Rheumatology | Research
The Division of Rheumatology has been internationally recognized for investigations into the pathogenesis of a variety of rheumatologic diseases of childhood. The Division produced the first reports of a mutation in children with Hyper-IgE syndrome, the initial characterization of FOXP3 (also known as JM2) in X-linked autoimmunity-allergic dysregulation syndrome (also known as IPEX), and a mutation in CD25 causing an IPEX-like syndrome. Current efforts are focused on elucidating the molecular basis of pediatric rheumatologic disease with particular emphasis on the putative role of NK cells in the onset of systemic juvenile rheumatoid arthritis (JRA) and juvenile dermatomyositis (JDMS). Clinical studies from the division have previously highlighted the utility of anakinra (IL-1 receptor agonist) in treating systemic JRA and the potential use of rituximab (anti-CD20 reagent used to deplete peripheral B cells) in refractory JDMS patients. Clinical investigation within the division continues to focus on the evaluation of novel therapeutic approaches to the treatment of refractory JRA, JDMS, and SLE.