Molecular Mechanisms Characteristics in Systemic Lupus Erythematous Autoimmune Disease

Overview

It is well known that the deregulation of immune responses plays a major role in many autoimmune diseases, such as Systemic Lupus Erythematosus (SLE). The main objective of this protocol is to determine whether the expression and/or function of specific molecules are deregulated in the immune cells of patients with SLE. By examining IRF4, IRF5, IBP/Def6, SWAP-70, Rock1, Rock2, and specific signaling molecules involved in the responsiveness to sex hormones, the investigators hypothesize that the deregulation in the expression and function of these molecules will result in abnormalities in the functioning of the immune cells, which is a key factor in autoimmunity. Peripheral blood lymphocytes from healthy controls and patients with SLE will be collected and compared in order to determine if specific immune cells (IL-17 and IL-21) are deregulated in patients with SLE and if this deregulation affects their functioning. Specifically, immune cells will be isolated from the blood and then subject to scientific testing (QPCR, Western blotting, immunofluorescence assays, ELISA and FACS analysis) to see if the expression and function of these cells is related to the mechanism behind SLE. This will be a case control study, where cases of SLE will be compared to controls of healthy volunteers to assess risk factors. As these healthy volunteers are providing samples solely for research purposes, there is no standard of care for these volunteers, with the exception of a positive HIV result during screening. The Department of Genetic Medicine will enroll healthy controls and the Hospital for Special Surgery will enroll subjects with Systemic Lupus Erythematosus (SLE) for a comparative analysis of the two cohorts. Laboratory testing on all blood samples will be done at the Hospital for Special Surgery.

This will be a case control study, where cases of SLE will be compared to controls of healthy volunteers to assess risk factors. As these healthy volunteers are providing samples solely for research purposes, there is no standard of care for these volunteers, with the exception of a positive HIV result during screening. The Department of Genetic Medicine will enroll healthy controls and the Hospital for Special Surgery will enroll subjects with Systemic Lupus Erythematosus (SLE) for a comparative analysis of the two cohorts (Table I). Laboratory testing on all blood samples will be done at the Hospital for Special Surgery. Table I. Site Recruitment1 WCMC Healthy Subjects 20 HSS Subjects with SLE 20 Total 40