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

Patient-specific alterations in blood plasma cfRNA profiles enable accurate classification of cancer patients and controls

患者血浆cfRNA谱的特异性改变能够对癌症患者和健康对照组进行准确分类。

Morlion, Annelien; Decruyenaere, Philippe; Schoofs, Kathleen; Anckaert, Jasper; Johns Ramirez, Nickolas; Nuytens, Justine; Vanden Eynde, Eveline; Verniers, Kimberly; Everaert, Celine; Brusselle, Guy; Callens, Steven; Haerynck, Filomeen; Hemelsoet, Dimitri; Hoste, Eric; Lambert, Jo; Lumen, Nicolaas; Offner, Fritz; Paemeleire, Koen; Smith, Vanessa; Van den Eynde, Lies; Van Dorpe, Jo; Vanhaecke, Amber; Van Vlierberghe, Hans; Mariman, An; Thas, Olivier; Vandesompele, Jo; Mestdagh, Pieter

Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

ATRIP缺陷患者的复制压力、小头畸形原始侏儒症和免疫功能受损

Evi Duthoo # ,Elien Beyls # ,Lynn Backers # ,Thorkell Gudjónsson ,Peiquan Huang ,Leander Jonckheere ,Sebastian Riemann ,Bram Parton ,Likun Du ,Veronique Debacker ,Marieke De Bruyne ,Levi Hoste ,Ans Baeyens ,Anne Vral ,Eva Van Braeckel ,Jens Staal ,Geert Mortier ,Tessa Kerre ,Qiang Pan-Hammarström ,Claus S Sørensen ,Filomeen Haerynck # ,Kathleen B M Claes # ,Simon J Tavernier #

Harmonisation of switched memory B cell analysis for improved CVID diagnosis and classification

协调转换记忆B细胞分析以改进CVID的诊断和分类

Buysse, Malicorne; Neirinck, Jana; De Vriendt, Ciel; Haerynck, Filomeen; Pérez-Andrés, Martín; Orfao, Alberto; Hofmans, Mattias; Bonroy, Carolien

Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond

探究先天性免疫缺陷中的染色体放射敏感性:来自DNA修复障碍及其他领域的启示

Beyls, Elien; Duthoo, Evi; Backers, Lynn; Claes, Karlien; De Bruyne, Marieke; Pottie, Lore; Bordon, Victoria; Bonroy, Carolien; Tavernier, Simon J; Claes, Kathleen B M; Vral, Anne; Baeyens, Ans; Haerynck, Filomeen

Functional validation of a novel STAT3 'variant of unknown significance' identifies a new case of STAT3 GOF syndrome and reveals broad immune cell defects

对新型 STAT3“意义不明的变体”的功能验证确定了一例新的 STAT3 GOF 综合征病例,并揭示了广泛的免疫细胞缺陷

Joseph Mackie, Daniel Suan, Peter McNaughton, Filomeen Haerynck, Michael O'Sullivan, Antoine Guerin, Cindy S Ma, Stuart G Tangye

Multidimensional 1-Year Outcomes After Intensive Care Admission for Multisystem Inflammatory Syndrome in Children

儿童多系统炎症综合征重症监护入院后1年多维度预后

Seijbel, Thomas C; Hoste, Levi; Buysse, Corinne M P; Dulfer, Karolijn; Haerynck, Filomeen; de Hoog, Matthijs; Ketharanathan, Naomi

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

儿童多系统炎症综合征(MIS-C)患者的杂合BTNL8变异

Evangelos Bellos # ,Dilys Santillo # ,Pierre Vantourout ,Heather R Jackson ,Amedine Duret ,Henry Hearn ,Yoann Seeleuthner ,Estelle Talouarn ,Stephanie Hodeib ,Harsita Patel ,Oliver Powell ,Sophya Yeoh ,Sobia Mustafa ,Dominic Habgood-Coote ,Samuel Nichols ,Leire Estramiana Elorrieta ,Giselle D'Souza ,Victoria J Wright ,Diego Estrada-Rivadeneyra ,Adriana H Tremoulet ,Kirsten B Dummer ,Stejara A Netea ,Antonio Condino-Neto ,Yu Lung Lau ,Esmeralda Núñez Cuadros ,Julie Toubiana ,Marisol Holanda Pena ,Frédéric Rieux-Laucat ,Charles-Edouard Luyt ,Filomeen Haerynck ,Jean Louis Mège ,Samya Chakravorty ,Elie Haddad ,Marie-Paule Morin ,Özge Metin Akcan ,Sevgi Keles ,Melike Emiroglu ,Gulsum Alkan ,Sadiye Kübra Tüter Öz ,Sefika Elmas Bozdemir ,Guillaume Morelle ,Alla Volokha ,Yasemin Kendir-Demirkol ,Betul Sözeri ,Taner Coskuner ,Aysun Yahsi ,Belgin Gulhan ,Saliha Kanik-Yuksek ,Gulsum Iclal Bayhan ,Aslinur Ozkaya-Parlakay ,Osman Yesilbas ,Nevin Hatipoglu ,Tayfun Ozcelik ,Alexandre Belot ,Emilie Chopin ,Vincent Barlogis ,Esra Sevketoglu ,Emin Menentoglu ,Zeynep Gokce Gayretli Aydin ,Marketa Bloomfield ,Suzan A AlKhater ,Cyril Cyrus ,Yuriy Stepanovskiy ,Anastasiia Bondarenko ,Fatma Nur Öz ,Meltem Polat ,Jiří Fremuth ,Jan Lebl ,Amyrath Geraldo ,Emmanuelle Jouanguy ,Paul Wellman ,Mark Peters ,Rebeca Pérez de Diego ,Lindsey Ann Edwards ,Christopher Chiu ,Mahdad Noursadeghi ,Alexandre Bolze ,Chisato Shimizu ,Myrsini Kaforou ,Melissa Shea Hamilton ,Jethro A Herberg ,Erica G Schmitt ,Agusti Rodriguez-Palmero ,Aurora Pujol ,Jihoon Kim ,Aurélie Cobat ,Laurent Abel ,Shen-Ying Zhang ,Jean-Laurent Casanova ,Taco W Kuijpers ,Jane C Burns ,Michael Levin ,Adrian C Hayday ,Vanessa Sancho-Shimizu

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

A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome

AICDA 中的一种新型杂合变异会损害人类 B 细胞中的免疫球蛋白类别转换和体细胞超突变,并与常染色体显性 HIGM2 综合征有关

Erika Della Mina, Katherine J L Jackson, Alexander J I Crawford, Megan L Faulks, Karrnan Pathmanandavel, Nicolino Acquarola, Michael O'Sullivan, Tessa Kerre, Leslie Naesens, Karlien Claes, Christopher C Goodnow, Filomeen Haerynck, Sven Kracker, Isabelle Meyts, Lloyd J D'Orsogna #, Cindy S Ma #, Stua