Systemic Lupus Erythematosus
Conditions
Brief summary
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by diverse clinical manifestations, prominently involving the skin.
Detailed description
Cutaneous lesions are among the earliest and most frequent features of SLE, with over 70% of patients developing mucocutaneous involvement during their disease course. The presence and severity of cutaneous manifestations have been associated with specific autoantibodies, such as anti-Ro/SSA and anti-dsDNA, which may reflect underlying genetic susceptibility. Recent studies have also implicated gene polymorphisms in IRF5, STAT4, TREX1, and TNFA in the pathogenesis of cutaneous SLE phenotypes. Defective TREX1 exonuclease activity, leading to intracellular accumulation of DNA, may trigger type I interferon activation-a key mechanism in lupus pathophysiology. Despite the extensive global literature, data from Egyptian patients remain limited, especially regarding the relationship between TREX1 gene variants and cutaneous lupus phenotypes. Understanding how autoantibody profiles and gene polymorphisms relate to clinical features and disease activity could enhance early diagnosis, predict flares, and improve personalized therapy.
Interventions
DIAGNOSTIC_TESTTREX1 gene polymorphisms
To assess the prevalence of selected autoantibodies as (anti-dsDNA, anti-Sm, anti-Ro/SSA, anti-La/SSB) and TREX1 gene polymorphisms in SLE patients, and their association with clinical features and disease activity
Sponsors
South Valley University
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 60 Years
Healthy volunteers
Yes
Inclusion criteria
* Adult aged 18-60 years * Diagnosed as SLE per 2019 EULAR/ACR classification criteria. * Presence of at least one cutaneous manifestation (acute, subacute, or chronic). * Willing to provide written informed consent for participation and genetic testing
Exclusion criteria
* Overlap autoimmune syndromes (e.g., dermatomyositis, systemic sclerosis). * Systemic infection, malignancy, or pregnancy. * Use of biologic therapy or immunosuppressive pulses within one month.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Systemic Lupus Erythematosus Assessment | 3 Months | Assessment of disease activity in Systemic Lupus Erythematosus (SLE) using Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K). SLEDAI-2K as follows : 1-5 is Mild disease activity 6-10 is Moderate disease activity 11 or more is Severe disease activity |
| TREX1 gene polymorphism and SLE | 3 Months | Assessment the association between TREX1 gene polymorphism and systemic lupus erythematosus susceptibility |
Countries
Egypt
Contacts
CONTACTAmira Rabea AbuElfadl, MSc
CONTACTSoheir Abdel-hamid Ali, Lecturer
STUDY_CHAIREisa Mohammed Hegazy, Professor
Dermatology, Venereology and Andrology. Faculty of Medicine,Qena University
STUDY_DIRECTORMohammed Hosny Hassan, Professor
Biochemistry ,Qena faculty of medicine ,south valley university
Outcome results
None listed