Systemic Autoinflammatory Diseases: An Evolving Paradigm of Fevers Beyond Autoimmunity and Infections

Systemic autoinflammatory diseases comprise a diverse group of disorders unified by a state of sterile inflammation. These conditions are poorly recognized and often mistaken for chronic infections, particularly in settings like ours with a high burden of infections. The paradigm of these diseases is evolving. Sixty-five monogenic autoinflammatory diseases have been described to date, with a varied spectrum of clinical features, ranging from recurrent febrile episodes to multisystem manifestations, such as arthralgias, abdominal pain, ocular, and cutaneous symptoms. There is often a delay in the diagnosis of these conditions owing to limited awareness, which leads to disease-related morbidity and mortality. Timely recognition of these disorders can be facilitated by identifying suggestive features on history, examination, and laboratory evaluation.