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

Human iPSC derived alveolar macrophages reveal macrophage subtype specific functions of itaconate in M. tuberculosis host defense.

人类 iPSC 衍生的肺泡巨噬细胞揭示了衣康酸在结核分枝杆菌宿主防御中的巨噬细胞亚型特异性功能

Krebs Adam, Lazarov Tomi, Reynolds Anthony, Dill-McFarland Kimberly A, Xie Abigail, Bean James, Du Muxue, Levy Olivier, Buglino John, Zhong Aaron, Neehus Anna-Lena, Boisson-Dupuis Stephanie, Casanova Jean-Laurent, Kroon Elouise E, Möller Marlo, Hawn Thomas R, Zhou Ting, Finley Lydia W S, Juste Marc Antoine Jean, Fitzgerald Dan, Geissmann Frederic, Glickman Michael S

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

Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants

鉴定与致病性功能获得性和功能丧失性变异相关的基因水平和蛋白质水平的鉴别特征

Sevim Bayrak, Cigdem; Stein, David; Jain, Aayushee; Chaudhary, Kumardeep; Nadkarni, Girish N; Van Vleck, Tielman T; Puel, Anne; Boisson-Dupuis, Stephanie; Okada, Satoshi; Stenson, Peter D; Cooper, David N; Schlessinger, Avner; Itan, Yuval

A New Patient with Inherited TYK2 Deficiency

一名患有遗传性TYK2缺陷的新患者

Sarrafzadeh, Shokouh Azam; Mahloojirad, Maryam; Casanova, Jean-Laurent; Badalzadeh, Mohsen; Bustamante, Jacinta; Boisson-Dupuis, Stephanie; Pourpak, Zahra; Nourizadeh, Maryam; Moin, Mostafa

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

人类 STAT1 功能获得性杂合突变:慢性黏膜皮肤念珠菌病和 I 型干扰素病

Okada, Satoshi; Asano, Takaki; Moriya, Kunihiko; Boisson-Dupuis, Stephanie; Kobayashi, Masao; Casanova, Jean-Laurent; Puel, Anne

The monogenic basis of human tuberculosis

人类结核病的单基因基础

Boisson-Dupuis, Stephanie

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient

一名接种过卡介苗的南非患者出现常染色体显性 IFN-γR1 缺乏症,表现为非典型分枝杆菌病和结核病。

Glanzmann, Brigitte; Möller, Marlo; Moncada-Velez, Marcela; Peter, Jonny; Urban, Michael; van Helden, Paul D; Hoal, Eileen G; de Villiers, Nikola; Glashoff, Richard H; Nortje, Rina; Bustamante, Jacinta; Abel, Laurent; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie; Esser, Monika; Kinnear, Craig J

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1

一名携带信号转导和转录激活因子1功能获得性突变的患者出现播散性结核病和慢性黏膜皮肤念珠菌病

Pedraza-Sánchez, Sigifredo; Lezana-Fernández, Jose Luis; Gonzalez, Yolanda; Martínez-Robles, Luis; Ventura-Ayala, María Laura; Sadowinski-Pine, Stanislaw; Nava-Frías, Margarita; Moreno-Espinosa, Sarbelio; Casanova, Jean-Laurent; Puel, Anne; Boisson-Dupuis, Stephanie; Torres, Martha

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

两名互不相关的患者均感染了猿分枝杆菌,且患有不同类型的遗传性IFN-γR2缺陷。

Martínez-Barricarte, Rubén; Megged, Orli; Stepensky, Polina; Casimir, Pierre; Moncada-Velez, Marcela; Averbuch, Diana; Assous, Marc Victor; Abuzaitoun, Omar; Kong, Xiao-Fei; Pedergnana, Vincent; Deswarte, Caroline; Migaud, Mélanie; Rose-John, Stefan; Itan, Yuval; Boisson, Bertrand; Belkadi, Aziz; Conti, Francesca; Abel, Laurent; Vogt, Guillaume; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent; Bustamante, Jacinta

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

HGCS:一种根据生物学距离对致病基因变异进行优先级排序的在线工具

Itan, Yuval; Mazel, Mark; Mazel, Benjamin; Abhyankar, Avinash; Nitschke, Patrick; Quintana-Murci, Lluis; Boisson-Dupuis, Stephanie; Boisson, Bertrand; Abel, Laurent; Zhang, Shen-Ying; Casanova, Jean-Laurent