論文・総説 - 山下　基

1. Ikuo Okuchi, Akira Nishimura, Takahiro Kamiya, Makiko Sasaki, Motoi Yamashita, Akihiro Hoshino, Michiko Kajiwara, Takeshi Isoda, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi. Monitoring measurable residual disease in NUP98::NSD1-positive acute myeloid leukemia. Pediatr Int. 2025; 67 (1): e15859. ( PubMed, DOI )

2. Yuichi Nagamatsu, Takeshi Isoda, Motoki Inaji, Jun Oyama, Daiki Niizato, Dan Tomomasa, Noriko Mitsuiki, Motoi Yamashita, Takahiro Kamiya, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi. Intracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report. BMC Pediatr. 2024.05; 24 (1): 304. ( PubMed, DOI )

3. Motoi Yamashita, Takahiro Tomoda, Ami Mizuo, Takeshi Isoda, Makiko Egawa, Masayuki Yoshida, Tsutomu Toki, Ko Kudo, Kiminori Terui, Etsuro Ito, Tomohiro Morio, Masatoshi Takagi. Transient erythroblastopenia due to a GATA1 variant in an infant female. Pediatr Blood Cancer. 2023.12; e30834. ( PubMed, DOI )

4. Motoi Yamashita, Masae Kuroha, Yuko Kinowawki, Nao Kashiwagi, Kotaro Watanabe, Mika Nagase, Daiki Niizato, Noriko Mitsuiki, Takeshi Isoda, Takahiro Kamiya, Atsuko Arisaka, Motoki Inaji, Kenichi Ohashi, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Masatoshi Takagi. A SAMD5-SASH1 fusion in solitary infantile myofibromatosis. Pediatr Blood Cancer. 2023.03; e30278. ( PubMed, DOI )

5. Dan Tomomasa, Takeshi Isoda, Noriko Mitsuiki, Kento Inoue, Akira Nishimura, Kazuhiro Uda, Toru Uchiyama, Motoi Yamashita, Takahiro Kamiya, Akifumi Endo, Masatoshi Takagi, Kohsuke Imai, Michiko Kajiwara, Morton J Cowan, Tomohiro Morio, Hirokazu Kanegane. Successful TCRαβ/CD19-Depleted Hematopoietic Cell Transplantation for a Patient With Artemis Deficiency. J Pediatr Hematol Oncol. 2023.02; ( PubMed, DOI )

6. Yamaguchi Y, Takasawa K, Irabu H, Hiratoko K, Ichigi Y, Hirata K, Tamura Y, Murakoshi M, Yamashita M, Nakatani H, Shimoda M, Ishii T, Udagawa T, Shimizu M, Kanegane H, Morio T. Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child. Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy. 2022.01; ( PubMed, DOI )

7. Yeh Tzu-Wen, Okano Tsubasa, Naruto Takuya, Yamashita Motoi, Okamura Miko, Tanita Kay, Du Likun, Pan-Hammarstrom Qiang, Mitsuiki Noriko, Okada Satoshi, Kanegane Hirokazu, Imai Kohsuke, Morio Tomohiro. APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2020.11; 146 (5): 1109-+. ( PubMed, DOI )

8. Inoue Maiko, Isoda Takeshi, Yamashita Motoi, Tomoda Takahiro, Inoue Kento, Okano Tsubasa, Ohkawa Teppei, Endo Akifumi, Mitsuiki Noriko, Kamiya Takahiro, Yanagimachi Masakatsu, Yamamoto Kouhei, Inaba Yuichiro, Sasaki Toru, Takagi Masatoshi, Kanegane Hirokazu, Imai Kohsuke, Morio Tomohiro. Cytomegalovirus Laryngitis in Primary Combined Immunodeficiency Diseases JOURNAL OF CLINICAL IMMUNOLOGY. 2020.10; 41 (1): 243-247. ( PubMed, DOI )

9. Okano Tsubasa, Imai Kohsuke, Naruto Takuya, Okada Satoshi, Yamashita Motoi, Yeh Tzu-wen, Ono Shintaro, Tanaka Keisuke, Okamoto Keisuke, Tanita Kay, Matsumoto Kazuaki, Toyofuku Etsushi, Kumaki-Matsumoto Eri, Okamura Miko, Ueno Hiroo, Ogawa Seishi, Ohara Osamu, Takagi Masatoshi, Kanegane Hirokazu, Morio Tomohiro. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity JOURNAL OF CLINICAL IMMUNOLOGY. 2020.07; 40 (5): 729-740. ( PubMed, DOI )

10. Yamashita Motoi, Wakatsuki Ryosuke, Kato Tamaki, Okano Tsubasa, Yamanishi Shingo, Mayumi Nobuko, Tanaka Mayuri, Ogura Yumi, Kanegane Hirokazu, Nonoyama Shigeaki, Imai Kohsuke, Morio Tomohiro. A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency INTERNATIONAL JOURNAL OF HEMATOLOGY. 2019.05; 109 (5): 603-611. ( PubMed, DOI )

11. Miyamoto C, Kojo S, Yamashita M, Moro K, Lacaud G, Shiroguchi K, Taniuchi I, Ebihara T. Runx/Cbfβ complexes protect group 2 innate lymphoid cells from exhausted-like hyporesponsiveness during allergic airway inflammation. Nature communications. 2019.01; 10 (1): 447. ( PubMed, DOI )

12. 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, Morio T. Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing. International journal of hematology. 2018.09; 108 (3): 319-328. ( PubMed, DOI )

13. Hoshino Akihiro, Takashima Takehiro, Yoshida Kenichi, Morimoto Akira, Kawahara Yuta, Yeh Tzu-Wen, Okano Tsubasa, Yamashita Motoi, Mitsuiki Noriko, Imai Kohsuke, Sakatani Takashi, Nakazawa Atsuko, Okuno Yusuke, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Ogawa Seishi, Kojima Seiji, Morio Tomohiro, Kanegane Hirokazu. Dysregulation of Epstein-Barr Virus Infection in Hypomorphic ZAP70 Mutation JOURNAL OF INFECTIOUS DISEASES. 2018.09; 218 (5): 825-834. ( PubMed, DOI )

14. 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. Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases JOURNAL OF CLINICAL IMMUNOLOGY. 2018.04; 38 (3): 300-306. ( PubMed, DOI )

15. Takagi Masatoshi, Hoshino Akihiro, Yoshida Kenichi, Ueno Hiroo, Imai Kohsuke, Piao Jinhua, Kanegane Hirokazu, Yamashita Motoi, Okano Tsubasa, Muramatsu Hideki, Okuno Yusuke, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Ogawa Seishi, Hayashi Yasuhide, Kojima Seiji, Morio Tomohiro. Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation Pediatr Blood Cancer. 2018.02; 65 (2): e26831.

16. Kanegane Hirokazu, Hoshino Akihiro, Okano Tsubasa, Yasumi Takahiro, Wada Taizo, Takada Hidetoshi, Okada Satoshi, Yamashita Motoi, Yeh Tzu-wen, Nishikomori Ryuta, Takagi Masatoshi, Imai Kohsuke, Ochs Hans D., Morio Tomohiro. Flow cytometry-based diagnosis of primary immunodeficiency diseases ALLERGOLOGY INTERNATIONAL. 2018.01; 67 (1): 43-54. ( PubMed, DOI )

17. Okano Tsubasa, Nishikawa Takuro, Watanabe Eri, Watanabe Takashi, Takashima Takehiro, Yeh Tzu-Wen, Yamashita Motoi, Tanaka-Kubota Mari, Miyamoto Satoshi, Mitsuiki Noriko, Takagi Masatoshi, Kawano Yoshifumi, Mochizuki Yoshiki, Imai Kohsuke, Kanegane Hirokazu, Morio Tomohiro. Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy CLINICAL IMMUNOLOGY. 2017.10; 183 112-120. ( PubMed, DOI )

18. Hoshino Akihiro, Okada Satoshi, Yoshida Kenichi, Nishida Naonori, Okuno Yusuke, Ueno Hiroo, Yamashita Motoi, Okano Tsubasa, Tsumura Miyuki, Nishimura Shiho, Sakata Sonoko, Kobayashi Masao, Nakamura Haruna, Kamizono Junji, Mitsui-Sekinaka Kanako, Ichimura Takuya, Ohga Shouichi, Nakazawa Yozo, Takagi Masatoshi, Imai Kohsuke, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Ogawa Seishi, Kojima Seiji, Nonoyama Shigeaki, Morio Tomohiro, Kanegane Hirokazu. Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2017.07; 140 (1): 223-231. ( PubMed, DOI )

19. Takashima Takehiro, Okamura Miko, Yeh Tzu-wen, Okano Tsubasa, Yamashita Motoi, Tanaka Keisuke, Hoshino Akihiro, Mitsuiki Noriko, Takagi Masatoshi, Ishii Eiichi, Imai Kohsuke, Kanegane Hirokazu, Morio Tomohiro. Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases JOURNAL OF CLINICAL IMMUNOLOGY. 2017.07; 37 (5): 486-495. ( PubMed, DOI )

20. Takagi Masatoshi, Ogata Shohei, Ueno Hiroo, Yoshida Kenichi, Yeh Tzuwen, Hoshino Akihiro, Piao Jinhua, Yamashita Motoy, Nanya Mai, Okano Tsubasa, Kajiwara Michiko, Kanegane Hirokazu, Muramatsu Hideki, Okuno Yusuke, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Bando Yuki, Kato Motohiro, Hayashi Yasuhide, Miyano Satoru, Imai Kohsuke, Ogawa Seishi, Kojima Seiji, Morio Tomohiro. Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2017.06; 139 (6): 1914-1922. ( DOI )

21. Sato Takeshi, Okano Tsubasa, Tanaka-Kubota Mari, Kimura Shunsuke, Miyamoto Satoshi, Ono Shintaro, Yamashita Motoi, Mitsuiki Noriko, Takagi Masatoshi, Imai Kohsuke, Kajiwara Michiko, Ebato Takasuke, Ogata Shohei, Oda Hirotsugu, Ohara Osamu, Kanegane Hirokazu, Morio Tomohiro. Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency PEDIATRICS INTERNATIONAL. 2016.10; 58 (10): 1076-1080. ( PubMed, DOI )

22. Elkaim Elodie, Neven Benedicte, Bruneau Julie, Mitsui-Sekinaka Kanako, Stanislas Aurelie, Heurtier Lucie, Lucas Carrie L., Matthews Helen, Deau Marie-Celine, Sharapova Svetlana, Curtis James, Reichenbach Janine, Glastre Catherine, Parry David A., Arumugakani Gururaj, McDermott Elizabeth, Kilic Sara Sebnem, Yamashita Motoi, Moshous Despina, Lamrini Hicham, Otremba Burkhard, Gennery Andrew, Coulter Tanya, Quinti Isabella, Stephan Jean-Louis, Lougaris Vassilios, Brodszki Nicholas, Barlogis Vincent, Asano Takaki, Galicier Lionel, Boutboul David, Nonoyama Shigeaki, Cant Andrew, Imai Kohsuke, Picard Capucine, Nejentsev Sergey, Molina Thierry Jo, Lenardo Michael, Savic Sinisa, Cavazzana Marina, Fischer Alain, Durandy Anne, Kracker Sven. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase delta syndrome 2: A cohort study JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2016.07; 138 (1): 210-+. ( PubMed, DOI )

23. Ikegame Kazuhiro, Imai Kohsuke, Yamashita Motoi, Hoshino Akihiro, Kanegane Hirokazu, Morio Tomohiro, Kaida Katsuji, Inoue Takayuki, Soma Toshihiro, Tamaki Hiroya, Okada Masaya, Ogawa Hiroyasu. Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity JOURNAL OF HEMATOLOGY & ONCOLOGY. 2016.02; 9 (1): 9. ( PubMed, DOI )

24. 山下基. 【研修医と指導医に贈る　小児科学研究・論文のススメ】活躍する小児科physician-scientistsの研究　大学院生編　大学院での研究生活 小児科診療. 2020.07; 83 (7): 913-918. ( 医中誌 )

25. 山下基, 森尾友宏. 【変わりつつある免疫不全症】免疫不全症の診断　免疫不全症の国際分類up-to-date 小児科診療. 2020.03; 83 (3): 287-298. ( 医中誌 )

26. 山下 基, 森尾 友宏. 【小児科医に必要な免疫の知識】総論　免疫系を構成する細胞・細胞亜群とその機能　B細胞 小児内科. 2019.08; 51 (8): 1081-1084. ( 医中誌 )

27. 星野 顕宏, 山下 基, 森尾 友宏, 金兼 弘和. Ikaros zinc finger protein family(IKZF)と自己免疫 臨床免疫・アレルギー科. 2018.12; 70 (6): 642-648. ( 医中誌 )

28. 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. Epstein-Barrウイルス関連血球貪食性リンパ組織球症にリツキシマブが奏功したX連鎖リンパ増殖症候群1型の一例 日本小児血液・がん学会雑誌. 2017.04; 54 (1): 25-29. ( 医中誌 )

29. 池上 雄亮, 吉田 さやか, 堀田 有希, 田口 真輝, 大仲 雅之, 鈴木 里香, 橋本 直樹, 山下 基, 岡野 翼, 高島 健浩, 星野 顕宏, 今井 耕輔, 金兼 弘和, 森尾 友宏. γグロブリン皮下注射が有効であった分類不能型免疫不全症の1例 奈良県総合医療センター医学雑誌. 2016.03; 20 (1): 103-106. ( 医中誌 )

30. 山下 基, 今井 耕輔, 金兼 弘和. 【免疫症候群(第2版)-その他の免疫疾患を含めて-】原発性免疫不全症候群　複合免疫不全症　T-B+重症複合免疫不全症(SCID)　JAK3欠損症 日本臨床. 2016.03; 78 (1190): 20-24. ( 医中誌 )

31. 山下 基, 森尾 友宏. 【免疫症候群(第2版)-その他の免疫疾患を含めて-】原発性免疫不全症候群　複合免疫不全症　SCIDよりも軽症な複合免疫不全症　OX40欠損症 日本臨床. 2016.03; 78 (1190): 151-154. ( 医中誌 )

32. 山下 基, 森尾 友宏. 【免疫症候群(第2版)-その他の免疫疾患を含めて-】原発性免疫不全症候群　複合免疫不全症　SCIDよりも軽症な複合免疫不全症　IKBKB欠損症 日本臨床. 2016.03; 78 (1190): 155-157. ( 医中誌 )

33. 山下 基, 森尾 友宏. 【免疫症候群(第2版)-その他の免疫疾患を含めて-】原発性免疫不全症候群　複合免疫不全症　SCIDよりも軽症な複合免疫不全症　CARD11欠損症 日本臨床. 2016.03; 78 (1190): 143-146. ( 医中誌 )

34. 山下 基, 森尾 友宏. 【免疫症候群(第2版)-その他の免疫疾患を含めて-】原発性免疫不全症候群　複合免疫不全症　SCIDよりも軽症な複合免疫不全症　BCL10欠損症 日本臨床. 2016.03; 78 (1190): 147-150. ( 医中誌 )