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

Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling Pathway

对患有自身免疫性肝炎的儿童进行全外显子组测序，发现参与 mTORC1 信号通路的基因存在突变

期刊:Gastro Hep Advances
影响因子:
doi:10.1016/j.gastha.2025.100808
Gaigne, Léa-Philippine; Besnard, Caroline; Debeaupuis, Orianne; Degtiar, Artem; Nhat, Duong Ho; Stolzenberg, Marie-Claude; Camara, Fatou; Pellé, Olivier; Schvartz, Adrien; Perin, Mélodie; Almes, Marion; Darmellah-Remil, Amaria; Gonzales, Emmanuel; Gardin, Antoine; Habes, Dalila; Destombe, Sylvie; De Martin, Eleonora; Duclos-Vallée, Jean-Charles; Arkwright, Peter D; Rieux-Laucat, Frédéric; Jacquemin, Emmanuel; Magerus, Aude
mTOR
信号转导
ORC1
自身免疫性肝炎
肝炎
免疫/内分泌
发表日期：2026
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In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation

计算机模拟指导识别与免疫失调相关的新型JAK1变体

期刊:EMBO Molecular Medicine
影响因子:9
doi:10.1038/s44321-025-00317-0
Marie Jeanpierre # ，Orianne Debeaupuis # ，Camille Brunaud ，Judith Yancoski ，Quentin Riller ，Jerome Hadjadj ，Marie-Claude Stolzenberg ，Giselle Villarreal ，Marie Martha Katsicas ，Mariana Villa ，Joao Farela Neves ，Jean-Louis Stephan ，Cédric Léonard ，Estibaliz Lazaro ，Jonathan Ciron ，Charlotte Boussard ，Fabienne Mazerolles ，Aude Magerus ，Pelle Olivier ，Cecile Masson ，Yohann Schmitt ，Benedicte Hoareau ，Angélique Vinit ，Bénédicte Neven ，Pierre Quartier ，Herve Isambert ，Matías Oleastro ，Silvia Danielian ，Marianna Parlato # ，Frederic Rieux-Laucat #
免疫/内分泌
NK细胞
JAK1
AK1
发表日期：2025
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Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders

自身免疫性淋巴增生性免疫缺陷病（ALPIDs）：重新定义自身免疫性淋巴增生症（ALPS）和其他淋巴增生性免疫疾病的拟议方法

期刊:Journal of Allergy and Clinical Immunology
影响因子:11.2
doi:10.1016/j.jaci.2023.11.004
Magerus, Aude; Rensing-Ehl, Anne; Rao, V Koneti; Teachey, David T; Rieux-Laucat, Frederic; Ehl, Stephan
免疫/内分泌
发表日期：2024
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Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome

研究CASPASE-10突变在自身免疫性淋巴增生综合征发生发展中的潜在作用

期刊:Cell Death & Disease
影响因子:8.1
doi:10.1038/s41419-024-06679-6
Filippo Consonni ，Solange Moreno # ，Blanca Vinuales Colell # ，Marie-Claude Stolzenberg ，Alicia Fernandes ，Mélanie Parisot ，Cécile Masson ，Nathalie Neveux ，Jérémie Rosain ，Sarah Bamberger ，Marie-Gabrielle Vigue ，Marion Malphettes ，Pierre Quartier ，Capucine Picard ，Frédéric Rieux-Laucat ，Aude Magerus
免疫/内分泌
发表日期：2024
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Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients

移植严重联合免疫缺陷症 (SCID) 患者的迟发型肠道病毒感染与肝炎 (EVAH)

期刊:Journal of Allergy and Clinical Immunology
影响因子:11.4
doi:10.1016/j.jaci.2022.12.822
Quentin Riller, Jacques Fourgeaud, Julie Bruneau, Suk See De Ravin, Grace Smith, Mathieu Fusaro, Samy Meriem, Aude Magerus, Marine Luka, Ghaith Abdessalem, Ludovic Lhermitte, Anne Jamet, Emmanuelle Six, Alessandra Magnani, Martin Castelle, Romain Lévy, Mathilde M Lecuit, Benjamin Fournier, Sarah Win
免疫
肝炎
发表日期：2023
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The genetic landscape of the FAS pathway deficiencies

FAS通路缺陷的遗传图谱

期刊:Biomedical Journal
影响因子:4.4
doi:10.1016/j.bj.2021.06.005
Magerus, Aude; Bercher-Brayer, Clara; Rieux-Laucat, Frédéric
信号转导
FAS
发表日期：2021
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Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation

自身免疫性淋巴增生综合征（FAS）患者具有异常的调节性T细胞（Treg）表型，但对T细胞增殖表现出正常的天然Treg抑制功能。

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2018.00718
Mazerolles, Fabienne; Stolzenberg, Marie-Claude; Pelle, Olivier; Picard, Capucine; Neven, Benedicte; Fischer, Alain; Magerus-Chatinet, Aude; Rieux-Laucat, Frederic
T细胞
Treg
T细胞
FAS
细胞生物学
免疫/内分泌
发表日期：2018
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Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

28例自身免疫性淋巴增生综合征患者在接受和停用雷帕霉素治疗期间疾病活动度和生物标志物的变化

期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2016.153411
Klemann, Christian; Esquivel, Myrian; Magerus-Chatinet, Aude; Lorenz, Myriam R; Fuchs, Ilka; Neveux, Nathalie; Castelle, Martin; Rohr, Jan; da Cunha, Claudia Bettoni; Ebinger, Martin; Kobbe, Robin; Kremens, Bernhard; Kollert, Florian; Gambineri, Eleonora; Lehmberg, Kai; Seidel, Markus G; Siepermann, Kathrin; Voelker, Thomas; Schuster, Volker; Goldacker, Sigune; Schwarz, Klaus; Speckmann, Carsten; Picard, Capucine; Fischer, Alain; Rieux-Laucat, Frederic; Ehl, Stephan; Rensing-Ehl, Anne; Neven, Benedicte
免疫/内分泌
发表日期：2017
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Lymphadenopathy driven by TCR-V(γ)8V(δ)1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome

FAS相关自身免疫性淋巴增生综合征中由TCR-V(γ)8V(δ)1 T细胞扩增驱动的淋巴结肿大

期刊:Blood Advances
影响因子:7.1
doi:10.1182/bloodadvances.2017006411
Vavassori, Stefano; Galson, Jacob D; Trück, Johannes; van den Berg, Anke; Tamminga, Rienk Y J; Magerus-Chatinet, Aude; Pellé, Olivier; Camenisch Gross, Ulrike; Marques Maggio, Ewerton; Prader, Seraina; Opitz, Lennart; Nüesch, Ursina; Mauracher, Andrea; Volkmer, Benjamin; Speer, Oliver; Suda, Luzia; Röthlisberger, Benno; Zimmermann, Dieter Robert; Müller, Rouven; Diepstra, Arjan; Visser, Lydia; Haralambieva, Eugenia; Neven, Bénédicte; Rieux-Laucat, Frédéric; Pachlopnik Schmid, Jana
T细胞
T细胞
FAS
细胞生物学
免疫/内分泌
发表日期：2017
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Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation

由纯合子FAS配体（FASLG）无义突变引起的自身免疫性淋巴增生综合征

期刊:Journal of Allergy and Clinical Immunology
影响因子:11.2
doi:10.1016/j.jaci.2012.06.011
Magerus-Chatinet, Aude; Stolzenberg, Marie-Claude; Lanzarotti, Nina; Neven, Bénédicte; Daussy, Cécile; Picard, Capucine; Neveux, Nathalie; Desai, Mukesh; Rao, Meghana; Ghosh, Kanjaksha; Madkaikar, Manisha; Fischer, Alain; Rieux-Laucat, Frédéric
FAS
FASLG
免疫/内分泌
发表日期：2013
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