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Review
. 2023 Sep 1;35(5):285-292.
doi: 10.1097/BOR.0000000000000953. Epub 2023 Jul 6.

Update on autoinflammatory diseases

Kosar Asna Ashari  1   2   3 , Jonathan S Hausmann  4   5 , Fatma Dedeoglu  4
Affiliations
Review

Update on autoinflammatory diseases

Kosar Asna Ashari et al. Curr Opin Rheumatol. .

Abstract

Purpose of review: Although the concept of systemic autoinflammatory diseases (SAIDs) is still very young, our knowledge about them is exponentially growing. In the current review, we aim to discuss novel SAIDs and autoinflammatory pathways discovered in the last couple of years.

Recent findings: Advances in immunology and genetics have led to the discovery of new pathways involved in autoinflammation, as well as several new SAIDs, including retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH syndrome), vacuoles, E1 enzyme, X-linked autoinflammatory somatic (VEXAS) syndrome, TBK1 deficiency, NEMO deleted exon 5 autoinflammatory syndrome (NDAS), and disabling pansclerotic morphea. Progress in immunobiology and genetics has also brought forth novel treatments for SAIDs. Personalized medicine has made significant progress in areas such as cytokine-targeted therapies and gene therapies. However, much work remains, especially in measuring and improving the quality of life in patients with SAIDs.

Summary: In the current review, we discuss the novelties in the world of SAIDs, including mechanistic pathways of autoinflammation, pathogenesis, and treatment. We hope this review helps rheumatologists to gain an updated understanding of SAIDs.

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