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

Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function.

白细胞中人类 E3 泛素连接酶 CBL 的体细胞缺陷会损害 B 细胞的发育和功能,但不会影响 T 细胞的发育和功能。

Vatovec Taja, Neehus Anna-Lena, Jackson Katherine J L, Avery Danielle T, Bagarić Ivan, Erazo Lucia, Arango-Franco Carlos A, Ogishi Masato, Ahmed Syed F, Cederholm Axel, Russell Amanda J, Della Mina Erika, Al-Rifai Dena, Bull Rowena, Buetow Lori, Sobrino Steicy, Zhang Allison, Wahlster Lara, Michelet Marine, Parvaneh Nima, Peel Jessica, Barzaghi Federica, Leardini Davide, Philippot Quentin, Saettini Francesco, Dutrieux Jacques, de Muylder Benedicte, Vendemini Francesca, Baccelli Francesco, Catala Albert, Gambineri Eleonora, Veltroni Marinella, Pandiarajan Vignesh, Aguilar Yurena, Haerynck Filomeen, Elliott Michael, Turville Stuart, Brillot Fabienne, Khan Taushif, Consonni Filippo, Berteloot Laureline, Sewell William A, Rao Geetha, Largeaud Laetitia, Conti Francesca, Roullion Cecile, Masson Cécile, Pegoraro Francesco, Ye Tianyi, Joubran Samantha, Villalpando Emily, Bessot Boris, Seeleuthner Yoann, Le Voyer Tom, Rosain Jérémie, Li Hailun, Janda Zarah, Muratore Edoardo, Soudée Camille, Delabesse Eric, Goulvestre Claire, Shahrooei Mohammad, Puel Anne, André Isabelle, Bole-Feysot Christine, Abel Laurent, Erlacher Miriam, Béziat Vivien, Lagresle-Peyrou Chantal, Cheynier Remi, Six Emmanuelle, Marr Nico, Pasquet Marlène, Alsina Laia, Goodnow Christopher C, Landegren Nils, Aiuti Alessandro, Zhang Peng, Masetti Riccardo, Huang Danny T, Ma Cindy S, Casanova Jean-Laurent, Sankaran Vijay G, Bustamante Jacinta, Tangye Stuart G, Bohlen Jonathan

Immune activation and response dynamics of human iPSC-derived macrophages in tuberculosis infection models.

结核病感染模型中人iPSC衍生巨噬细胞的免疫激活和反应动态。

Paasch Daniela, Schevel Hannah, Riehle Andrea, Costa Bibiana, Toufaili Hassan, Gehnen Tabea, Dahlmann Julia, Pavlou Andreas, Neehus Anna-Lena, Nguyen Ariane Hai Ha, Schiering Erika, Buchegger Theresa, Bustamante Jacinta, Hansen Gesine, Kalinke Ulrich, Gulbins Erich, Grassmé Heike, Lachmann Nico

Homozygosity for rare or common hypomorphic IL23R variants confers a predisposition to tuberculosis in humans

人类携带罕见或常见的低活性IL23R变异纯合子会增加患结核病的易感性。

Calderón, Diana Olguín; Kilpatrick, Laura E; Conil, Clément; Philippot, Quentin; Ogishi, Masato; Vellutini, Joseph; Han, Ji Eun; Keating, Narelle; Li, Hailun; Rao, Geetha; Bohlen, Jonathan; Lay, Charles S; Platt, Simon; Kerner, Gaspard; Feredj, Elsa; Peel, Jessica N; Momenilandi, Mana; Seeleuthner, Yoann; Lainé, Candice; Soudée, Camille; Leloup, Claire; Debuisson, Cecile; Lanternier, Fanny; Bitoun, Samuel; Pavy, Stephan; Mariette, Xavier; Rafik, Aniss; Skhoun, Hanaa; El Ouazzani, Hanane; Abderahmani-Ghorfi, Ismail; El-Bagdadi, Jamila; Baena, Andrés; Tejada-Giraldo, Manuela; Barrera, Luis Fernando; Arias, Andrés Augusto; Fabio, Giovanna; Carrabba, Maria; Emiroglu, Melike; Bezrodnik, Liliana; El Zein, Loubna; Hammoud, Hassan; Gregersen, Peter K; Terrier, Benjamin; Lopez, Rafael Leon; Touzet, Marion; Pestre, Vincent; Pasquet, Marlène; Rogge, Lars; Pasquet, Marlène; Fayon, Michael; Galode, François; Jeziorski, Eric; Duffy, Daragh; Quintana-Murci, Lluis; Patin, Etienne; Cunningham-Rundles, Charlotte; Meyts, Isabelle; Zhang, Shen-Ying; Zhang, Qian; Jouanguy, Emmanuelle; Boisson, Bertrand; Rosain, Jérémie; Béziat, Vivien; Shahrooei, Mohammad; Mahdaviani, Seyed Alireza; Rezaei, Nima; Parvaneh, Nima; Chavoshzadeh, Zahra; Yazdanpanah, Niloufar; Aladjidi, Nathalie; Noguera-Julian, Antoni; Esteve-Solé, Ana; Manrique, Laia Alsina; Mansouri, Davood; Keles, Sevgi; Ortakoylu, Mediha Gonenc; Aygun, Deniz; Yucel, Esra; Kiykim, Ayca; Camcioglu, Yildiz; Ma, Cindy S; Tangye, Stuart G; Zhang, Peng; Abel, Laurent; Craggs, Peter D; Casanova, Jean-Laurent; Cobat, Aurélie; Puel, Anne; Bustamante, Jacinta; Hill, Stephen J; Boisson-Dupuis, Stéphanie

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease

分枝杆菌病患者的 X 连锁 MCTS1 缺陷的完全型和部分型

Zhou, Qinhua; Bagarić, Ivan; Komma, Fabian; Prakash, Chandhana; Abolhassani, Hassan; Chavoshzadeh, Zahra; Tsao, Lulu; Vatovec, Taja; Soudée, Camille; Rosain, Jérémie; Minter, Daniel J; Lu, Conny; Al-Sukaiti, Nashat; Wu, Bingbing; Sun, Jinqiao; Zhang, Qian; Casanova, Jean-Laurent; Pan-Hammarström, Qiang; Chan, Alice Y; Al-Farsi, Tariq; Wang, Xiaochuan; Bustamante, Jacinta; Bohlen, Jonathan

Cerebral amebiasis due to Acanthamoeba sp. in a patient with complete gp91 (phox) deficiency

一名患有完全性gp91(phox)缺陷的患者罹患由棘阿米巴属(Acanthamoeba sp.)引起的脑阿米巴病。

Roelens, Marie; Neehus, Anna-Lena; Rosain, Jérémie; Collobert, Gislène; Boddaert, Nathalie; Carausu, Liana; Bustamante, Jacinta

IRF4 haploinsufficiency in a multiplex family with Whipple's disease.

患有惠普尔病的多重家族中 IRF4 单倍体不足。

Ünal Sinem, Dublanc Stéphanie, Li Hailun, Vernhes Jean-Philippe, Meynier Vincent, Soudée Camille, Béziat Vivien, Vogt Guillaume, Puéchal Xavier, Casanova Jean-Laurent, Bustamante Jacinta, Rosain Jérémie

Monoallelic expression can govern penetrance of inborn errors of immunity

单等位基因表达可以控制先天性免疫缺陷的穿透率

Stewart, O'Jay; Gruber, Conor; Randolph, Haley E; Patel, Roosheel; Ramba, Meredith; Calzoni, Enrica; Huang, Lei Haley; Levy, Jay; Buta, Sofija; Lee, Angelica; Sazeides, Christos; Prue, Zoe; Hoytema van Konijnenburg, David P; Chinn, Ivan K; Pedroza, Luis A; Lupski, James R; Schmitt, Erica G; Cooper, Megan A; Puel, Anne; Peng, Xiao; Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; Okada, Satoshi; Martin-Fernandez, Marta; Orange, Jordan S; Casanova, Jean-Laurent; Milner, Joshua D; Bogunovic, Dusan

Locking CBL TKBD in its native conformation presents a novel therapeutic opportunity in mutant CBL-dependent leukemia.

将 CBL TKBD 锁定在其天然构象中,为突变型 CBL 依赖性白血病提供了一种新的治疗机会

Ahmed Syed Feroj, Anand Jayanthi, Zhang Wei, Buetow Lori, Rishi Loveena, Mitchell Louise, Bohlen Jonathan, Lilla Sergio, Sibbet Gary J, Nixon Colin, Patel Amrita, Majorek Karolina A, Zanivan Sara, Bustamante Jacinta C, Sidhu Sachdev S, Blyth Karen, Huang Danny T

The monogenic landscape of human infectious diseases

人类传染病的单基因图谱

Boisson-Dupuis, Stéphanie; Bastard, Paul; Béziat, Vivien; Bustamante, Jacinta; Cobat, Aurélie; Jouanguy, Emmanuelle; Puel, Anne; Rosain, Jérémie; Zhang, Qian; Zhang, Shen-Ying; Boisson, Bertrand

Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4(+) IL-9-expressing cells

先天性免疫缺陷揭示了人类CD4(+)IL-9表达细胞生成和维持的分子需求

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; Abolhassani, Hassan; Abraham, Roshini S; Seppänen, Mikko R J; Béziat, Vivien; Bustamante, Jacinta; Forbes Satter, Lisa R; Leiding, Jennifer W; Meyts, Isabelle; Jouanguy, Emmanuelle; Boisson-Dupuis, Stéphanie; Uzel, Gulbu; Puel, Anne; Casanova, Jean-Laurent; Tangye, Stuart G; Ma, Cindy S