Activating JAK1 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the nucleotide sequence of the JAK1 gene that results in constitutive activation of both tyrosine-protein kinase JAK1 and its downstream signaling pathways. These mutations are involved in autoinflammation, immune dysregulation, and eosinophilia (AIIDE).

**Synonyms:** - Activating JAK1 Mutation - Activating JTK3 Gene Mutation - Activating Janus Kinase 1 Gene Mutation - Gain of Function JAK1 Gene Mutation - Gain of Function JAK1 Mutation - JAK1 Activating Gene Mutation - JAK1 Activating Mutation - JAK1 GOF - JAK1 Gain of Function Gene Mutation - JAK1 Gain of Function Mutation