Rare Autoinflammation & Autoimmune Diseases

Autoinflammatory diseases are a recently defined set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Unlike autoimmune disorders, in which the disease is caused by abnormalities of the adaptive immune system, patients with autoinflammatory diseases do not produce autoantibodies or antigen-specific T or B cells. Instead, the autoinflammatory diseases are characterized by errors in the innate immune system. 

Most autoinflammatory diseases are genetic and present during childhood. A hallmark in the understanding of these mysterious disorders was the discovery of the inflammasome reaction in the beginning of this century. Most autoinflammatory diseases demonstrate an inappropriate activation of the inflammasome, leading to release of the pro-inflammatory cytokine IL-1β. 

The autoinflammatory syndromes are clinically diverse, but tend to cause episodes of fever, joint pains, skin rashes, abdominal pains and may lead to chronic life-threatening complications such as amyloidosis. However, there are some autoinflammatory diseases that are not known to have a clear genetic cause. This includes PFAPA, which is the most common autoinflammatory disease seen in children, characterized by episodes of fever, aphthous stomatitis, pharyngitis, and cervical adenitis. Other autoinflammatory diseases that do not have clear genetic causes include systemic-onset juvenile idiopathic arthritis and chronic recurrent multifocal osteomyelitis.

Still younger is a group of autoinflammatory diseases called interferonopathies. This group is primarily not characterized by an overactive inflammasome reaction, but by an amplified interferon signature.

The talk will provide first insights into all these aspects of autoinflammation. Furthermore, it will demonstrate based on a specific patient presentation, how difficult it might get to configurate a personalized therapy for these rare disorders.