Publications by authors named "Ema Lovsin"
Article Synopsis
- DNASE1L3 is an enzyme linked to the breakdown of chromatin from dying cells and is associated with lupus, but its role in interferon signaling in humans is not fully understood.
- In this study, researchers analyzed five new patients with rare DNASE1L3 mutations, finding that they exhibited a temporary increase in interferon-stimulated genes during disease activity.
- The findings underscore the severity of DNASE1L3 deficiencies, which often lead to conditions like lupus nephritis and other serious symptoms, with additional patients reviewed revealing a general trend of poor outcomes.
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is the most common autoinflammatory disease in children and is often grouped together with hereditary periodic fever syndromes, although its cause and hereditary nature remain unexplained. We investigated whether differential DNA methylation was present in DNA from peripheral blood mononuclear cells (PBMC) in patients with PFAPA vs. healthy controls.
View Article and Find Full Text PDF