Study of TREX1 Gene Mutations Linked to Skin Symptoms in Systemic Lupus Erythematosus Exploring Genetic and Autoantibody Connections in Lupus Patients

What this Trial Is About

Systemic lupus erythematosus SLE is an autoimmune disease affecting multiple body systems, with skin involvement being one of the earliest and most common features. This research evaluates the role of TREX1 gene mutations and certain autoantibodies in SLE, especially how these genetic factors relate to skin symptoms and disease activity. The study focuses on understanding these connections in Egyptian patients to improve early diagnosis and personalized treatment. The study involves about 60 patients diagnosed with SLE who have at least one skin manifestation, compared with 30 healthy volunteers matched by age and sex. Researchers will assess selected autoantibodies and TREX1 gene polymorphisms to explore their prevalence and connection to clinical features. This is an observational study without treatment interventions. Participants will provide informed consent and undergo genetic testing and autoantibody assessments. Researchers will monitor disease activity and gene polymorphisms over a 3-month period. The study aims to correlate genetic and antibody findings with disease symptoms and activity to better understand SLEs impact on the skin and overall health.

" TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus