Paediatric rheumatic diseases articles from across Nature Portfolio

Juvenile idiopathic arthritis treatment has evolved with new therapies, early remission goals and global efforts, including randomized trials and a treat-to-target strategy. This Review summarizes current evidence and therapeutic approaches to the management of non-systemic phenotypes of juvenile idiopathic arthritis.

In this Review, the authors discuss the role of IL-18 in human inflammatory disease. They describe the mechanisms of IL-18 biology, discuss how dysregulation of this biology leads to immunopathology, and note the biological and clinical circumstances in which therapeutic manipulation might alleviate suffering and save lives.

Treatment of ‘classic’ systemic juvenile idiopathic arthritis (sJIA) is evolving markedly, and treatment options for early sJIA without arthritis, and refractory or complicated sJIA are not well defined. This Review outlines current approaches and provides an outlook on knowledge gaps.

Studies in 2023 have described eight new monogenic autoinflammatory diseases and their accompanying disease-causing mutations, uncovering clinical phenotypes, pathogenic mechanisms and therapeutic targets. Researchers have identified autoinflammatory pathways linked to mitochondrial dysfunction or overactivation of SRC family kinases.

New findings support the use of targeted next-generation sequencing of NOD2 to reassess the diagnosis of juvenile idiopathic arthritis in patients with signs and symptoms suggestive of Blau syndrome.

In a phase III trial, the oral Janus kinase inhibitor baricitinib was safe and effective in patients with juvenile idiopathic arthritis who previously had an inadequate response to DMARD therapy.

The pathogenesis of juvenile dermatomyositis (JDM) is complex and various evidence implicate a role for type I interferons. Could the use of a bioengineered paediatric skeletal muscle model provide insight into this disease and have potential for high throughput testing of therapeutic agents?

Phase II trial results demonstrate rapid remission of macrophage activation syndrome in patients treated with the anti-IFNγ antibody emapalumab.

New evidence from animal models and human studies suggests that mammalian target of rapamycin has a role in the pathophysiology of Still’s disease and macrophage activation syndrome.