Results Among the 319 patients included (mean age: 48.0; SD 15.47), conducted over a mean period of 52 months (range: 19-394), 219 fulfilled the current APS classification criteria (PAPS diagnosed in 130 patients and APS associated autoimmune disease (aAPS) in 89 patients), and 100 patients with autoimmune disease without APS (AD).
The description of an uncommon case of type 2 APS with precocious presentation associated with an AIRE mutation in a very young girl could help to clarify the role of AIRE in the development of autoimmune diseases.
Moreover, our data imply that the allele DQA1*0301 is a marker of increased risk for further APS manifestations in patients who suffer from an organ-specific autoimmune disease.
In 13 study subjects, escalating doses of PSA mRNA-transfected DCs were administered with no evidence of dose-limiting toxicity or adverse effects, including autoimmunity.