Rheumatology | Research

The Division of Rheumatology has been internationally recognized for investigations into the etiology of a variety of rheumatologic diseases of childhood. The Division was the first to identify the genetic causes of several diseases of childhood that cause autoimmune disorders including the initial characterization of the gene causing immunodysregulation polyendocrinopathy enteropathy x-linked syndrome (known as IPEX syndrome) caused by mutations in the FOXP3 gene, defects in CD25 causing an IPEX-like syndrome, and defects in STAT3 associated with STAT3 gain-of-function syndrome. Current efforts are focused on elucidating the genes and immune system abnormalities that cause pediatric rheumatologic disease, with an emphasis on juvenile idiopathic arthritis (JIA), juvenile dermatomyositis (JDMS), and primary immunodeficiencies. Clinical studies from the division have previously highlighted the utility of new therapies for pediatric rheumatologic disease, including 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 are currently focused on our involvement as a research center for the Childhood Arthritis Rheumatology Research Alliance.

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