Interferons (IFN-A/-B/-G) Genetic Variants in Patients with Mixed Connective Tissue Disease (MCTD)

Vascular disease in mixed connective tissue disease (MCTD).

Sharp et al first described mixed connective tissue disease (MCTD)in 1972 as a distinct entity of connective tissue disease (1). MCTDis a disease entity characterized by overlap symptoms of systemic lupus erythematosus (SLE), systemic sclerosis (SSc) and polymyositis/dermatomyositis (PM/DM), as well as by the presence of antibody to U1RNRHowever, it has been suggested that rather than being reg...

Exercise limitation in juvenile onset Mixed Connective Tissue Disease (MCTD)

Results VO2peak was significantly lower in patients with MCTD compared to the VO2peak of healthy subjects (z-score -1.9, p = 0.008). The strength of the proximal muscles (hip flexors, shoulder abductors, knee extensors) of the patients was significantly lower than the controls, whereas the strength of the distal muscles (dorsal flexors of the foot and grip strength) was rather similar. No clini...

Taking a look inside: MRI of the wrist in pediatric mixed connective tissue disease (MCTD) patients

Tocilizumab for the treatment of refractory pediatric mixed connective tissue disease (MCTD), in two patients

Introduction Mixed Connective Tissue Disease (MCTD) is a rare autoimmune disease of unknown origin. The diagnosis is suggested when there are overlaping symptoms of lupus, scleroderma and dermatomyositis. Kasukawa criteria are the most commonly used in pediatrics. Treatment should be tailored to the clinical symptoms but no specific recommendation regarding the therapeutic management has been e...

B cell Therapy to Treat an Axonal Neuropathy in Mixed Connective Tissue Disease

The B cell is a vital contributor to humoral immunity. The B cell-specific antigen CD20 is expressed during B cell development, starting at the pre-B cell level and persists through B cell differentiation, but is lost during terminal differentiation to plasma cells. Rituximab is a monoclonal antibody that destroys both normal and malignant B cells that have CD20 on their surfaces and is ther...