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

Diagnostic odyssey of patients with the rare immunodeficiency activated PI3 kinase delta syndrome (APDS): case study from expert and patient surveys

罕见免疫缺陷激活型PI3激酶δ综合征(APDS)患者的诊断历程:基于专家和患者调查的案例研究

Wolf, Hermann Maximilian; Candotti, Fabio; Spelsberg, Roman; Sogkas, Georgios; Bleß, Hans-Holger; Herrmann, Kirsten H; Hauck, Fabian

Clinical and immunological differentiation of isolated IgG and combined IgG & IgM deficiencies from common variable immunodeficiency

孤立性IgG缺乏症和IgG+IgM联合缺乏症与常见变异型免疫缺陷的临床和免疫学鉴别

Dogru, Yagmur; Atschekzei, Faranaz; Dogru, Damla; Witte, Torsten; Sogkas, Georgios

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients

RNU4ATAC相关剪接体病的表型谱:4例新病例及对既往报道患者的综合重新评估

Lovric, Svjetlana; Berking, Ann-Cathrine; Ringshausen, Felix C; Körholz, Julia; Porrmann, Joseph; Hütter, Sylvia; Bräsen, Jan H; di Donato, Nataliya; Schmidt-Ott, Kai M; Witte, Torsten; von Hardenberg, Sandra; Sogkas, Georgios

Reappraisal of IgG subclass deficiencies: a retrospective comparative cohort study

对IgG亚类缺陷的重新评估:一项回顾性比较队列研究

Dogru, Damla; Dogru, Yagmur; Atschekzei, Faranaz; Elsayed, Abdulwahab; Dubrowinskaja, Natalia; Ernst, Diana; Witte, Torsten; Gödecke, Vega; Sogkas, Georgios

JAK inhibitors to treat STAT3 gain-of-function: a single-center report and literature review

JAK抑制剂治疗STAT3功能获得性突变:单中心报告及文献综述

Atschekzei, Faranaz; Traidl, Stephan; Carlens, Julia; Schütz, Katharina; von Hardenberg, Sandra; Elsayed, Abdulwahab; Ernst, Diana; Risser, Linus; Thiele, Thea; Graalmann, Theresa; Raab, Juliana; Baumann, Ulrich; Witte, Torsten; Sogkas, Georgios

Editorial: Inborn Errors of Immunity (IEI) breaking immune homeostasis and tolerance: a key role for T regulatory cells

社论:先天性免疫缺陷(IEI)破坏免疫稳态和耐受性:T调节细胞的关键作用

De Rosa, Veronica; Sogkas, Georgios; Bacchetta, Rosa

Primary Sjögren's syndrome independently promotes premature subclinical atherosclerosis

原发性干燥综合征可独立促进过早发生亚临床动脉粥样硬化。

Zehrfeld, Nadine; Abelmann, Malin; Benz, Sabrina; Zippel, Clara Luisa; Beider, Sonja; Kramer, Emelie; Seeliger, Tabea; Sogkas, Georgios; Gödecke, Vega; Ahrenstorf, Gerrit; Armbruster, Franz Paul; Skripuletz, Thomas; Witte, Torsten; Derda, Anselm Arthur; Sonnenschein, Kristina; Ernst, Diana

Novel hypermorphic variants in IRF2BP2 identified in patients with common variable immunodeficiency and autoimmunity

在患有常见变异性免疫缺陷和自身免疫的患者中发现 IRF2BP2 的新型高态变异

Manfred Anim, Georgios Sogkas, Nadezhda Camacho-Ordonez, Gunnar Schmidt, Abdulwahab Elsayed, Michele Proietti, Torsten Witte, Bodo Grimbacher, Faranaz Atschekzei

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

人类替代性NF-κB通路缺陷中针对I型干扰素的自身抗体

Tom Le Voyer ,Audrey V Parent # ,Xian Liu # ,Axel Cederholm # ,Adrian Gervais ,Jérémie Rosain ,Tina Nguyen ,Malena Perez Lorenzo ,Elze Rackaityte ,Darawan Rinchai ,Peng Zhang ,Lucy Bizien ,Gonca Hancioglu ,Pascale Ghillani-Dalbin ,Jean-Luc Charuel ,Quentin Philippot ,Mame Sokhna Gueye ,Majistor Raj Luxman Maglorius Renkilaraj ,Masato Ogishi ,Camille Soudée ,Mélanie Migaud ,Flore Rozenberg ,Mana Momenilandi ,Quentin Riller ,Luisa Imberti ,Ottavia M Delmonte ,Gabriele Müller ,Baerbel Keller ,Julio Orrego ,William Alexander Franco Gallego ,Tamar Rubin ,Melike Emiroglu ,Nima Parvaneh ,Daniel Eriksson ,Maribel Aranda-Guillen ,David I Berrios ,Linda Vong ,Constance H Katelaris ,Peter Mustillo ,Johannes Raedler ,Jonathan Bohlen ,Jale Bengi Celik ,Camila Astudillo ,Sarah Winter ,Aurélien Guffroy ,Joseph L DeRisi ,David Yu ,Corey Miller ,Yi Feng ,Audrey Guichard ,Vivien Béziat ,Jacinta Bustamante ,Qiang Pan-Hammarström ,Yu Zhang ,Lindsey B Rosen ,Steve M Holland ,Marita Bosticardo ,Heather Kenney ,Riccardo Castagnoli ,Charlotte A Slade ,Kaan Boztuğ ,Nizar Mahlaoui ,Sylvain Latour ,Roshini S Abraham ,Vassilios Lougaris ,Fabian Hauck ,Anna Sediva ,Faranaz Atschekzei ,Georgios Sogkas ,M Cecilia Poli ,Mary A Slatter ,Boaz Palterer ,Michael D Keller ,Alberto Pinzon-Charry ,Anna Sullivan ,Luke Droney ,Daniel Suan ,Melanie Wong ,Alisa Kane ,Hannah Hu ,Cindy Ma ,Hana Grombiříková ,Peter Ciznar ,Ilan Dalal ,Nathalie Aladjidi ,Miguel Hie ,Estibaliz Lazaro ,Jose Franco ,Sevgi Keles ,Marion Malphettes ,Marlene Pasquet ,Maria Elena Maccari ,Andrea Meinhardt ,Aydan Ikinciogullari ,Mohammad Shahrooei ,Fatih Celmeli ,Patrick Frosk ,Christopher C Goodnow ,Paul E Gray ,Alexandre Belot ,Hye Sun Kuehn ,Sergio D Rosenzweig ,Makoto Miyara ,Francesco Licciardi ,Amélie Servettaz ,Vincent Barlogis ,Guillaume Le Guenno ,Vera-Maria Herrmann ,Taco Kuijpers ,Grégoire Ducoux ,Françoise Sarrot-Reynauld ,Catharina Schuetz ,Charlotte Cunningham-Rundles ,Frédéric Rieux-Laucat ,Stuart G Tangye ,Cristina Sobacchi ,Rainer Doffinger ,Klaus Warnatz ,Bodo Grimbacher ,Claire Fieschi ,Laureline Berteloot ,Vanessa L Bryant ,Sophie Trouillet Assant ,Helen Su ,Benedicte Neven ,Laurent Abel ,Qian Zhang ,Bertrand Boisson ,Aurélie Cobat ,Emmanuelle Jouanguy ,Olle Kampe ,Paul Bastard ,Chaim M Roifman ,Nils Landegren ,Luigi D Notarangelo ,Mark S Anderson ,Jean-Laurent Casanova ,Anne Puel

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

单基因早发性淋巴增殖和自身免疫:STAT3功能获得综合征的自然史

Leiding, Jennifer W; Vogel, Tiphanie P; Santarlas, Valentine G J; Mhaskar, Rahul; Smith, Madison R; Carisey, Alexandre; Vargas-Hernández, Alexander; Silva-Carmona, Manuel; Heeg, Maximilian; Rensing-Ehl, Anne; Neven, Bénédicte; Hadjadj, Jérôme; Hambleton, Sophie; Ronan Leahy, Timothy; Meesilpavikai, Kornvalee; Cunningham-Rundles, Charlotte; Dutmer, Cullen M; Sharapova, Svetlana O; Taskinen, Mervi; Chua, Ignatius; Hague, Rosie; Klemann, Christian; Kostyuchenko, Larysa; Morio, Tomohiro; Thatayatikom, Akaluck; Ozen, Ahmet; Scherbina, Anna; Bauer, Cindy S; Flanagan, Sarah E; Gambineri, Eleonora; Giovannini-Chami, Lisa; Heimall, Jennifer; Sullivan, Kathleen E; Allenspach, Eric; Romberg, Neil; Deane, Sean G; Prince, Benjamin T; Rose, Melissa J; Bohnsack, John; Mousallem, Talal; Jesudas, Rohith; Santos Vilela, Maria Marluce Dos; O'Sullivan, Michael; Pachlopnik Schmid, Jana; Průhová, Štěpánka; Klocperk, Adam; Rees, Matthew; Su, Helen; Bahna, Sami; Baris, Safa; Bartnikas, Lisa M; Chang Berger, Amy; Briggs, Tracy A; Brothers, Shannon; Bundy, Vanessa; Chan, Alice Y; Chandrakasan, Shanmuganathan; Christiansen, Mette; Cole, Theresa; Cook, Matthew C; Desai, Mukesh M; Fischer, Ute; Fulcher, David A; Gallo, Silvanna; Gauthier, Amelie; Gennery, Andrew R; Gonçalo Marques, José; Gottrand, Frédéric; Grimbacher, Bodo; Grunebaum, Eyal; Haapaniemi, Emma; Hämäläinen, Sari; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Hoffman, Hal M; Gonzalez-Granado, Luis Ignacio; Guerrerio, Anthony L; Kainulainen, Leena; Kumar, Ashish; Lawrence, Monica G; Levin, Carina; Martelius, Timi; Neth, Olaf; Olbrich, Peter; Palma, Alejandro; Patel, Niraj C; Pozos, Tamara; Preece, Kahn; Lugo Reyes, Saúl Oswaldo; Russell, Mark A; Schejter, Yael; Seroogy, Christine; Sinclair, Jan; Skevofilax, Effie; Suan, Daniel; Suez, Daniel; Szabolcs, Paul; Velasco, Helena; Warnatz, Klaus; Walkovich, Kelly; Worth, Austen; Seppänen, Mikko R J; Torgerson, Troy R; Sogkas, Georgios; Ehl, Stephan; Tangye, Stuart G; Cooper, Megan A; Milner, Joshua D; Forbes Satter, Lisa R