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

• Κύριος συγγραφέας: Salzer, Elisabeth (Συγγραφέας)
• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Wiesbaden : Springer Fachmedien Wiesbaden : Imprint: Springer, 2017.
• Σειρά: BestMedDiss
• Θέματα: Medicine.; Human genetics.; Immunology.; Pediatrics.; Medicine & Public Health.; Human Genetics.

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...