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

The Microbiome Modifies Manifestations of Hemophagocytic Lymphohistiocytosis in Perforin-Deficient Mice

微生物组改变穿孔素缺陷小鼠噬血细胞性淋巴组织细胞增生症的表现

Jasmin Mann ,Solveig Runge ,Christoph Schell ,Katja Gräwe ,Gudrun Thoulass ,Jessica Lao ,Sandra Ammann ,Sarah Grün ,Christoph König ,Sarah A Berger ,Benedikt Hild ,Peter Aichele ,Stephan P Rosshart ,Stephan Ehl

Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect

SNARE蛋白SYNTAXIN-11缺陷的患者和小鼠均存在继发性B细胞缺陷。

Tamara Kögl ,Hsin-Fang Chang ,Julian Staniek ,Samuel C C Chiang ,Gudrun Thoulass ,Jessica Lao ,Kristoffer Weißert ,Viviane Dettmer-Monaco ,Kerstin Geiger ,Paul T Manna ,Vivien Beziat ,Mana Momenilandi ,Szu-Min Tu ,Selina J Keppler ,Varsha Pattu ,Philipp Wolf ,Laurence Kupferschmid ,Stefan Tholen ,Laura E Covill ,Karolina Ebert ,Tobias Straub ,Miriam Groß ,Ruth Gather ,Helena Engel ,Ulrich Salzer ,Christoph Schell ,Sarah Maier ,Kai Lehmberg ,Tatjana I Cornu ,Hanspeter Pircher ,Mohammad Shahrooei ,Nima Parvaneh ,Roland Elling ,Marta Rizzi ,Yenan T Bryceson ,Stephan Ehl ,Peter Aichele # ,Sandra Ammann #

Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia

共济失调毛细血管扩张症中NK细胞和T细胞的免疫谱分析和功能分析

Lea Graafen ,Annekathrin Heinze ,Nawid Albinger ,Emilia Salzmann-Manrique ,Franziska Ganß ,Sabine Hünecke ,Claudia Cappel ,Sandra Wölke ,Helena Donath ,Jordis Trischler ,Till-Martin Theilen ,Christine Heller ,Christoph Königs ,Stephan Ehl ,Peter Bader ,Thomas Klingebiel ,Jan-Henning Klusmann ,Stefan Zielen ,Ralf Schubert ,Evelyn Ullrich

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency

与单等位基因 LIG4 突变相关的自身免疫和免疫缺陷,通过单倍体不足

Annaïse J Jauch, Olivier Bignucolo, Sayuri Seki, Marie Ghraichy, Ottavia M Delmonte, Valentin von Niederhäusern, Rebecca Higgins, Adhideb Ghosh, Masako Nishizawa, Mariko Tanaka, Adrian Baldrich, Julius Köppen, Julia R Hirsiger, Robin Hupfer, Stephan Ehl, Anne Rensing-Ehl, Helmut Hopfer, Spasenija Sa

Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9

DPP9 新发突变导致的噬血细胞性淋巴组织细胞增生症样炎症过度

Christine Wolf, Hannah Fischer, Jörn-Sven Kühl, Sarah Koss, Rami Abou Jamra, Sven Starke, Jurek Schultz, Stephan Ehl, Katrin Neumann, Catharina Schuetz, Robert Huber, Veit Hornung, Min Ae Lee-Kirsch

Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)

免疫缺陷伴淋巴瘤易感性,复杂基因型影响能量代谢(FBP1、ACAD9)和囊泡运输(RAB27A)

Nina Brauer,Yuto Maruta,Miriam Lisci,Katharina Strege,Ilske Oschlies,Hikari Nakamura,Svea Böhm,Kai Lehmberg,Leon Brandhoff,Stephan Ehl,Nima Parvaneh,Wolfram Klapper,Mitsunori Fukuda,Gillian M Griffiths,Hans Christian Hennies,Tim Niehues,Sandra Ammann

Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

遗传性TYK2缺陷患者的结核分枝杆菌感染是由IL-23依赖性IFN-γ诱导受损引起的。

Masato Ogishi # ,Andrés Augusto Arias # ,Rui Yang # ,Ji Eun Han # ,Peng Zhang ,Darawan Rinchai ,Joshua Halpern ,Jeanette Mulwa ,Narelle Keating ,Maya Chrabieh ,Candice Lainé ,Yoann Seeleuthner ,Noé Ramírez-Alejo ,Nioosha Nekooie-Marnany ,Andrea Guennoun ,Ingrid Muller-Fleckenstein ,Bernhard Fleckenstein ,Sara S Kilic ,Yoshiyuki Minegishi ,Stephan Ehl ,Petra Kaiser-Labusch ,Yasemin Kendir-Demirkol ,Flore Rozenberg ,Abderrahmane Errami ,Shen-Ying Zhang ,Qian Zhang ,Jonathan Bohlen ,Quentin Philippot ,Anne Puel ,Emmanuelle Jouanguy ,Zahra Pourmoghaddas # ,Shahrzad Bakhtiar # ,Andre M Willasch # ,Gerd Horneff # ,Genevieve Llanora # ,Lynette P Shek # ,Louis Y A Chai # ,Sen Hee Tay # ,Hamid H Rahimi # ,Seyed Alireza Mahdaviani # ,Serdar Nepesov # ,Aziz A Bousfiha # ,Emine Hafize Erdeniz # ,Adem Karbuz # ,Nico Marr # ,Carmen Navarrete # ,Mehdi Adeli # ,Lennart Hammarstrom # ,Hassan Abolhassani # ,Nima Parvaneh # ,Saleh Al Muhsen # ,Mohammed F Alosaimi # ,Fahad Alsohime # ,Maryam Nourizadeh # ,Mostafa Moin # ,Rand Arnaout # ,Saad Alshareef # ,Jamila El-Baghdadi # ,Ferah Genel # ,Roya Sherkat # ,Ayça Kiykim # ,Esra Yücel # ,Sevgi Keles # ,Jacinta Bustamante # ,Laurent Abel # ,Jean-Laurent Casanova # ,Stéphanie Boisson-Dupuis #

Adoptive T cell therapy cures mice from active hemophagocytic lymphohistiocytosis (HLH)

过继性 T 细胞疗法治愈小鼠活动性噬血细胞性淋巴组织细胞增生症 (HLH)

Kristoffer Weißert, Sandra Ammann, Tamara Kögl, Viviane Dettmer-Monaco, Christoph Schell, Toni Cathomen, Stephan Ehl, Peter Aichele

Dysregulated PI3K Signaling in B Cells of CVID Patients

CVID患者B细胞中PI3K信号传导失调

Ina Harder ,Matthias Münchhalfen ,Geoffroy Andrieux ,Melanie Boerries ,Bodo Grimbacher ,Hermann Eibel ,Maria Elena Maccari ,Stephan Ehl ,Jürgen Wienands ,Julia Jellusova ,Klaus Warnatz ,Baerbel Keller

Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)

Hermansky-Pudlak 综合征:HPS3、HPS5 和 DTNBP1 (HPS-7) 基因中新变异的鉴定

Doris Boeckelmann, Mira Wolter, Katharina Neubauer, Felix Sobotta, Antonia Lenz, Hannah Glonnegger, Barbara Käsmann-Kellner, Jasmin Mann, Stephan Ehl, Barbara Zieger