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