Institute of Science Tokyo · Institute for Advanced Studies

Research keywordsprimary immunodeficiency・DNA damage response・adaptive immunity・BTK deficiency・Bloom syndrome・ICF syndrome・whole exome sequencing・autoinflammatory disease

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• Sanami Takada, Tsubasa Okano, Kay Tanita, Kaima Tsukada, Masato Watanabe, Atsushi Hijikata, Takuya Naruto, Tzu-Wen Yeh, Saki Kasuga, Sadao Tokimasa, Mariko Taniguchi-Ikeda, Reina Ogata, Azusa Ikeda, Tomohide Goto, Hitoshi Osaka, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Mirjam van der Burg, Mikio Shimada, Hirokazu Kanegane. B-cell immunodeficiency associated with polynucleotide kinase 3'-phosphatase (PNKP) deficiency. J Allergy Clin Immunol Glob. 2025.08; 4 (3): 100514. ( PubMed , DOI )2025
• Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia 2024.01; ( DOI )2024
• Yuki Hitomi, Kazuko Ueno, Yoshihiro Aiba, Nao Nishida, Yosuke Kawai, Minae Kawashima, Seik-Soon Khor, Sanami Takada, Chisato Iwabuchi, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura. rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases HUMAN GENETICS. 2024.01; 143 (1): 19-33. ( PubMed , DOI )2024
• 高田 紗奈美, 神戸 直智. 【遺伝性皮膚疾患】クリオピリン関連周期熱症候群 皮膚科. 2024.01; 5 (1): 51-56. ( 医中誌 )2024

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