Analysis of microbiota and molecular pathogenesis in primary immunodeficiency diseases

• Project/Area Number: 17K10099
• 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: Kanegane Hirokazu 東京医科歯科大学, 大学院医歯学総合研究科, 寄附講座教授 (00293324)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Project Status: Completed (Fiscal Year 2019)
• Budget Amount: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000); Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: 原発性免疫不全症 / 腸内細菌叢 / 炎症性腸疾患 / A20ハプロ不全症 / XIAP欠損症 / TNFAIP3ハプロ不全 / CTLA4ハプロ不全

Outline of Final Research Achievements

Primary immunodeficiency disease (PID) is an inherited disorder in which immune system is impaired. Clinical heterogeneity of PID may be associated with additional factors, although it has monogenic defect. We supposed that the heterogeneity of PID might be linked with aberrant intestinal microbiome. Therefore, we searched intestinal microbiome using next-generation sequencing in patients and their family members with A20 haploinsufficiency (HA20) and XIAP deficiency. A subset of bacteria might affect the pathogenesis of HA20. In XIAP-deficient patients with inflammatory bowel disease, intestinal microbiome was normalized after hematopoietic cell transplantation.

Academic Significance and Societal Importance of the Research Achievements

HA20とXIAP欠損症という限られたPIDであるが、腸内細菌叢がその病態形成に関わっていることが明らかになった。臨床的多様性を有する他のPIDについても腸内細菌叢を調べることによってその病態が明らかになることが期待される。また造血細胞移植の成功によって腸内細菌叢が正常化していることから、免疫の再構築と腸内細菌叢との関係が明らかとなった。今後はマウスモデルを用いて腸内細菌叢を調べることによって新規治療開発も期待される。

Research Products

• [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] Nationwide retrospective review of hematopoietic stem cell transplantation in children with refractory Langerhans cell histiocytosis (2020)
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  • Journal Title: International Journal of Hematology Volume: 111 Issue: 1 Pages: 137-148
  • DOI: 10.1007/s12185-019-02760-5
  • Peer Reviewed
• [Journal Article] X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic (2020)
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  • Journal Title: Eur J Pediatr Volume: 179 Issue: 2 Pages: 327-338
  • DOI: 10.1007/s00431-019-03512-7
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Early Surgery Is Feasible for a Very Large Congenital Infantile Fibrosarcoma Associated With Life Threatening Coagulopathy: A Case Report and Literature Review. (2019)
  • Author(s): Alias H, Abdul Rashid AH, Lau SCD, Loh C-K, Sapuan J, Ibrahim S, Md Zin RR, Chow YP, Kanegane H, Eguchi M
  • Journal Title: Frontiers in Pediatrics Volume: 7 Pages: 529-529
  • DOI: 10.3389/fped.2019.00529
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky?Pudlak syndrome type 2 (2019)
  • Author(s): Nishikawa Takuro、Okamura Ken、Moriyama Mizuki、Watanabe Kenji、Ibusuki Atsuko、Sameshima Seiji、Masamoto Izumi、Yamazaki Ieharu、Tanita Kay、Kanekura Takuro、Kanegane Hirokazu、Suzuki Tamio、Kawano Yoshifumi
  • Journal Title: The Journal of Dermatology Volume: 47 Issue: 2 Pages: 185-189
  • DOI: 10.1111/1346-8138.15177
  • Peer Reviewed / Open Access
• [Journal Article] S100A4 Protein Is Essential for the Development of Mature Microfold Cells in Peyer’s Patches (2019)
  • Author(s): Kunimura K, Sakata D, Tun X, Uruno T, Ushijima M, Katakai T, Shiraishi A, Aihara R, Kamikaseda Y, Matsubara K, Kanegane H, Sawa S, Eberl G, Ohga S, Yoshikai Y, Fukui Y.
  • Journal Title: Cell Reports Volume: 29 Issue: 9 Pages: 2823-2834
  • DOI: 10.1016/j.celrep.2019.10.091
  • Peer Reviewed / Open Access / Int'l Joint Research
• [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] Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome (2019)
  • Author(s): Yamauchi T, Takasawa K, Kamiya T, et al.
  • Journal Title: Pediatr Diabetes Volume: 20 Issue: 7 Pages: 1035-1040
  • DOI: 10.1111/pedi.12895
  • Peer Reviewed
• [Journal Article] Robust and highly efficient hiPSC generation from patient non-mobilized peripheral blood-derived CD34+ cells using the auto-erasable Sendai virus vector. (2019)
  • Author(s): Okumura T, Horie Y, et al.
  • Journal Title: Stem Cell Res Ther. Volume: 10 Issue: 1 Pages: 185-185
  • DOI: 10.1186/s13287-019-1273-2
  • Peer Reviewed / Open Access / Int'l Joint Research
• [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] Outcomes of children with hemophagocytic lymphohistiocytosis treated using HLH-2004 protocol in Japan (2019)
  • Author(s): Yanagaisawa R, Matsuda K, Ohga S, Kanegane H, Morimoto A, Saito AM, Horibe K, Ishii E, Nakazawa Y
  • Journal Title: International Journal of Hematology Volume: 109 Issue: 5 Pages: 612-617
  • DOI: 10.1007/s12185-019-02612-2
  • Peer Reviewed
• [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] An 18-Year-Old Male With X-linked Lymphoproliferative Syndrome Type 1 Who Developed Primary Central Nervous System Lymphoma 6 Months After Primary Epstein-Barr Virus Infection (2019)
  • Author(s): Kusano N, Sakata N, Sugimoto K, et al.
  • Journal Title: J Pediatr Hematol Oncol Volume: 41 Issue: 8 Pages: e538-e541
  • DOI: 10.1097/mph.0000000000001424
  • Peer Reviewed
• [Journal Article] X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world. (2019)
  • Author(s): El-Sayed ZA, Abramova I, Aldave JC, Al-Herz W, Bezrodnik L, Boukari R, Bousfiha AA, Cancrini C, Condino-Neto A, Dbaibo G, Derfalvi B, Dogu F, Edgar JDM, Eley B, El-Owaidy RH, Espinosa-Padilla SE, Galal N, Haerynck F, Hanna-Wakim R, Hossny E,et al.
  • Journal Title: World Allergy Organ J Volume: 12 Issue: 3 Pages: 100018-100018
  • DOI: 10.1016/j.waojou.2019.100018
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation (2019)
  • Author(s): Tanita K, Hoshino A, Imadome K, Kamiya T, Inoue K, Okano T, Yeh TW, Yanagimachi M, Shiraishi A, Ishimura M, Schober T, Rohlfs M, Takagi M, Imai K, Takada H, Ohga S, Klein C, Morio T, Kanegane H.
  • Journal Title: Front Pediatr Volume: 7 Pages: 15-15
  • DOI: 10.3389/fped.2019.00015
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1 (2019)
  • Author(s): Hoshino A, Yang X, Tanita K, Yoshida K, Ono T, Nishida N, Okuno Y, Kanzaki T, Goi K, Fujino H, Ohshima K, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Ogawa S, Kojima S, Morio T, Kanegane H.
  • Journal Title: J Allergy Clin Immunol Volume: 143 Issue: 1 Pages: 421-424
  • DOI: 10.1016/j.jaci.2018.07.044
  • Peer Reviewed / Open Access
• [Journal Article] Inflammatory bowel diseases and primary immunodeficiency diseases (2018)
  • Author(s): Kanegane H.
  • Journal Title: Immunol Med Volume: 41 Issue: 4 Pages: 154-161
  • DOI: 10.1080/25785826.2018.1556025
  • Peer Reviewed / Open Access
• [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] 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] Gain-of-function IKBKB mutation causes human combined immune deficiency (2018)
  • Author(s): Cardinez C, Miraghazadeh B, Tanita K, da Silva E, Hoshino A, Okada S, Chand R, Asano T, Tsumura M, Yoshida K, Ohnishi H, Kato Z, Yamazaki M, Okuno Y, Miyano S, Kojima S, Ogawa S, Andrews TD, Field MA, Burgio G,et al.
  • Journal Title: J Exp Med Volume: 215 Issue: 11 Pages: 2715-2724
  • DOI: 10.1084/jem.20180639
  • Peer Reviewed / Open Access / 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] IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation (2018)
  • Author(s): Moriya K, Sasahara Y, Ohnishi H, Kawai T, Kanegane H.
  • Journal Title: J Clin Immunol Volume: 38 Issue: 5 Pages: 543-545
  • DOI: 10.1007/s10875-018-0522-y
  • Peer Reviewed
• [Journal Article] Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency (2018)
  • Author(s): Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW,et al.
  • Journal Title: J Clin I)nvest Volume: 128 Issue: 7 Pages: 3071-3087
  • DOI: 10.1172/jci98164
  • Peer Reviewed / Open Access / Int'l Joint Research
• [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] 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] 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] Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. (2018)
  • Author(s): Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T.
  • Journal Title: Am J Hum Genet Volume: 102 Issue: 3 Pages: 480-486
  • DOI: 10.1016/j.ajhg.2018.01.019
  • NAID: 120006502505
  • Peer Reviewed / Open Access
• [Journal Article] Epstein-Barr Virus (EBV)-induced B-cell Lymphoproliferative Disorder Mimicking the Recurrence of EBV-associated Hemophagocytic Lymphohistiocytosis (2018)
  • Author(s): Yatsushiro Yuki、Nishikawa Takuro、Saito Aki、Nakazawa Yozo、Imadome Ken-Ichi、Nakagawa Shunsuke、Kodama Yuichi、Okamoto Yasuhiro、Kanegane Hirokazu、Kawano Yoshifumi
  • Journal Title: Journal of Pediatric Hematology and Oncology Volume: 0 Issue: 1 Pages: 1-1
  • DOI: 10.1097/mph.0000000000001075
  • 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: J Allergy Clin Immunol Volume: 141 Issue: 4 Pages: 1485-1488
  • DOI: 10.1016/j.jaci.2017.10.039
  • Peer Reviewed
• [Journal Article] Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study. (2018)
  • Author(s): Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing J, et al.
  • Journal Title: J Allergy Clin Immunol. Volume: 141 Issue: 3 Pages: 1036-1049
  • DOI: 10.1016/j.jaci.2017.10.041
  • Peer Reviewed / Open Access / Int'l Joint Research
• [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] 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 Issue: 2
  • DOI: 10.1002/pbc.26831
  • Peer Reviewed / Open Access
• [Journal Article] Flow cytometry-based diagnosis of primary immunodeficiency diseases (2018)
  • 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: Allergology International Volume: 67 Issue: 1 Pages: 43-54
  • DOI: 10.1016/j.alit.2017.06.003
  • NAID: 130006322088
  • ISSN: 1323-8930, 1440-1592
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency. (2018)
  • Author(s): Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS.
  • Journal Title: J Allergy Clin Immunol. Volume: 141 Issue: 3 Pages: 1060-1073
  • DOI: 10.1016/j.jaci.2017.05.030
  • Peer Reviewed / Int'l Joint Research
• [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: Eur J Haematol Volume: 99 Issue: 6 Pages: 525-531
  • DOI: 10.1111/ejh.12967
  • 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
  • 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 Issue: 5 Pages: 486-495
  • DOI: 10.1007/s10875-017-0405-7
  • Peer Reviewed
• [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 Issue: 5 Pages: 686
  • DOI: 10.1007/s12185-017-2187-3
  • Peer Reviewed / Acknowledgement Compliant
• [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: J Allergy Clin Immunol. Volume: - Issue: 1 Pages: 390-400
  • DOI: 10.1016/j.jaci.2016.09.029
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [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 Immunol. Volume: - Issue: 6 Pages: 31286-6
  • DOI: 10.1016/j.jaci.2016.09.038
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant