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

Case report: anti-IL-6 autoantibodies in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

病例报告:免疫失调、多内分泌病、肠病、X连锁综合征患者体内存在抗IL-6自身抗体

Lorenzini, Tiziana; Malmström, Lars; Sabet, Ola; Milanesi, Samantha; Tintor, Diana; Walser, Severin; Köppen, Julius; Soomann, Maarja; Hauri-Hohl, Mathias; Prader, Seraina; Doffinger, Rainer; Pachlopnik Schmid, Jana

Natural History of Swiss Infants with Non-SCID T-cell Lymphopenia Detected by Newborn Screening: A Cohort Study

瑞士新生儿筛查发现的非重症联合免疫缺陷症(SCID)T细胞淋巴细胞减少症患儿的自然史:一项队列研究

Soomann, Maarja; Prader, Seraina; Agyeman, Philipp K A; Blanchard-Rohner, Geraldine; Buettcher, Michael; Kahlert, Christian R; Ritz, Nicole; Theodoropoulou, Aikaterini; Pachlopnik Schmid, Jana; Trück, Johannes

IKAROS protein stability is regulated by its early N-terminal region and C-terminal dimerization domain

IKAROS蛋白的稳定性受其早期N端区域和C端二聚化结构域的调控。

Klangkalya, Natchanun; Esteve-Sole, Ana; Gil Silva, Agustin A; Stoddard, Jennifer L; Niemela, Julie E; Prader, Seraina; Dueckers, Gregor; Igel, Lina; Niehues, Tim; Stewart-Bates, Benjamin C; Mousallem, Talal; Fleisher, Thomas A; Rosenzweig, Sergio D; Kuehn, Hye Sun

About the management of patients with wandering spleen in pregnancy and postpartum

关于妊娠期和产后游走脾患者的管理

Daniela, Brunialti; Sonia, Prader

A degranulation assay using Vγ9Vδ2 T cells for the rapid diagnosis of familial hemophagocytic syndromes

利用Vγ9Vδ2 T细胞进行脱颗粒试验,快速诊断家族性噬血细胞综合征

Olivia Jorisch-Mühlebach # ,Dina Pitts # ,Raphaela Tinner ,Hong Ying Teh ,Conrad Roelli ,Seraina Prader ,Stefano Vavassori # ,Jana Pachlopnik Schmid #

Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening

降低瑞士重症联合免疫缺陷患儿的死亡率和发病率:新生儿筛查的作用

Soomann, Maarja; Prader, Seraina; Pinto Monteiro, Aline; Zeilhofer, Ulrike; Hauri-Hohl, Mathias; Güngör, Tayfun; Pachlopnik Schmid, Jana; Trück, Johannes; Felber, Matthias

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

患有遗传性 MyD88 和 IRAK-4 缺陷的人类易患低氧性 COVID-19 肺炎

García-García, Ana; Pérez de Diego, Rebeca; Flores, Carlos; Rinchai, Darawan; Solé-Violán, Jordi; Deyà-Martínez, Àngela; García-Solis, Blanca; Lorenzo-Salazar, José M; Hernández-Brito, Elisa; Lanz, Anna-Lisa; Moens, Leen; Bucciol, Giorgia; Almuqamam, Mohamed; Domachowske, Joseph B; Colino, Elena; Santos-Perez, Juan Luis; Marco, Francisco M; Pignata, Claudio; Bousfiha, Aziz; Turvey, Stuart E; Bauer, Stefanie; Haerynck, Filomeen; Ocejo-Vinyals, Javier Gonzalo; Lendinez, Francisco; Prader, Seraina; Naumann-Bartsch, Nora; Pachlopnik Schmid, Jana; Biggs, Catherine M; Hildebrand, Kyla; Dreesman, Alexandra; Cárdenes, Miguel Ángel; Ailal, Fatima; Benhsaien, Ibtihal; Giardino, Giuliana; Molina-Fuentes, Agueda; Fortuny, Claudia; Madhavarapu, Swetha; Conway, Daniel H; Prando, Carolina; Schidlowski, Laire; Martínez de Saavedra Álvarez, María Teresa; Alfaro, Rafael; Rodríguez de Castro, Felipe; Meyts, Isabelle; Hauck, Fabian; Puel, Anne; Bastard, Paul; Boisson, Bertrand; Jouanguy, Emmanuelle; Abel, Laurent; Cobat, Aurélie; Zhang, Qian; Casanova, Jean-Laurent; Alsina, Laia; Rodríguez-Gallego, Carlos

Fatal RSV in SCID: the Importance of Infection Prevention Despite Newborn Screening

SCID 患者中致命性 RSV:尽管有新生儿筛查,但感染预防仍然至关重要

Soomann, Maarja; Prader, Seraina; Pachlopnik Schmid, Jana; Güngör, Tayfun; Trück, Johannes

Validation analysis of the novel imaging-based prognostic radiomic signature in patients undergoing primary surgery for advanced high-grade serous ovarian cancer (HGSOC)

对接受晚期高级别浆液性卵巢癌(HGSOC)根治性手术患者的新型基于影像的预后放射组学特征进行验证分析

Fotopoulou, Christina; Rockall, Andrea; Lu, Haonan; Lee, Philippa; Avesani, Giacomo; Russo, Luca; Petta, Federica; Ataseven, Beyhan; Waltering, Kai-Uwe; Koch, Jens Albrecht; Crum, William R; Cunnea, Paula; Heitz, Florian; Harter, Philipp; Aboagye, Eric O; du Bois, Andreas; Prader, Sonia

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome

病例报告:三例雅各布森综合征患者中ETS1基因缺失与近期胸腺移出细胞数量少相关

Trachsel, Tina; Prader, Seraina; Steindl, Katharina; Pachlopnik Schmid, Jana