A Case of Adult-Onset Still's Disease Caused by a Novel Splicing Mutation in Successfully Treated With Tocilizumab.

encodes the NF-κB regulatory protein A20. High-penetrance heterozygous mutations in cause a haploinsufficiency of A20 (HA20), inadequate inhibition of NF-κB pathway, and an early onset autoinflammatory disorder. However, the clinical phenotype of patients with HA20 varies greatly and clinical diagnoses prior to establishing the genetic cause, included both autoimmune and autoinflammatory conditions.

Macrophage responses to lipopolysaccharide are modulated by a feedback loop involving prostaglandin E, dual specificity phosphatase 1 and tristetraprolin.

In many different cell types, pro-inflammatory agonists induce the expression of cyclooxygenase 2 (COX-2), an enzyme that catalyzes rate-limiting steps in the conversion of arachidonic acid to a variety of lipid signaling molecules, including prostaglandin E (PGE). PGE has key roles in many early inflammatory events, such as the changes of vascular function that promote or facilitate leukocyte recruitment to sites of inflammation. Depending on context, it also exerts many important anti-inflammatory effects, for example increasing the expression of the anti-inflammatory cytokine interleukin 10 (IL-10), and decreasing that of the pro-inflammatory cytokine tumor necrosis factor (TNF).