TNFα-308A allele in juvenile dermatomyositis: Association with increased production of tumor necrosis factor α, disease duration, and pathologic calcifications

Abstract

A long course of juvenile DM and the presence of pathologic calcifications were associated with the TNFalpha-308A allele and with the increased production of TNFalpha, which may perpetuate the inflammatory response.

Pilot Study of Etanercept in Patients With Refractory Juvenile Dermatomyositis

“…Specifically in juvenile DM, tumor necrosis factor ␣ (TNF␣) was expressed in the muscle fibers of children with untreated disease (2). The finding that the TNF␣-308A polymorphism was associated with dystrophic calcifications (3) was the impetus for this study.…”

Apoptosis in the skeletal muscle of untreated children with juvenile dermatomyositis: Impact of duration of untreated disease

“…Conversely, the muscle symptoms, evaluated by DAS weakness, are inversely correlated with duration of untreated disease [10]. Disease chronicity is associated with the presence of the TNF-α 308 A allele and the related increased production of TNF-α by the peripheral blood mononuclear cells [11] and the muscle fibers themselves [12]. Laboratory indices of muscle inflammation are also impacted by the duration of untreated disease.…”

Disappearance of diffuse calcinosis following autologous stem cell transplantation in a child with autoimmune disease

“…7 Calcinosis has also been more frequently associated with the TNF-a-308A promoter polymorphism, which is associated with increased TNF-a production by peripheral blood mononuclear cells. 8 Recent reports suggest that the early initiation of intensive anti-inflammatory therapy for JDM may be effective in preventing the future development of calcinosis. 6,9 Calcinosis is associated with a variable natural history, and spontaneous regression either through reabsorption or extrusion of the material may occur.…”