" TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: TREX1 gene polymorphisms.
- Who it may be relevant to
- Registry conditions: Systemic Lupus Erythematosus. Basic parameters: 18 years — 60 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Egypt
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
TREX1 Gene Mutations and Their Role in Systemic Lupus Erythematosus: A Genotype-Phenotype Correlation Study
Overview
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 test TREX1 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
Primary outcome measures
- Systemic Lupus Erythematosus Assessment [Time frame: 3 Months]
- TREX1 gene polymorphism and SLE [Time frame: 3 Months]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
Egypt · 1 center
- Qina University hospital, South Valley University Hospital — Qina
Identifiers
NCT: NCT07397728 · TREX1 Gene