In July 2018, RheumNow launched a “Live Vote” survey of US and non-US rheumatologists that asked how they diagnose and treat systemic juvenile idiopathic arthritis (sJIA), also known as “Still’s disease”. It appears that many prefer to start therapy with an IL-1 inhibitor, after a course of steroids and MTX/DMARD. Yet, these findings suggest there are significant unmet needs in the diagnosis and management of sJIA patients.

While many autoinflammatory syndromes are driven and managed with select inhibition of IL-1, IL-18 or IL-6, a subset are driven by type I interferon and are referred to as interferonopathies. These monogenic IFN–mediated disorders present in infancy with fevers, systemic inflammation, an IFN response gene signature, inflammatory organ damage, and high mortality.

The New England Journal of Medicine reports that the anti-interleukin (IL)-1β monoclonal antibody canakinumab (Ilaris) was effective in the treatment of three distinct autoinflammatory recurrent fever syndromes (FMF, TRAPS, HIDS) with responses that were far superior to what was see

The identification of a genetic susceptibility locus for systemic juvenile idiopathic arthritis (sJIA) has important implications for treatment of this severe, poorly understood illness, researchers reported.

SOBI has announced that Kineret (anakinra) has been approved by the European Commission (EC) for the treatment of Still’s disease (Systemic Juvenile Idiopathic Arthritis [SJIA] and Adult-Onset Still’s Disease [AOSD]), in all 28 European Union (EU) member states.

The German Autoinflammatory Disease (AID) registry has studied the effects of the IL-6 inhibitor tocilizumab (TCZ) in systemic juvenile idiopathic arthritis (sJIA) patients and shown a clinical response rate of 35% during the first 12 weeks, and inactive disease and/or remission (with medication)

Gabay and colleagues have reported the results of a novel new recombinant human IL-18 binding protein, tadekinig alfa, demonstrating its effectiveness in an open-label dose escalating study in patients with adult-onset Still's disease (AOSD).

Since 2000, the German Biologics register (BiKeR) has prospectively enrolled children with juvenile idiopathic arthritis to assess outcomes with biologic therapies.  A new report evaluates the efficacy and safety of etanercept (ETA), tocilizumab (TOC) and the interleukin-1 inhibitors (anakin

The NLRP3 inflammasome is a critical component of the innate immune system and activation of NLRP3 inflammasome results in caspase-1–dependent secretion of the proinflammatory cytokines IL-1β and IL-18.

 Adult-onset Still's disease (AOSD) is the adult continum of systemic-onset juvenile idiopathic arthritis (SoJIA). Treatment of this febrile polyarticular systemic disorder can be complex, but has been relieved by several specific biologic therapies.

Adult-onset Still disease (AOSD) is usually regarded as an autoinflammatory disease, largely because of its symptomatology and responsiveness to IL-1 inhibition.

The diagnosis of periodic fevers is unified by undiagnosed but recurrent fever. Unfortunately the diagnosis of these disorders is hampered by their infrequency, protean features and a lack of clear criteria. Even more problematic is knowing who should be tested and for which monogenic marker?

Researchers at the National Institutes of Health, led by Dr. Dan Kastner, have led the way in the discovery and understanding of numerous autoinflammatory diseases.

Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory disease resulting from mutations of the TNF super family receptor 1A (TNFRSF1A) gene.

The gene mutations underlying inflammasome activity have been well described, but there appears to be variable penetrance among patients with the same gene mutation, suggesting additional mechanisms may influence disease expression.

Systemic juvenile idiopathic arthritis (SoJIA) is one of the most common underlying etiologies to the macrophage activation syndrome (MAS).  

Pregnancy and Immune Modulating Therapies

Althought EULAR currently recommends the pneumococcal vaccine be given to patients with inflammatory rheumatic diseases and the Centers for Disease Control and Prevention (CDC) recommends the vaccine in patients treated with immunosuppressive drugs, a recent brief report suggests it be

Researchers at CHOP have published their investigations into the heritability of pediatric autoimmune diseases that affects roughly one in 12 persons.

The defining triad of Blau's syndrome includes granulomatous polyarthritis, dermatitis and uveitis.  This rare, monogenic, autosomal dominant disorder stems from a "gain in function" mutation of the pattern recognition receptor NOD2.