Autoinflammatory disease can result from monogenic errors of immunity. We describe a
patient with early-onset multi-organ immune dysregulation resulting from a mosaic, gain-of …

The discovery of the Janus kinase (JAK)-signal transducer and activator of transcripton
(STAT) signaling pathway, a landmark in cell biology, provided a simple mechanism for …

Since its discovery, the Janus kinase-signal transduction and activation of transcription (JAK-
STAT) pathway has become recognized as a central mediator of widespread and varied …

Background Disabling pansclerotic morphea (DPM) is a rare systemic inflammatory
disorder, characterized by poor wound healing, fibrosis, cytopenias …

Heterozygous mutations in JAK1 which result in JAK-STAT hyperactivity have been
implicated in an autosomal dominant disorder that features multi-organ immune …

Atopic dermatitis (AD) is a heterogeneous, chronic, relapsing, inflammatory skin disease
associated with considerable physical, psychological, and economic burden. Pathology of …

The four Janus kinase (JAK) proteins and seven signal transducer and activator of
transcription (STAT) transcription factors mediate intracellular signal transduction …

The Janus family kinases (Jaks), Jak1, Jak2, Jak3, and Tyk2, form one subgroup of the non‐
receptor protein tyrosine kinases. They are involved in cell growth, survival, development …

Several cytokines involved in inflammatory pathologies signal via the Janus kinase-signal
transducer and activator of transcription pathway. Four JAKs are known: JAK1, JAK2, JAK3 …

Tyk2 belongs to the Janus protein tyrosine kinase family and is involved in signaling of
immunoregulatory cytokines (type I and III IFNs, IL-6, IL-10, and IL-12 families) via its …