Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity

Introduction: Self-tolerance and regulation are fundamental functions of the immune system. Inborn errors of immunity (IEI) have broad clinical manifestations and autoimmune diseases are frequently encountered. Objective: We aimed to identify monogenic etiologies in our patients with early-onset, familial presentation, multiple autoimmune diseases (AID), or autoimmunity associated with other features.