NIH R01 · 2025
Abstract Disabling pansclerotic morphea (DPM) is a severe, systemic disorder of childhood with debilitating skin, joint, and mucosal symptoms, immune dysregulation and malignancy. DPM is known to be severely recalcitrant to therapy, leading to death within 10 years of diagnosis. Our investigation of the specific contribution of STAT4 to the immunodysregulatory phenotype seen in DPM patients revealed the following key observations: 1) The STAT4 variant is a gain-of-function mutation that leads to impaired wound healing; 2) STAT4 variation leads to an enhanced immunodysregulatory phenotype; 3) persistent phosphorylation of STAT4 results in IL-6 mediated autoinflammation; 4) JAK inhibition…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.