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

Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome.

人类抑癌素M缺乏症是遗传性严重骨髓衰竭综合征的根本原因

Garrigue Alexandrine, Kermasson Laëtitia, Susini Sandrine, Fert Ingrid, Mahony Christopher B, Sadek Hanem, Luce Sonia, Chouteau Myriam, Cavazzana Marina, Six Emmanuelle, Le Bousse-Kerdilès Marie-Caroline, Anginot Adrienne, Souraud Jean-Baptiste, Cormier-Daire Valérie, Willems Marjolaine, Sirvent Anne, Russello Jennifer, Callebaut Isabelle, André Isabelle, Bertrand Julien Y, Lagresle-Peyrou Chantal, Revy Patrick

Feeder-cell-free system for ex vivo production of natural killer cells from cord blood hematopoietic stem and progenitor cells

利用脐带血造血干细胞和祖细胞体外生产自然杀伤细胞的无饲养细胞系统

Marta Martin Corredera ,Juliette Paillet ,Pierre Gaudeaux ,Tifanie Blein ,Hanem Sadek ,Pauline Rault ,Asma Berriche ,Jeanne Roche-Naude ,Chantal Lagresle-Peyrou ,Tayebeh-Shabi Soheili ,Isabelle André # ,Ranjita Devi Moirangthem # ,Olivier Negre #

A heterozygous USB1 variant linked to immunodeficiency

一种与免疫缺陷相关的USB1杂合变异

Alice Valagussa,Nidia Moreno-Corona,Chantal Lagresle-Peyrou,Sara Mercurio,Margot Tragin,Nicolas Goudin,Mélanie Parisot,Monica Beltrame,Despina Moshous,Sven Kracker

FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice

FLT3L 调控人类和小鼠中部分重叠的造血谱系的发育

Mana Momenilandi,Romain Lévy,Steicy Sobrino,Jingwei Li,Chantal Lagresle-Peyrou,Hossein Esmaeilzadeh,Antoine Fayand,Corentin Le Floc'h,Antoine Guérin,Erika Della Mina,Debra Shearer,Ottavia M Delmonte,Ahmad Yatim,Kevin Mulder,Mathieu Mancini,Darawan Rinchai,Adeline Denis,Anna-Lena Neehus,Karla Balogh,Sarah Brendle,Hassan Rokni-Zadeh,Majid Changi-Ashtiani,Yoann Seeleuthner,Caroline Deswarte,Boris Bessot,Cassandre Cremades,Marie Materna,Axel Cederholm,Masato Ogishi,Quentin Philippot,Omer Beganovic,Mania Ackermann,Margareta Wuyts,Taushif Khan,Sébastien Fouéré,Florian Herms,Johan Chanal,Boaz Palterer,Julie Bruneau,Thierry J Molina,Stéphanie Leclerc-Mercier,Jean-Luc Prétet,Leila Youssefian,Hassan Vahidnezhad,Nima Parvaneh,Kristl G Claeys,Rik Schrijvers,Marine Luka,Philippe Pérot,Jacques Fourgeaud,Céline Nourrisson,Philippe Poirier,Emmanuelle Jouanguy,Stéphanie Boisson-Dupuis,Jacinta Bustamante,Luigi D Notarangelo,Neil Christensen,Nils Landegren,Laurent Abel,Nico Marr,Emmanuelle Six,David Langlais,Tim Waterboer,Florent Ginhoux,Cindy S Ma,Stuart G Tangye,Isabelle Meyts,Nico Lachmann,Jiafen Hu,Mohammad Shahrooei,Xavier Bossuyt,Jean-Laurent Casanova,Vivien Béziat

Clinical and functional spectrum of RAC2-related immunodeficiency.

RAC2相关免疫缺陷的临床和功能谱

Donkó Ágnes, Sharapova Svetlana O, Kabat Juraj, Ganesan Sundar, Hauck Fabian H, Bergerson Jenna R E, Marois Louis, Abbott Jordan, Moshous Despina, Williams Kelli W, Campbell Nicholas, Martin Paul L, Lagresle-Peyrou Chantal, Trojan Timothy, Kuzmenko Natalia B, Deordieva Ekaterina A, Raykina Elena V, Abers Michael S, Abolhassani Hassan, Barlogis Vincent, Milla Carlos, Hall Geoffrey, Mousallem Talal, Church Joseph, Kapoor Neena, Cros Guilhem, Chapdelaine Hugo, Franco-Jarava Clara, Lopez-Lerma Ingrid, Miano Maurizio, Leiding Jennifer W, Klein Christoph, Stasia Marie José, Fischer Alain, Hsiao Kuang-Chih, Martelius Timi, Seppänen Mikko R J, Barmettler Sara, Walter Jolan, Masmas Tania N, Mukhina Anna A, Falcone Emilia Liana, Kracker Sven, Shcherbina Anna, Holland Steven M, Leto Thomas L, Hsu Amy P

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation

白细胞性CBL杂合性缺失患者的自身炎症是由组成型ERK介导的单核细胞活化引起的。

Bohlen, Jonathan; Bagarić, Ivan; Vatovec, Taja; Ogishi, Masato; Ahmed, Syed F; Cederholm, Axel; Buetow, Lori; Sobrino, Steicy; Le Floc'h, Corentin; Arango-Franco, Carlos A; Seabra, Luis; Michelet, Marine; Barzaghi, Federica; Leardini, Davide; Saettini, Francesco; Vendemini, Francesca; Baccelli, Francesco; Catala, Albert; Gambineri, Eleonora; Veltroni, Marinella; Aguilar de la Red, Yurena; Rice, Gillian I; Consonni, Filippo; Berteloot, Laureline; Largeaud, Laetitia; Conti, Francesca; Roullion, Cécile; Masson, Cécile; Bessot, Boris; Seeleuthner, Yoann; Le Voyer, Tom; Rinchai, Darawan; Rosain, Jérémie; Neehus, Anna-Lena; Erazo-Borrás, Lucia; Li, Hailun; Janda, Zarah; Cho, En-Jui; Muratore, Edoardo; Soudée, Camille; Lainé, Candice; Delabesse, Eric; Goulvestre, Claire; Ma, Cindy S; Puel, Anne; Tangye, Stuart G; André, Isabelle; Bole-Feysot, Christine; Abel, Laurent; Erlacher, Miriam; Zhang, Shen-Ying; Béziat, Vivien; Lagresle-Peyrou, Chantal; Six, Emmanuelle; Pasquet, Marlène; Alsina, Laia; Aiuti, Alessandro; Zhang, Peng; Crow, Yanick J; Landegren, Nils; Masetti, Riccardo; Huang, Danny T; Casanova, Jean-Laurent; Bustamante, Jacinta

Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency

体细胞 RAP1B 功能获得性变异是孤立性血小板减少症和免疫缺陷的根本原因

Marta Benavides-Nieto ,Frédéric Adam ,Emmanuel Martin ,Charlotte Boussard ,Chantal Lagresle-Peyrou ,Isabelle Callebaut ,Alexandre Kauskot ,Christelle Repérant ,Miao Feng ,Jean-Claude Bordet ,Martin Castelle ,Guillaume Morelle ,Chantal Brouzes ,Mohammed Zarhrate ,Patricia Panikulam ,Nathalie Lambert ,Capucine Picard ,Damien Bodet ,Jérémie Rouger-Gaudichon ,Patrick Revy ,Jean-Pierre de Villartay ,Despina Moshous

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

RAC2功能获得性变异导致先天性免疫缺陷,进而激活NLRP3炎症小体。

Anne Doye #,Paul Chaintreuil #,Chantal Lagresle-Peyrou #,Ludovic Batistic,Valentine Marion,Patrick Munro,Celine Loubatier,Rayana Chirara,Nataël Sorel,Boris Bessot,Pauline Bronnec,Julie Contenti,Johan Courjon,Valerie Giordanengo,Arnaud Jacquel,Pascal Barbry,Marie Couralet,Nathalie Aladjidi,Alain Fischer,Marina Cavazzana,Coralie Mallebranche,Orane Visvikis,Sven Kracker,Despina Moshous,Els Verhoeyen,Laurent Boyer

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

IRF4基因的多态性突变导致人类常染色体显性联合免疫缺陷病

IRF4 International Consortium , Alicia Jia, Hye Sun Kuehn, Qing Min, Ulrich Pannicke, Nikolai Schleussner, Romane Thouenon, Zhijia Yu, María de Los Angeles Astbury, Catherine M Biggs, Miguel Galicchio, Jorge Alberto Garcia-Campos, Silvina Gismondi, Guadalupe Gonzalez Villarreal, Kyla J Hildebrand, Manfred Hönig, Jia Hou, Despina Moshous, Stefania Pittaluga, Xiaowen Qian, Jacob Rozmus, Ansgar S Schulz, Aidé Tamara Staines-Boone, Bijun Sun, Jinqiao Sun, Schauer Uwe, Edna Venegas-Montoya, Wenjie Wang, Xiaochuan Wang, Wenjing Ying, Xiaowen Zhai, Qinhua Zhou, Altuna Akalin, Isabelle André, Thomas F E Barth, Bernd Baumann, Anne Brüstle, Gaetan Burgio, Jacinta C Bustamante, Jean-Laurent Casanova, Marco G Casarotto, Marina Cavazzana, Loïc Chentout, Ian A Cockburn, Mariantonia Costanza, Chaoqun Cui, Oliver Daumke, Kate L Del Bel, Hermann Eibel, Xiaoqian Feng, Vedran Franke, J Christof M Gebhardt, Andrea Götz, Stephan Grunwald, Bénédicte Hoareau, Timothy R Hughes, Eva-Maria Jacobsen, Martin Janz, Arttu Jolma, Chantal Lagresle-Peyrou, Nannan Lai, Yaxuan Li, Susan Lin, Henry Y Lu, Saul O Lugo-Reyes, Xin Meng, Peter Möller, Nidia Moreno-Corona, Julie E Niemela, Gherman Novakovsky, Jareb J Perez-Caraballo, Capucine Picard, Lucie Poggi, Maria-Emilia Puig-Lombardi, Katrina L Randall, Anja Reisser, Yohann Schmitt, Sandali Seneviratne, Mehul Sharma, Jennifer Stoddard, Srinivasan Sundararaj, Harry Sutton, Linh Q Tran, Ying Wang, Wyeth W Wasserman, Zichao Wen, Wiebke Winkler, Ermeng Xiong, Ally W H Yang, Meiping Yu, Lumin Zhang, Hai Zhang, Qian Zhao, Xin Zhen, Anselm Enders, Sven Kracker, Ruben Martinez-Barricarte, Stephan Mathas, Sergio D Rosenzweig, Klaus Schwarz, Stuart E Turvey, Ji-Yang Wang