Yamada Masafumi 山田雅文

… Alternative Names

山田雅文ヤマダマサフミ

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Researcher Number	70435981
Other IDs
Affiliation (Current)	2025: 酪農学園大学, 農食環境学群, 教授
Affiliation (based on the past Project Information) *help	2022 – 2023: 酪農学園大学, 農食環境学群, 教授 2020 – 2021: 北海道大学, 医学研究院, 准教授
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords	Principal Investigator 予後の改善 / 治療 / 早期診断 / 治療法 / 適応拡大 / 全国調査 / 新規症例の診断 / 機能解析 / 遺伝子解析 / 遺伝性葉酸吸収不全症

遺伝性葉酸吸収不全症の早期の診断と治療開始による予後の改善を目的とした研究Principal Investigator
- Principal Investigator
  
  山田雅文
- Project Period (FY)
  2020 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Rakuno Gakuen University
  Hokkaido University

All 2024 2023 2022 2021 2020

All Journal Article Presentation

[Journal Article] A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome2024
- Author(s)
  Yukiko Takeda, Masahiro Ueki, et al.
- Journal Title
  
  Journal of Experimental Medicine
  
  Volume: 6 Issue: 6
- DOI
  10.1084/jem.20231941
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K15335, KAKENHI-PROJECT-20K08152
[Journal Article] Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open‐label, single‐arm, phase 3, and postmarketing clinical study2023
- Author(s)
  Onodera M, Uchiyama T, Ariga T, Yamada M, Miyamura T, Arizono H, and Morio T.
- Journal Title
  
  Immunity, Inflammation and Disease
  
  Volume: 11 Issue: 7
- DOI
  10.1002/iid3.917
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08152, KAKENHI-PROJECT-22K07951
[Journal Article] Generalized pustular psoriasis that developed in a patient with an <i>NFKB2</i> variant2023
- Author(s)
  Wada S, Namiki T, Ebata A, Takeichi T, Akiyama M, Yamada M, Hijikata A, Shimomura Y, Kanegane H, Okiyama N.
- Journal Title
  
  JDDG: Journal der Deutschen Dermatologischen Gesellschaft
  
  Volume: 22 Issue: 1 Pages: 118-120
- DOI
  10.1111/ddg.15273
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08152, KAKENHI-PROJECT-20K08648
[Journal Article] Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence2022
- Author(s)
  Sbihi Zineb、Tanita Kay、Bachelet Camille、Bole Christine、Jabot-Hanin Fabienne、…Isoda Takeshi（24人中20番目）、…、Kanegane Hirokazu、Latour Sylvain
- Journal Title
  
  Journal of Clinical Immunology
  
  Volume: 42 Issue: 3 Pages: 559-571
- DOI
  10.1007/s10875-021-01188-z
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21H02878, KAKENHI-PROJECT-20J10721, KAKENHI-PROJECT-20K08152, KAKENHI-PROJECT-22K07887
[Journal Article] Hematopoietic Cell Transplantation for Inborn Errors of Immunity Other than Severe Combined Immunodeficiency in Japan: Retrospective Analysis for 1985?20162022
- Author(s)
  Miyamoto Satoshi, Yamada Masafumi et al.
- Journal Title
  
  Journal of Clinical Immunology
  
  Volume: 42 Issue: 3 Pages: 529-545
- DOI
  10.1007/s10875-021-01199-w
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08152
[Journal Article] Absent X‐linked inhibitor of apoptosis protein expression in T cell blasts and causal mutations including non‐coding deletion2022
- Author(s)
  Abdrabou Shimaa Said Mohamed Ali、Toita Nariaki、Ichihara Shin、Tozawa Yusuke、Takahashi Michiko、Fujiwara Shin‐ichi、Ashida Toshifumi、Ohara Osamu、Ariga Tadashi、Manabe Atsushi、Konno Mutsuko、Yamada Masafumi
- Journal Title
  
  Pediatrics International
  
  Volume: 64 Issue: 1
- DOI
  10.1111/ped.14892
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08152
[Journal Article] Rheumatologic manifestations with elevated levels of IL-6, IL-17A, and IL-23 in a patient with scurvy2022
- Author(s)
  Ueki Masahiro、Sakamoto Keita、Nishioka Noriko、Ohata Hiroki、Nobuta Takiko、Takezaki Shunichiro、Manabe Atsushi、Yamada Masafumi
- Journal Title
  
  Modern Rheumatology Case Reports
  
  Volume: 7 Issue: 1 Pages: 302-306
- DOI
  10.1093/mrcr/rxac059
- Data Source
  KAKENHI-PROJECT-20K08152
[Journal Article] Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan.2022
- Author(s)
  Tanita K, Kawamura Y, Miura H, Mitsuiki N, Tomoda T, Inoue K, Iguchi A, Yamada M, Yoshida T, Muramatsu H, Tada N, Matsui T, Kato M, Eguchi K, Ishimura M, Ohga S, Imai K, Morio T, Yoshikawa T, Kanegane H.
- Journal Title
  
  Front Immunol.
  
  Volume: - Pages: 1-5
- DOI
  10.3389/fimmu.2022.786375
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20J10721, KAKENHI-PROJECT-20K08152
[Journal Article] Nonconditioned ADA-SCID gene therapy reveals ADA requirement in the hematopoietic system and clonal dominance of vector-marked clones.2021
- Author(s)
  Uchiyama T, Sirirat Takahashi S, Nakabayashi K, Okamura K, Edasawa K, Yamada M, Watanabe N, Mochizuki E, Yasuda T, Miura A, Kato K, Tomizawa D, Otsu M, ArigaT , Onodera M.
- Journal Title
  
  Molecular Therapy: Methods & Clinical Development
  
  Volume: 23 Pages: 424-433
- DOI
  10.1016/j.omtm.2021.10.003
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08312, KAKENHI-PROJECT-20K08152, KAKENHI-PROJECT-21K06143
[Journal Article] Macrolide/fluoroquinolone‐resistant Campylobacter jejuni‐induced cellulitis in a patient with X‐linked agammaglobulinaemia successfully treated with carbapenem2021
- Author(s)
  Youh Joohyung、Imafuku Keisuke、Yanagi Teruki、Nakakubo Sho、Mai Yosuke、Kosumi Hideyuki、Kawamura Takuya、Muramatsu Ken、Shiiya Chihiro、Kimura Ayame、Itamoto Sota、Yamada Masafumi、Ujiie Hideyuki
- Journal Title
  
  Dermatologic Therapy
  
  Volume: 34 Issue: 6 Pages: 1-3
- DOI
  10.1111/dth.15176
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08152
[Journal Article] Progressive multifocal leukoencephalopathy with mild clinical conditions and detection of archetype-like JC virus in cerebrospinal fluid2021
- Author(s)
  Iwami Kosuke、Nakamichi Kazuo、Matsushima Masaaki、Nagai Azusa、Shirai Shinichi、Nakakubo Sho、Takahashi-Iwata Ikuko、Yamada Masafumi、Yabe Ichiro
- Journal Title
  
  Journal of NeuroVirology
  
  Volume: 27 Issue: 6 Pages: 917-922
- DOI
  10.1007/s13365-021-01017-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08152, KAKENHI-PROJECT-21K07450
[Presentation] 白血球・好中球数減少と細菌感染症の反復を契機に診断し、TREC・ KREC低値であったWHIM症候群の乳児例2024
- Author(s)
  東悠太、植木将弘、山田雅文
- Organizer
  APSID-JSIAD 2024
- Data Source
  KAKENHI-PROJECT-20K08152
[Presentation] 北海道における脊髄性筋萎縮症スクリーニング2023
- Author(s)
  27. 花井潤師，三浦真之，田中稔泰，白石秀明，福村忍，高橋悟，山田雅文，長尾雅悦，棚橋祐典
- Organizer
  第50回日本マススクリーニング学会学術集会
- Data Source
  KAKENHI-PROJECT-20K08152
[Presentation] アデノシンデアミナーゼ欠損症における酵素補充療法による免疫再構築の評価2022
- Author(s)
  内山徹, 山田雅文, 宮村能子, 小野寺雅史
- Organizer
  第5回日本免疫不全・自己炎症学会総会
- Data Source
  KAKENHI-PROJECT-20K08152
[Presentation] 本邦におけるElapegademase 製剤使用中のADA欠損症の臨床像2022
- Author(s)
  宮村能子, 山田雅文, 内山徹, 小野寺雅史
- Organizer
  第5回日本免疫不全・自己炎症学会総会
- Data Source
  KAKENHI-PROJECT-20K08152
[Presentation] XIAP欠損症における臨床像と移行期医療における問題点2022
- Author(s)
  戸板成昭, Shimaa Said Abdrabou, 渡邊敏史, 藤原伸一, 高橋美智子, 真部淳, 山田雅文
- Organizer
  第5回日本免疫不全・自己炎症学会総会
- Data Source
  KAKENHI-PROJECT-20K08152
[Presentation] 低ガンマグロブリン血症と特発性門脈圧亢進症を合併したRAS関連自己免疫性リンパ球増殖症候群2022
- Author(s)
  大畑央樹, 竹崎俊一郎，信田大喜子，植木将弘，藤田祥二, 木田毅, 山田雅文
- Organizer
  第5回日本免疫不全・自己炎症学会総会
- Data Source
  KAKENHI-PROJECT-20K08152
[Presentation] 局在関連性てんかんから West症候群に移行した先天性葉酸吸収不全症の1 例2020
- Author(s)
  鈴木雄一，佐野秀樹，野寺真樹，加藤朝子，戸澤雄介，山田雅文，細矢光亮
- Organizer
  第62回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-20K08152

1. 磯田健志

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
2. 内山徹

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
3. 植木将弘

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Yamada Masafumi 山田 雅文

山田 雅文 ヤマダ マサフミ

Research Projects

Research Products

Co-Researchers

遺伝性葉酸吸収不全症の早期の診断と治療開始による予後の改善を目的とした研究Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome2024

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open‐label, single‐arm, phase 3, and postmarketing clinical study2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Generalized pustular psoriasis that developed in a patient with an <i>NFKB2</i> variant2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Hematopoietic Cell Transplantation for Inborn Errors of Immunity Other than Severe Combined Immunodeficiency in Japan: Retrospective Analysis for 1985?20162022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Absent X‐linked inhibitor of apoptosis protein expression in T cell blasts and causal mutations including non‐coding deletion2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Rheumatologic manifestations with elevated levels of IL-6, IL-17A, and IL-23 in a patient with scurvy2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan.2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Nonconditioned ADA-SCID gene therapy reveals ADA requirement in the hematopoietic system and clonal dominance of vector-marked clones.2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Macrolide/fluoroquinolone‐resistant Campylobacter jejuni‐induced cellulitis in a patient with X‐linked agammaglobulinaemia successfully treated with carbapenem2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Progressive multifocal leukoencephalopathy with mild clinical conditions and detection of archetype-like JC virus in cerebrospinal fluid2021

Author(s)

Journal Title

DOI

Data Source

[Presentation] 白血球・好中球数減少と細菌感染症の反復を契機に診断し、TREC・ KREC低値であったWHIM症候群の乳児例2024

Author(s)

Organizer

Data Source

[Presentation] 北海道における脊髄性筋萎縮症スクリーニング2023

Author(s)

Organizer

Data Source

[Presentation] アデノシンデアミナーゼ欠損症における酵素補充療法による免疫再構築の評価2022

Author(s)

Organizer

Data Source

[Presentation] 本邦におけるElapegademase 製剤使用中のADA欠損症の臨床像2022

Author(s)

Yamada Masafumi 山田雅文

山田雅文ヤマダマサフミ