| 书目名称 | Identifying Novel Inborn Errors of the Immune System |
| 副标题 | Primary Immunodefici |
| 编辑 | Elisabeth Salzer |
| 视频video | http://file.papertrans.cn/461/460872/460872.mp4 |
| 概述 | Publication in the field of medical sciences.Includes supplementary material: |
| 丛书名称 | BestMedDiss |
| 图书封面 |  |
| 描述 | .In her study Elisabeth Salzer describes three novel monogenic diseases. For .CD27. deficiency Elisabeth Salzer describes a large cohort of patients. Although all patients shared the same causative missense mutation, they displayed diverse clinical presentations. In another patient she was able to identify a mutation in .PRKCD. resulting in a primary immunodeficiency with severe Lupus-like autoimmunity. The patient exhibited increased mRNA levels of .IL6.. Therefore, treatment with Tocilizumab, a humanized anti-IL-6 receptor monoclonal antibody was suggested. In a family with a history of deaths due to inflammatory bowel disease she identified a missense mutation in .IL21.. She produced wild type and mutated IL-21 protein and demonstrated a loss of function phenotype. As IL-21 is in clinical trials, she proposed a potentially curative treatment option. These discoveries contributed to the understanding of the multifaceted regulatory mechanisms of the immune systemand highlighted essential players in these complex signaling networks.. |
| 出版日期 | Book 2017 |
| 关键词 | CD27; monogenic disease; PRKCD; IL21; Lupus-like autoimmunity; Tocilizumab |
| 版次 | 1 |
| doi | https://doi.org/10.1007/978-3-658-16796-7 |
| isbn_softcover | 978-3-658-16795-0 |
| isbn_ebook | 978-3-658-16796-7Series ISSN 2626-7659 Series E-ISSN 2626-7667 |
| issn_series | 2626-7659 |
| copyright | The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Fachmedien Wies |
|Archiver|手机版|小黑屋|
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