Autoinflammatory diseases (AID) are conditions leading to a hyperactivation of innate immunity without any underlying infection, and may be poly- (e.g. Still's disease) or monogenic.
Inactivation of the A20 gene is linked to a specific form of lymphoma and is studied in patients with haploinsufficiency of A20 (HA20), revealing immune system impacts.
In a study of 34 HA20 patients, researchers found that the loss of one A20 gene copy leads to an increase in self-reactive lymphocyte receptors, often seen in lymphomas.
The immune changes are driven by a feedback loop involving tumor necrosis factor (TNF), A20, and NF-κB, and can potentially be reversed by anti-TNF treatment, but may still lead to lymphoma development.
* A newly identified group of AIDs is marked by high levels of interleukin 18 (IL-18), a key pro-inflammatory cytokine that influences immune cell behavior and responses.
* The review discusses how IL-18 is relevant in diagnosing and treating AIDs like Still's disease and those caused by specific gene mutations, noting that measuring IL-18 can help with diagnosis and therapy targeting IL-18 is being researched.