 小児感染症学会
    • Place of Presentation
      ザ・セレクトン福島(福島県福島市)
    • Year and Date
      2015-10-31
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] 小児感染免疫領域に必要な診療支援ネットワーク PIDJネットワーク2015

    • Author(s)
      今井耕輔
    • Organizer
      第47回 小児感染症学会
    • Place of Presentation
      ザ・セレクトン福島(福島県福島市)
    • Year and Date
      2015-10-31
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] 経口ロタウイルスワクチン株の持続排泄を認めたX連鎖重症複合免疫不全症の一例(ポスター)2015

    • Author(s)
      友田昂宏、宮本智史、久保田真理、小野真太郎、足洗美穂、満生紀子、高木正稔、今井耕輔、梶原道子、金兼弘和、森尾友宏
    • Organizer
      47回 小児感染症学会
    • Place of Presentation
      ザ・セレクトン福島(福島県福島市)
    • Year and Date
      2015-10-31
    • Related Report
      2015 Research-status Report
  • [Presentation] 免疫不全症における抗体産生異常の機序(口頭)2015

    • Author(s)
      今井耕輔
    • Organizer
      第43回日本臨床免疫学会
    • Place of Presentation
      神戸国際会議場(兵庫県神戸市)
    • Year and Date
      2015-10-22
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] 当院で経験した分類不能型免疫不全症の妊娠・出産に関する検討2015

    • Author(s)
      江川真希子,今井耕輔,満生紀子,森尾友宏,宮坂尚幸
    • Organizer
      第43回日本臨床免疫学会
    • Place of Presentation
      神戸国際会議場(兵庫県神戸市)
    • Year and Date
      2015-10-22
    • Related Report
      2015 Research-status Report
  • [Presentation] XIAP欠損症に伴う炎症性腸疾患2015

    • Author(s)
      岡野翼、金兼弘和、小野真太郎、足洗美穂、小林千佳、星野顕宏、満生紀子、青木由貴、高木正稔、今井耕輔、森尾友宏
    • Organizer
      第25会日本小児リウマチ学会総会・学術集会
    • Place of Presentation
      金沢歌劇座(石川県金沢市)
    • Year and Date
      2015-10-09
    • Related Report
      2015 Research-status Report
  • [Presentation] IKBA遺伝子異常による無汗性外胚葉形成不全症の一例2015

    • Author(s)
      西田豊,鎌田亜希子,石毛崇,八木久子,滝沢琢己,荒川浩一,河合朋樹,今井耕輔,河合利尚.
    • Organizer
      第6回関東甲越免疫不全症研究会
    • Place of Presentation
      東京医科歯科大学(東京都文京区)
    • Year and Date
      2015-09-27
    • Related Report
      2015 Research-status Report
  • [Presentation] 次世代シークエンサーを用いた原発性免疫不全症の迅速遺伝子診断法の確立2015

    • Author(s)
      加藤環,釜江智佳子,高島健浩,今井耕輔,小原収,野々山恵章
    • Organizer
      第6回関東甲越免疫不全症研究会
    • Place of Presentation
      東京医科歯科大学(東京都文京区)
    • Year and Date
      2015-09-27
    • Related Report
      2015 Research-status Report
  • [Presentation] 肝脾腫・高IgG血症を呈した9ヶ月男児2015

    • Author(s)
      岡野翼、渡辺恵理、西川拓郎、友田昴宏、久保田真理、宮本智史、高島健浩、満生紀子、高木正稔、今井耕輔、金兼弘和、河野嘉文、森尾友宏.
    • Organizer
      第6回関東甲越免疫不全症研究会
    • Place of Presentation
      東京医科歯科大学(東京都文京区)
    • Year and Date
      2015-09-27
    • Related Report
      2015 Research-status Report
  • [Presentation] 自己免疫性リンパ増殖性(ALPS)様疾患に対する全エクソン解析2015

    • Author(s)
      高木正稔、今井耕輔、朴今花、山下基、星野顕宏、岡野翼、金兼弘和、村松秀城、奥野友介、吉田健一、上野浩生、白石友一、千葉健一、田中洋子、宮野悟、小川誠司、林泰秀、小島勢二、森尾友宏.
    • Organizer
      第6回関東甲越免疫不全症研究会
    • Place of Presentation
      東京医科歯科大学(東京都文京区)
    • Year and Date
      2015-09-27
    • Related Report
      2015 Research-status Report
  • [Presentation] 肉芽腫性病変合併のCVIDとして治療を行っていたCTLA4遺伝子異常症の1例2015

    • Author(s)
      檜佐香織、鹿間芳明、野村滋、今川智之、今井耕輔、金兼弘和、森尾友宏
    • Organizer
      第6回関東甲越免疫不全症研究会
    • Place of Presentation
      東京医科歯科大学(東京都文京区)
    • Year and Date
      2015-09-27
    • Related Report
      2015 Research-status Report
  • [Presentation] 免疫不全症マススクリーニングの可能性(口頭)2015

    • Author(s)
      今井耕輔
    • Organizer
      第42日本マススクリーニング学会 学術集会
    • Place of Presentation
      大手町サンケイフラザ(東京都千代田区)
    • Year and Date
      2015-08-21
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] 毛細血管拡張性運動失調症の児に発症したサイトメガロウイルス脳炎(ポスター)2015

    • Author(s)
      小林千佳、松本和明、青木由貴、高木正稔、今井耕輔、梶原道子、森尾友宏
    • Organizer
      第118回日本小児科学学会学術集会
    • Place of Presentation
      大阪国際会議場(大阪府大阪市)
    • Year and Date
      2015-04-17
    • Related Report
      2015 Research-status Report
  • [Book] 原発性免疫不全症候群診療の手引き2017

    • Author(s)
      日本免疫不全症研究会
    • Total Pages
      139
    • Publisher
      診断と治療社
    • ISBN
      9784787822956
    • Related Report
      2017 Annual Research Report
  • [Book] 遺伝学的検査・診断・遺伝カウンセリングの上手な進めかた2016

    • Author(s)
      今井耕輔
    • Total Pages
      232
    • Publisher
      診断と治療社
    • Related Report
      2016 Research-status Report

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Published: 2015-04-16   Modified: 2022-01-24  

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