Molecular Mechanisms Characteristics in Systemic Lupus Erythematous Autoimmune Disease

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.