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

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 …

Inborn errors of immunity lead to autoimmunity, inflammation, allergy, infection, and/or
malignancy. Disease-causing JAK1 gain-of-function (GoF) mutations are considered …

Janus kinases (Jaks) are a family of nonreceptor tyrosine kinase that include four different
members, viz., Jak1, Jak2, Jak3, and Tyk2. Jaks play critical roles in immune cells functions; …

Background Gain-of-function variants of JAK1 drive a rare immune dysregulation syndrome
associated with atopic dermatitis, allergy, and eosinophilia. Objectives This study sought to …

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

Within the Munich, Germany, N-ethyl-N-nitrosourea mouse mutagenesis program, we
isolated a dominant Jak1 mouse model resembling phenotypic characteristics related to …

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

Obesity, a worldwide epidemic, is a major risk factor for the development of metabolic
syndrome (MetS) including diabetes and associated health complications. Recent studies …

JAK2 genetic variants are associated with inflammatory bowel disease (IBD) and JAK
inhibitors are being evaluated for therapy targeting immune-mediated diseases, including …