Autoinflammatory diseases are a group of rare, primarily monogenic disorders characterized by recurrent episodes of systemic inflammation in the absence of high-titer autoantibodies or antigen-specific T cells.
These conditions result from dysregulation of the innate immune system, often due to mutations in genes involved in the inflammatory response. Common symptoms include recurrent fever, rash, joint pain, and abdominal discomfort. Conditions such as Familial Mediterranean Fever, Cryopyrin-Associated Periodic Syndromes, and TNF Receptor-Associated Periodic Syndrome fall under this category. Diagnosis is typically based on clinical presentation, genetic testing, and exclusion of other inflammatory conditions. Treatment varies based on the underlying condition and may include nonsteroidal anti-inflammatory drugs, colchicine, corticosteroids, and biologics targeting specific inflammatory pathways. In rare cases, hematopoietic stem cell transplantation may be necessary to cure the disease. Given their complexity and rarity, these diseases often require specialized care and ongoing monitoring.
