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Identifying Novel Inborn Errors of the Immune System
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.
Tumori
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Gluten-Related Disorders
Gluten-related disorders are prevalent worldwide, especially in developing countries. These diseases have similar clinical manifestations. Although they are characterized by a specific pathophysiological response to ingestion of gluten, differential diagnosis of these disorders is very challenging. Failure to diagnose and treat these disorders at an early stage, can lead to irreparable health and cost damages. Gluten-Related Disorders: Diagnostic Approaches, Treatment Pathways, and Future Perspectives solves this problem by reporting up-to-date scientific findings that allow for faster, more accurate diagnosis of gluten-related disorders as well as guidance on treatment options. By identifyi...
02 Company Book - WHOLESALE AND FOREIGN TRADE
This book is the largest referral for Turkish companies.
