日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Serum Cytokine Profiling Differentiates Underlying Diseases in Cytokine Storm Syndrome

血清细胞因子谱分析可鉴别细胞因子风暴综合征的潜在疾病

Kaneko, Shuya; Hatano, Maho; Shimbo, Asami; Miyaoka, Futaba; Irabu, Hitoshi; Akutsu, Yuko; Hayashi, Yuko; Mizuta, Mao; Nakagishi, Yasuo; Akamine, Keiji; Iwata, Naomi; Furuno, Kenji; Tanaka, Takayuki; Ueno, Kazuyuki; Fujita, Shuhei; Yokoyama, Koji; Minato, Toshinori; Izawa, Kazushi; Yasumi, Takahiro; Matsubayashi, Tadashi; Hosoya, Tadashi; Nishikawa, Hiroki; Fujimura, Junya; Asano, Ryoko; Sugita, Yuko; Watanabe, Kenichi; Kobayashi, Anna; Endo, Takuya; Eguchi, Katsuhide; Nishikomori, Ryuta; Yasuoka, Ryuhei; Asano, Takaki; Kanno, Miyako; Hamada, Kazuya; Fujita, Yuji; Hayashi, Daisuke; Watanabe, Shojiro; Shiba, Takeshi; Yasuda, Shinsuke; Mori, Masaaki; Kanegane, Hirokazu; Takagi, Masatoshi; Shimizu, Masaki

Identification of a novel TLR7 gain-of-function variant that underlies systemic lupus erythematosus

鉴定出一种导致系统性红斑狼疮的新型TLR7功能获得性变异

Sethumadhavan, Aiswarya; Mariasoosai, Charles; Yamakawa, Natsuko; Chamberlain, Nicolas; Deardorff, Matthew A; Funaki, Shintaro; Asano, Takaki; Casanova, Jean-Laurent; Torabifard, Hedieh; Boisson, Bertrand; Meffre, Eric

Monoallelic mutations in MMD2 cause autosomal dominant aggressive periodontitis.

MMD2基因的单等位基因突变会导致常染色体显性遗传的侵袭性牙周炎

Iwata Tomoyuki, Mizoguchi Yoko, Yoshimoto Tetsuya, Tsumura Miyuki, Sakura Fumiaki, Johnson Jeffrey R, Matsuda Shinji, Ouhara Kazuhisa, Nagatani Yukiko, Asano Takaki, Ohnishi Hidenori, Kato Zenichiro, Mihara Keichiro, Kanegane Hirokazu, Ueda Tomoya, Sasaki Shinya, Taniguchi Yuri, Ninomiya Yurika, Ohno Yoshinori, Suzuki-Takedachi Kyoko, Sotomaru Yusuke, Sakuma Tetsushi, Yamamoto Takashi, Matsuda Yukiko, Kume Kodai, Sanui Terukazu, Nishimura Fusanori, Kajiya Mikihito, Ueki Yasuyoshi, Kurihara Hidemi, Morino Hiroyuki, Okada Satoshi, Kawakami Hideshi, Mizuno Noriyoshi

Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.

精细定位导致常染色体显性高IgE综合征的杂合IL6ST无义变异

Ashihara Kosuke, Asano Takaki, Takeuchi Kanako, Noma Kosuke, Tsumura Miyuki, Wang Wenjie, Lei Wei-Te, Higo Hisao, Kubo Toshio, Mizoguchi Yoko, Karakawa Shuhei, Cobat Aurélie, Conil Clément, Toyofuku Etsushi, Sekine Akimasa, Imai Kohsuke, Bogunovic Dusan, Casanova Jean-Laurent, Ku Cheng-Lung, Béziat Vivien, Okada Satoshi

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation

STAT3 N 端结构域突变家族中的肺曲霉病和低 HIES 评分

Lima de Souza, Suiane; Asano, Takaki; Glumoff, Virpi; Keskitalo, Salla; Pikkarainen, Keela; Martelius, Timi; Kaustio, Meri; Saarela, Janna; Kuismin, Outi; Lappi-Blanco, Elisa; Jartti, Airi; Yannopoulos, Fredrik; Tiitto, Leena; Seppänen, Mikko R J; Boisson, Bertrand; Casanova, Jean-Laurent; Varjosalo, Markku; Hautala, Timo; Chen, Zhi

A Novel Hypomorphic STAT3 Gene Variant in a 7-year-old Male with Hyper-IgE Syndrome

一名患有高IgE综合征的7岁男性携带一种新的STAT3基因低活性变异

Higashigawa, Tomoko; Ikeyama, Yukiko; Ashihara, Kosuke; Asano, Takaki; Okada, Satoshi; Miwa, Yuki; Sugiura, Katsumi; Ohnishi, Hidenori

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

更正:罕见的I型干扰素免疫基因功能丧失预测变异与危及生命的COVID-19相关。

Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Tayoun, Ahmad Abou; Aiuti, Alessandro; Darazam, Ilad Alavi; Allende, Luis M; Alonso-Arias, Rebeca; Arias, Andrés Augusto; Aytekin, Gokhan; Bergman, Peter; Bondesan, Simone; Bryceson, Yenan T; Bustos, Ingrid G; Cabrera-Marante, Oscar; Carcel, Sheila; Carrera, Paola; Casari, Giorgio; Chaïbi, Khalil; Colobran, Roger; Condino-Neto, Antonio; Covill, Laura E; Delmonte, Ottavia M; Zein, Loubna El; Flores, Carlos; Gregersen, Peter K; Gut, Marta; Haerynck, Filomeen; Halwani, Rabih; Hancerli, Selda; Hammarström, Lennart; Hatipoğlu, Nevin; Karbuz, Adem; Keles, Sevgi; Kyheng, Christèle; Leon-Lopez, Rafael; Franco, Jose Luis; Mansouri, Davood; Martinez-Picado, Javier; Akcan, Ozge Metin; Migeotte, Isabelle; Morange, Pierre-Emmanuel; Morelle, Guillaume; Martin-Nalda, Andrea; Novelli, Giuseppe; Novelli, Antonio; Ozcelik, Tayfun; Palabiyik, Figen; Pan-Hammarström, Qiang; de Diego, Rebeca Pérez; Planas-Serra, Laura; Pleguezuelo, Daniel E; Prando, Carolina; Pujol, Aurora; Reyes, Luis Felipe; Rivière, Jacques G; Rodriguez-Gallego, Carlos; Rojas, Julian; Rovere-Querini, Patrizia; Schlüter, Agatha; Shahrooei, Mohammad; Sobh, Ali; Soler-Palacin, Pere; Tandjaoui-Lambiotte, Yacine; Tipu, Imran; Tresoldi, Cristina; Troya, Jesus; van de Beek, Diederik; Zatz, Mayana; Zawadzki, Pawel; Al-Muhsen, Saleh Zaid; Alosaimi, Mohammed Faraj; Alsohime, Fahad M; Baris-Feldman, Hagit; Butte, Manish J; Constantinescu, Stefan N; Cooper, Megan A; Dalgard, Clifton L; Fellay, Jacques; Heath, James R; Lau, Yu-Lung; Lifton, Richard P; Maniatis, Tom; Mogensen, Trine H; von Bernuth, Horst; Lermine, Alban; Vidaud, Michel; Boland, Anne; Deleuze, Jean-François; Nussbaum, Robert; Kahn-Kirby, Amanda; Mentre, France; Tubiana, Sarah; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Meyts, Isabelle; Zhang, Shen-Ying; Puel, Anne; Notarangelo, Luigi D; Boisson-Dupuis, Stephanie; Su, Helen C; Boisson, Bertrand; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Zhang, Qian; Abel, Laurent; Cobat, Aurélie

Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency

常染色体显性遗传E47缺乏症中p.E555K显性负性变异的独特特征

Utsumi, Takanori; Tsumura, Miyuki; Yashiro, Masato; Kato, Zenichiro; Noma, Kosuke; Sakura, Fumiaki; Kagawa, Reiko; Mizoguchi, Yoko; Karakawa, Shuhei; Ohnishi, Hidenori; Cunningham-Rundles, Charlotte; Arkwright, Peter D; Kobayashi, Masao; Kanegane, Hirokazu; Bogunovic, Dusan; Boisson, Bertrand; Casanova, Jean-Laurent; Asano, Takaki; Okada, Satoshi

Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency

更正:p.E555K显性负性变异在常染色体显性E47缺乏症中的独特特征

Utsumi, Takanori; Tsumura, Miyuki; Yashiro, Masato; Kato, Zenichiro; Noma, Kosuke; Sakura, Fumiaki; Kagawa, Reiko; Mizoguchi, Yoko; Karakawa, Shuhei; Ohnishi, Hidenori; Cunningham-Rundles, Charlotte; Arkwright, Peter D; Kobayashi, Masao; Kanegane, Hirokazu; Bogunovic, Dusan; Boisson, Bertrand; Casanova, Jean-Laurent; Asano, Takaki; Okada, Satoshi

Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1

STAT1基因功能丧失或获得性种系突变导致的先天性免疫缺陷

Asano, Takaki; Utsumi, Takanori; Kagawa, Reiko; Karakawa, Shuhei; Okada, Satoshi