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

• Main Author: Salzer, Elisabeth (Author)
• Corporate Author: SpringerLink (Online service)
• Format: Electronic eBook
• Language: English
• Published: Wiesbaden : Springer Fachmedien Wiesbaden : Imprint: Springer, 2017.
• Series: BestMedDiss
• Subjects: Medicine.; Human genetics.; Immunology.; Pediatrics.; elektronické knihy; electronic books
• ISBN: 9783658167967
• DOI: 10.1007/978-3-658-16796-7
• Physical Description: XXIII, 76 p. 11 illus. online resource.

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 iden...

Table of Contents:

• 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.