[Monogenic and acquired autoinflammatory diseases].

Abstract

Autoinflammation is a disorder of natural (innate) immunity, which can be monogenic, or acquired. Monogenic autoinflammatory diseases include inflammasomopathies, actinopathies, endoplasmic reticulum stress mutations, NFκB-associated diseases, interferonopathies, mutations in endogenous antagonist genes, and DADA2. Acquired autoinflammatory diseases include numerous inflammatory rheumatological diseases, intestinal, skin and bone diseases, as well as other conditions (e.g., VEXAS, IgG4-related disease, recurrent pericarditis, type 2 diabetes, interstitial lung disease). In this summary, we review the concept and main mechanisms of autoinflammation, the most important monogenic and acquired autoinflammatory conditions, the role of inborn errors of immunity in autoinflammation, as well as the possible therapeutic options. Orv Hetil. 2024; 165(18): 683–697.