Identifying Novel Inborn Errors of the Immune System: Primary Immunodeficiencies with Defective Class Switch and Autoimmunity - Couverture souple

Salzer, Elisabeth

Couverture souple

ISBN 10 : 3658167955 ISBN 13 : 9783658167950

Editeur : Springer, 2017

Synopsis

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.

A propos du livre

À propos de l?auteur

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

Détails de l'édition

• Éditeur: Springer
• Date d'édition: 2017
• Langue: anglais
• ISBN 10: 3658167955
• ISBN 13: 9783658167950
• Reliure: Broché
• Numéro d'édition: 1
• Nombre de pages: 100
• Coordonnées du fabricant: non disponible
• Personne responsable: CMN Printpool Inh. Mathis Neumann; https://www.also.com/ec/cms5/en_6000/6000/index.jsp; ; Friedrich-Karl-Str. 9; Hamburg; Allemagne