Identifying Novel Inborn Errors of the Immune System: Primary Immunodeficiencies with Defective Class Switch and Autoimmunity 2017 Edition Contributor(s): Salzer, Elisabeth (Author) |
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ISBN: 3658167955 ISBN-13: 9783658167950 Publisher: Springer OUR PRICE: $52.24 Product Type: Paperback Published: January 2017 |
Additional Information |
BISAC Categories: - Medical | Pediatrics - Medical | Immunology - Medical | Genetics |
Dewey: 611.018 |
Series: Bestmeddiss |
Physical Information: 0.21" H x 5.83" W x 8.27" (0.29 lbs) 76 pages |
Descriptions, Reviews, Etc. |
Publisher Description: 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. |