Monogenic Lupus Study
Summary
Very little is known about the role of genetics in the pathogenesis of systemic lupus erythematosus (SLE). SLE is a life-threatening, chronic, autoimmune disease where the immune system attacks healthy tissues of the body, affecting the joints, skin, kidneys, blood cells, heart, and lungs. We are interested in enrolling children who are suspected to have monogenic lupus and their families to determine if certain genes are responsible for this disease. To investigate this, demographic and laboratory diagnostic imaging are collected during routine visits. In addition, blood or saliva samples will be obtained and DNA sequencing will identify the genes that may be associated with lupus.
Eligibility
Eligible gender: Male, Female, Transgender, Other
Inclusion criteria:
1) Children with young-onset (<10y) SLE and
2) Families with multiple affected members with SLE.
3) Able to read, write, and speak English.
Exclusion criteria:
Individuals and families who are not suspected to have a monogenic lupus.
Participate
Additional information
Contact information
Recruitment for this study is only through referral.
Principal investigator:
Marinka Twilt
Clinical trial:
No
REB-ID:
REB18-1299