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

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50

影响 p105/p50 的 Rel 同源域的有害 NFKB1 错义变异

Manfred Fliegauf, Matias Kinnunen, Sara Posadas-Cantera, Nadezhda Camacho-Ordonez, Hassan Abolhassani, Laia Alsina, Faranaz Atschekzei, Delfien J Bogaert, Siobhan O Burns, Joseph A Church, Gregor Dückers, Alexandra F Freeman, Lennart Hammarström, Leif Gunnar Hanitsch, Tessa Kerre, Robin Kobbe, Svetl

A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage

NFKB1 中的致病错义变异因有害蛋白质损伤而导致常见变异性免疫缺陷

Manfred Fliegauf, Renate Krüger, Sophie Steiner, Leif Gunnar Hanitsch, Sarah Büchel, Volker Wahn, Horst von Bernuth, Bodo Grimbacher

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study

通过靶向下一代测序对 291 名以抗体缺乏为主的患者进行分子诊断:单中心研究的经验

Jessica Rojas-Restrepo, Andrés Caballero-Oteyza, Katrin Huebscher, Hanna Haberstroh, Manfred Fliegauf, Baerbel Keller, Robin Kobbe, Klaus Warnatz, Stephan Ehl, Michele Proietti, Bodo Grimbacher

Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1

NFKB1 单等位基因变异导致的晚发型抗体缺乏症

Claudia Schröder, Georgios Sogkas, Manfred Fliegauf, Thilo Dörk, Di Liu, Leif G Hanitsch, Sophie Steiner, Carmen Scheibenbogen, Roland Jacobs, Bodo Grimbacher, Reinhold E Schmidt, Faranaz Atschekzei

Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency

评估IKAROS家族锌指蛋白1(IKZF1)变异在原发性免疫缺陷患者队列中的功能相关性

Zoya Eskandarian ,Manfred Fliegauf ,Alla Bulashevska ,Michele Proietti ,Rosie Hague ,Cristian Roberto Smulski ,Desirée Schubert ,Klaus Warnatz ,Bodo Grimbacher

ZNF341 controls STAT3 expression and thereby immunocompetence

ZNF341 控制 STAT3 表达,从而控制免疫能力

Stefanie Frey-Jakobs, Julia M Hartberger, Manfred Fliegauf, Claudia Bossen, Magdalena L Wehmeyer, Johanna C Neubauer, Alla Bulashevska, Michele Proietti, Philipp Fröbel, Christina Nöltner, Linlin Yang, Jessica Rojas-Restrepo, Niko Langer, Sandra Winzer, Karin R Engelhardt, Cristina Glocker, Dietmar

Mycobacteria exploit nitric oxide-induced transformation of macrophages into permissive giant cells

分枝杆菌利用一氧化氮诱导巨噬细胞转化为允许性巨细胞

Kourosh Gharun, Julia Senges, Maximilian Seidl, Anne Lösslein, Julia Kolter, Florens Lohrmann, Manfred Fliegauf, Magdeldin Elgizouli, Marco Alber, Martina Vavra, Kristina Schachtrup, Anna L Illert, Martine Gilleron, Carsten J Kirschning, Antigoni Triantafyllopoulou, Philipp Henneke

NFKB1 regulates human NK cell maturation and effector functions

NFKB1 调节人类 NK 细胞成熟和效应功能

Vassilios Lougaris, Ornella Patrizi, Manuela Baronio, Giovanna Tabellini, Giacomo Tampella, Eufemia Damiati, Natalie Frede, Jos W M van der Meer, Manfred Fliegauf, Bodo Grimbacher, Silvia Parolini, Alessandro Plebani

Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency

常见变异性免疫缺陷症中的 NF-κB1 亚基 p50 单倍体不足

Manfred Fliegauf, Vanessa L Bryant, Natalie Frede, Charlotte Slade, See-Tarn Woon, Klaus Lehnert, Sandra Winzer, Alla Bulashevska, Thomas Scerri, Euphemia Leung, Anthony Jordan, Baerbel Keller, Esther de Vries, Hongzhi Cao, Fang Yang, Alejandro A Schäffer, Klaus Warnatz, Peter Browett, Jo Douglass, 

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

DCLRE1C(ARTEMIS)突变导致的表型范围从非典型严重联合免疫缺陷到单纯的抗体缺陷

Timo Volk, Ulrich Pannicke, Ismail Reisli, Alla Bulashevska, Julia Ritter, Andrea Björkman, Alejandro A Schäffer, Manfred Fliegauf, Esra H Sayar, Ulrich Salzer, Paul Fisch, Dietmar Pfeifer, Michela Di Virgilio, Hongzhi Cao, Fang Yang, Karin Zimmermann, Sevgi Keles, Zafer Caliskaner, S Ükrü Güner, De