Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing

Introduction Monogenic autoinflammatory diseases are a group of genetic conditions characterized by a dysregulation of inflammatory response that include more than 20 diseases. Despite the fact that they are different clinical entities, several signs and symptoms are shared, making their differential diagnosis difficult. Moreover, in most cases, a definitive diagnosis is exclusively achieved by a positive genetic study. The need to analyze different genes makes this process costly in terms of both time and money. The arrival of next generation sequencing into clinics can overcome these problems.