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.
Del Bel KL, Ragotte RJ, Saferali A, Lee S, Vercauteren SM, Mostafavi SA, Schreiber RA, Prendiville JS, Phang MS, Halparin J, Au N, Dean JM, Priatel JJ, Jewels E, Junker AK, Rogers PC, Seear M, McKinnon ML, Turvey SE
タイトル
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
