Inborn errors of immunity in paediatric neurology

Abstract

Inborn errors of immunity has become a rapidly evolving medical field, with nearly 500 conditions; as a result, the sheer volume of information can be overwhelming. In order to make a sound diagnosis, clinicians must adopt an integrative approach and identify all related and seemingly unrelated features. It is therefore crucial to understand the complex networks and interactions between organelles, cells, pathways and organ systems thoroughly. The immune system is an important stakeholder in all these networks. It is designed to be our friend, defending and protecting us by regulating tolerance. However, it can also turn into an enemy. Every individual has their own unique combination of genetic predisposition, trigger factors and environmental factors that contribute to the spectrum of neurological diseases. The main objective of this article is to create a mind map that starts with the clinical presentation.