Many faces of primary immunodeficiencies: Guess what?

Abstract

Primary immunodeficiencies, also known as inborn errors of immunity (IEI), are a group of more than 400 rare disorders that vary in severity and clinical picture. A properly functioning immune system protects the host from foreign substances (e.g. infection agents, abnormal cells, etc.) that are responsible for diseases. That is why IEI may cause increased susceptibility to various infections and certain conditions or disorders – autoinflammatory diseases, allergy, autoimmunity, bone marrow failure, and/or malignancy. The discovery of novel IEI demonstrates that distinct types of variants in the same gene may cause disparate clinical conditions. Undiagnosed cases of IEI, delayed diagnosis and/or delayed treatment contribute to the remarkable increase of morbidity and mortality in this group of patients. During an interactive case-based lecture, knowledge about primary immunodeficiencies will be enhanced and encourage participants to think outside the box.