EXPLORE AUTOINFLAMMATORY DISEASE

Autoinflammatory diseases are complex and can be difficult to identify. Their symptoms and features can overlap with other autoinflammatory and autoimmune diseases, making them particularly challenging to diagnose.^1-4

Proinflammatory cytokines drive systemic inflammation in patients with autoinflammatory diseases.^5-8 These diseases may be monogenic, such as several periodic fever syndromes (PFS); deficiency of the interleukin-1 receptor antagonist (DIRA); pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome; or Blau syndrome. Autoinflammatory diseases may also be polygenic, such as Still’s disease, including systemic juvenile idiopathic arthritis (SJIA) and adult-onset Still’s disease (AOSD); periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome; or Behçet’s disease.^1,2

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Autoinflammatory vs Autoimmune Diseases

Autoinflammatory and autoimmune diseases are different. Autoinflammatory diseases are mediated by hyperactivation of the innate immune system and characterized by dysregulated cytokine production.^9,10 Conversely, autoimmune diseases are mediated by dysregulation of the adaptive immune system and are typically characterized by the production of autoantibodies.^10,11

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Mechanism of Autoinflammatory Disease

Autoinflammatory diseases are driven by an excess of proinflammatory cytokines, including IL-1β, IL-6, IL-18, and TNF.^11-16 The overproduction of these proinflammatory cytokines can trigger a range of responses.

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Understanding Autoinflammatory Diseases

Autoinflammatory diseases are divided into 2 categories: monogenic or polygenic.^1,2,17 However, the awareness of autoinflammatory diseases is still limited, and as a result, it may take years or even decades to reach a diagnosis.¹⁸

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IL-1=interleukin 1; IL-1β=interleukin 1 beta; IL-6=interleukin 6; IL-18=interleukin 18; MOD=mechanism of disease; TNF=tumor necrosis factor.

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