DISEASE: Autoinflammation, immune dysregulation, and eosinophilia
Entry
H02537 Disease
Name
Autoinflammation, immune dysregulation, and eosinophilia
Description
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.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Nonorgan specific systemic autoimmune disorders
4A4Y Other specified nonorgan specific systemic autoimmune disorders
H02537 Autoinflammation, immune dysregulation, and eosinophilia
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06518 JAK-STAT signaling
H02537 Autoinflammation, immune dysregulation, and eosinophilia
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
Title
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
