Autoinflammation, immune dysregulation, and eosinophilia

Definition:

Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant systemic immune dysregulatory syndrome caused by gain-of-function mutations in JAK1. JAK-STAT signaling pathway plays an integral role in extracellular cytokine and growth factor signaling, as well as in controlling hematopoiesis and immune function. It has been reported that AIIDE is rescued by JAK inhibitor therapy.

References:

[1]. Conor N Gruber, et al. Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function. Immunity. 2020 Sep 15;53(3):672-684.e11. [Content Brief]

[2]. Kate L Del Bel, et al. JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome. J Allergy Clin Immunol. 2017 Jun;139(6):2016-2020.e5. [Content Brief]

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