Autoinflammatory diseases are a group of rare,primarily monogenic disorders characterized by recurrent episodes of systemicinflammation in the absence of high-titer autoantibodies or antigen-specific Tcells.
These conditions result from dysregulation ofthe innate immune system, often due to mutations in genes involved in theinflammatory response. Common symptoms include recurrent fever, rash, jointpain, and abdominal discomfort. Conditions such as Familial MediterraneanFever, Cryopyrin-Associated Periodic Syndromes, and TNF Receptor-AssociatedPeriodic Syndrome fall under this category. Diagnosis is typically based onclinical presentation, genetic testing, and exclusion of other inflammatoryconditions. Treatment varies based on the underlying condition and may includeincludes nonsteroidal anti-inflammatory drugs, colchicine, corticosteroids, andbiologics 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 specializedcare and ongoing monitoring.
