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Severe hepatic steatosis contributes to liver dysfunction in non-obese patients with insulin-resistant diabetes mellitus after hematopoietic stem cell transplantation 重度肝脂肪变性导致非肥胖性胰岛素抵抗糖尿病患者在造血干细胞移植后出现肝功能障碍 Yamano, Haruki; Kagawa, Reiko; Saito, Yoko; Iemura, Ryosei; Adachi, Eriko; Maki, Gau; Yamauchi, Takeru; Nakagawa, Ryuichi; Sutani, Akito; Takishima, Shigeru; Kitahata, Fukiko; Murakawa, Miyako; Isoda, Takeshi; Kamiya, Takahiro; Okada, Satoshi; Morio, Tomohiro; Takasawa, Kei; Kashimada, Kenichi 分享 收藏
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Comprehensive flow cytometry-based diagnosis of XIAP deficiency 基于流式细胞术的X连锁凋亡抑制蛋白缺乏症的综合诊断 Tomomasa, Dan; Nishimura, Madoka; Ohya, Ayami; Tanita, Kay; Wakatsuki, Ryosuke; Watanabe, Ryohei; Miyamoto, Satoshi; Hoshino, Akihiro; Kamiya, Takahiro; Isoda, Takeshi; Kaneko, Shuya; Shimizu, Masaki; Hijikata, Atsushi; Eguchi, Katsuhide; Ishimura, Masataka; Maeda, Yukako; Izawa, Kazushi; Meguro, Takaaki; Fujimoto, Kosuke; Ishikita-Murayama, Etsuko; Suzuki, Kyogo; Okura, Eri; Uehara, Tomoko; Takayama, Tomotada; Okada, Satoshi; Takagi, Masatoshi; Morio, Tomohiro; Marsh, Rebecca A.; Kanegane, Hirokazu 分享 收藏
Co-expression of B7-H3 and LAG3 represents cytotoxicity of CD4+ T cells in humans Tamura, Yumi; Ohki, Shun; Nagai, Haruna; Yoshizato, Rin; Nishi, Shizuki; Jin, Yuqi; Kitajima, Yasuo; Guo, Yun; Ichinohe, Tatsuo; Okada, Satoshi; Kawano, Yohei; Yasuda, Tomoharu 分享 收藏
Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette-Guerin osteomyelitis Lim, Qin Ying; Leung, Daniel; Lam, Crystal K.; Yang, Xingtian; Cheong, Kai N.; Yik, Andrew K. H.; Yang, Jing; Chan, Koon-Wing; Lee, Pamela P. W.; Tsumura, Miyuki; Au, Elaine Y. L.; Duque, Jaime S. Rosa; Okada, Satoshi; Lau, Yu Lung 分享 收藏
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cells 原发性免疫缺陷揭示了产生和维持人类CD4+ IL-9表达细胞的分子需求 Rao, Geetha; Mack, Corinne D.; Nguyen, Tina; Wong, Natalie; Payne, Kathryn; Worley, Lisa; Gray, Paul E.; Wong, Melanie; Hsu, Peter; Stormon, Michael O.; Preece, Kahn; Suan, Daniel; O'Sullivan, Michael; Blincoe, Annaliesse K.; Sinclair, Jan; Okada, Satoshi; Hambleton, Sophie; Arkwright, Peter D.; Boztug, Kaan; Stepensky, Polina; Cooper, Megan A.; Bezrodnik, Liliana; Nadeau, Kari C.; Abraham, Roshini S.; Seppanen, Mikko R. J.; Bustamante, Jacinta; Forbes, Lisa R.; Leiding, Jennifer W.; Meyts, Isabelle; Jouanguy, Emmanuelle; Boisson-Dupuis, Stephanie; Uzel, Gulbu; Tangye, Stuart G.; Ma, Cindy S. 分享 收藏
Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party Buso, Helena; Adam, Etai; Arkwright, Peter D.; Bhattad, Sagar; Hamidieh, Amir Ali; Behfar, Maryam; Belot, Alexandre; Benezech, Sarah; Chan, Alice Y.; Crow, Yanick J.; Dvorak, Christopher C.; Flinn, Aisling M.; Kapoor, Urvi; Lankester, Arjan; Kobayashi, Masao; Matsumura, Risa; Mottaghipisheh, Hadi; Okada, Satoshi; Ouachee, Marie; Parvaneh, Nima; Ramprakash, Stalin; Satwani, Prakash; Sharafian, Samin; Triaille, Clement; Wynn, Robert F.; Movahedi, Nasim; Ziaee, Vahid; Williams, Eleri; Slatter, Mary; Gennery, Andrew R. 分享 收藏
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity 用于先天性免疫缺陷的非靶向蛋白质组学新生儿筛查平台 Shibata, Hirofumi; Nakajima, Daisuke; Konno, Ryo; Hijikata, Atsushi; Higashiguchi, Motoko; Nihira, Hiroshi; Shimodera, Saeko; Miyamoto, Takayuki; Nishitani-Isa, Masahiko; Hiejima, Eitaro; Izawa, Kazushi; Takita, Junko; Heike, Toshio; Okamura, Ken; Ohnishi, Hidenori; Ishimura, Masataka; Okada, Satoshi; Yamashita, Motoi; Morio, Tomohiro; Kanegane, Hirokazu; Imai, Kohsuke; Nakamura, Yasuko; Nonoyama, Shigeaki; Uchiyama, Toru; Onodera, Masafumi; Nishikomori, Ryuta; Ohara, Osamu; Kawashima, Yusuke; Yasumi, Takahiro 分享 收藏
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Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases 色素失禁是胸腺发育不良，I型ifn自身抗体和病毒性疾病的基础 Rosain, Jeremie; Le Voyer, Tom; Liu, Xian; Gervais, Adrian; Polivka, Laura; Cederholm, Axel; Berteloot, Laureline; Parent, Audrey V.; Pescatore, Alessandra; Spinosa, Ezia; Minic, Snezana; Kiszewski, Ana Elisa; Tsumura, Miyuki; Thibault, Chloe; Azcoiti, Maria Esnaola; Martinovic, Jelena; Philippot, Quentin; Khan, Taushif; Marchal, Astrid; Charmeteau-De Muylder, Benedicte; Bizien, Lucy; Deswarte, Caroline; Hadjem, Lillia; Fauvarque, Marie-Odile; Dorgham, Karim; Eriksson, Daniel; Falcone, Emilia Liana; Puel, Mathilde; Uenal, Sinem; Geraldo, Amyrath; Le Floc'h, Corentin; Li, Hailun; Rheault, Sylvie; Muti, Christine; Bobrie-Moyrand, Claire; Welfringer-Morin, Anne; Fuleihan, Ramsay L.; Levy, Romain; Roelens, Marie; Gao, Liwei; Materna, Marie; Pellegrini, Silvia; Piemonti, Lorenzo; Catherinot, Emilie; Goffard, Jean-Christophe; Fekkar, Arnaud; Sacko-Sow, Aissata; Soudee, Camille; Boucherit, Soraya; Neehus, Anna-Lena; Has, Cristina; Huebner, Stefanie; Blanchard-Rohner, Geraldine; Amador-Borrero, Blanca; Utsumi, Takanori; Taniguchi, Maki; Tani, Hiroo; Izawa, Kazushi; Yasumi, Takahiro; Kanai, Sotaro; Migaud, Melanie; Aubart, Melodie; Lambert, Nathalie; Gorochov, Guy; Picard, Capucine; Soudais, Claire; L'Honneur, Anne-Sophie; Rozenberg, Flore; Milner, Joshua D.; Zhang, Shen-Ying; Vabres, Pierre; Trpinac, Dusan; Marr, Nico; Boddaert, Nathalie; Desguerre, Isabelle; Pasparakis, Manolis; Miller, Corey N.; Poziomczyk, Claudia S.; Abel, Laurent; Okada, Satoshi; Jouanguy, Emmanuelle; Cheynier, Remi; Zhang, Qian; Cobat, Aurelie; Beziat, Vivien; Boisson, Bertrand; Steffann, Julie; Fusco, Francesca; Ursini, Matilde Valeria; Hadj-Rabia, Smail; Bodemer, Christine; Bustamante, Jacinta; Luche, Herve; Puel, Anne; Courtois, Gilles; Bastard, Paul; Landegren, Nils; Anderson, Mark S.; Casanova, Jean-Laurent 分享 收藏
Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations Lei, Wei-Te; Lo, Yu-Fang; Tsumura, Miyuki; Ding, Jing-Ya; Lo, Chia-Chi; Lin, You-Ning; Wang, Chuang-Wei; Liu, Lu-Hang; Shih, Han-Po; Peng, Jhan-Jie; Wu, Tsai-Yi; Chan, Yu-Pei; Kang, Chen-Xuan; Wang, Shang-Yu; Kuo, Chen-Yen; Tu, Kun-Hua; Yeh, Chun-Fu; Hsieh, Ya-Ju; Asano, Takaki; Chung, Wen-Hung; Okada, Satoshi; Ku, Cheng-Lung 分享 收藏
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