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 system and highlighted essential players in these complex signaling networks.
Identifying Novel Inborn Errors of the Immune System Ebook
Primary Immunodeficiencies with Defective Class Switch and Autoimmunity
By: Elisabeth Salzer
Publisher:
Springer
Print ISBN: 9783658167950, 3658167955
eText ISBN: 9783658167967, 3658167963
Copyright year: 2017
Format: PDF
Available from $ 79.99 USD
SKU: 9783658167967
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