Salzer Identifying Novel Inborn Errors of the Immune System

Primary Immunodeficiencies with Defective Class Switch and Autoimmunity
1. Auflage 2017
ISBN: 978-3-658-16796-7
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark

E-Book, Englisch, 76 Seiten, Web PDF

Reihe: Medicine (R0)

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.

Zielgruppe

Research

Autoren/Hrsg.

Salzer, Elisabeth

Inhaltsverzeichnis

CD27 Deficiency-Description of a Large Patient Cohort.- PRKCD Deficiency with Lupus-Like Autoimmunity.- IL-21 Deficiency Results in Very Early-Onset Inflammatory Bowel Disease.

Über Autor(innen)

Dr. Elisabeth Salzer works on the discovery and description of novel immunodeficiencies in children and adolescents at the CeMM Center for Molecular Medicine.