Identifying Novel Inborn Errors of the Immune System - Primary Immunodeficiencies with Defective Class Switch and Autoimmunity (Paperback, 1st ed. 2017)

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.

General

Imprint:	Springer
Country of origin:	Netherlands
Series:	BestMedDiss
Release date:	2017
First published:	2017
Authors:	Elisabeth Salzer
Dimensions:	210 x 148 x 5mm (L x W x T)
Format:	Paperback
Pages:	76
Edition:	1st ed. 2017
ISBN-13:	978-3-658-16795-0
Categories:	Books > Medicine > Pre-clinical medicine: basic sciences > Medical genetics Books > Medicine > Clinical & internal medicine > Diseases & disorders > Immunology > General Promotions
LSN:	3-658-16795-5
Barcode:	9783658167950

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