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

Type I IFN autoantibodies underlie chikungunya live-attenuated vaccine encephalitis

I型干扰素自身抗体是基孔肯雅减毒活疫苗脑炎的病因。

Gervais, Adrian; Bastard, Paul; Zhang, Qian; Jaffar-Bandjee, Marie-Christine; Bizien, Lucy; Dahmane, Lotfi; Moiton, Marie-Pierre; Jabot, Julien; Cally, Radj; Maillard, Alexis; Frumence, Etienne; de Lamballerie, Xavier; Yazdanpanah, Yazdan; Rosain, Jérémie; Cobat, Aurélie; Abel, Laurent; Puel, Anne; Ferdynus, Cyril; Mosnier, Émilie; Gérardin, Patrick; Zhang, Shen-Ying; Casanova, Jean-Laurent

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds

两个家族中威斯科特-奥尔德里奇综合征的病因是WAS启动子变异

Ober, Pauline; Lenoir, Christelle; Maillard, Arnaud; Vigue, Marie-Gabrielle; Willems, Marjolaine; Baron-Joly, Sandrine; Aubert, Carole E; Tinner, Eva Maria; Lambert, Nathalie; El Missaoui, Iben; Parisot, Frédéric; Fayand, Antoine; Seeleuthner, Yoann; Hanein, Sylvain; Le Voyer, Tom; Broly, Martin; Boursier, Guilaine; Casanova, Jean-Laurent; Zhang, Peng; Schmid, Jana Pachlopnik; Latour, Sylvain; Rosain, Jérémie

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

Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing

通过全外显子组和全基因组测序扩展先天性中性粒细胞减少症的表型和遗传图谱

Marti, Séverine; Pellet, Philippe; Beaupain, Blandine; Durix, Léa; Buratti, Julien; Réguerre, Yves; Aladjidi, Nathalie; Azarnoush, Saba; Clauin, Severine; Chahla, Wahid Abou; Blaison, Gilles; Bertand, Jeremy; Bodet, Damien; Brethon, Benoit; Chane-Teng, Jessica; Delafoy, Manon; Dupraz, Chrystelle; Gandemer, Virginie; Denizeau, Philippe; Goldenberg, Alice; Hirsch, Pierre; l'Haridon, Anaïs; Marie-Cardine, Aude; Vera, Gabriella; Nelken, Brigitte; Nizery, Laure; Nolla, Marie; Pasquet, Marlène; Rosain, Jérémie; Terriou, Louis; Plo, Isabelle; Donadieu, Jean; Bellanné-Chantelot, Christine

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

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

PLCG1 的杂合变异会影响听力、视力、心脏和免疫功能

Ma Mengqi, Zheng Yiming, Deng Mingxi, Lu Shenzhao, Pan Xueyang, Luo Xi, Etoundi Michelle, Li-Kroeger David, Worley Kim C, Burrage Lindsay C, Blieden Lauren S, Allworth Aimee, Chen Wei-Liang, Merla Giuseppe, Mandriani Barbara, Otten Catherine E, Blanc Pierre, Rosenfeld Jill A, Dutta Debdeep, Yamamoto Shinya, Wangler Michael F, Glass Ian A, Chen Jingheng, Blue Elizabeth, Prontera Paolo, Rosain Jeremie, Marlin Sandrine, Lalani Seema R, Bellen Hugo J

A New Variant in CTLA4 Highlights the Heterogeneous Phenotype of CTLA4 Haploinsufficiency

CTLA4基因新变异凸显CTLA4单倍体不足的异质性表型

Sormani, Jonathan; Belot, Alexandre; Nove-Josserand, Raphaele; Picard, Capucine; Rosain, Jérémie; Villard, Marine; Viel, Sebastien; Ouachee-Chardin, Marie; Mercier, Emma; Giannoli, Catherine; Moskovtchenko, Philippe; Rabeyrin, Maud; Balme, Brigitte; Durieu, Isabelle; Mathieu, Anne-Laure; Reynaud, Quitterie