Abstract
Systems immunology is an integrative approach that leverages high throughput technologies as well as mathematical and computational tools to investigate complex immunologic diseases by looking at the state of a system on a comprehensive scale. Gene expression profiling, also known as transcriptomics, measures the expression level of mRNAs (transcripts) in a given cell population at a specific time. Over the past decade, several major gene expression discoveries have been made in pediatric rheumatology, most notably the alpha interferon signature of systemic lupus erythematosus and the interleukin-1 signature in systemic onset juvenile idiopathic arthritis. This article reviews these discoveries, their clinical implications and the recent associated literature. Interferon-α has been exploited as a therapeutic target in lupus. Interleukin-1 blockade has been utilized to treat systemic onset juvenile idiopathic arthritis and related autoinflammatory diseases. Current gene expression studies extend our understanding of the disease pathogenesis of lupus and systemic onset juvenile idiopathic arthritis as well as related conditions. This knowledge has translated to the bedside with implications for clinical practice and direct therapeutic targeting.
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