Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases - PubMed
21 hours ago
- #Exome Sequencing
- #Monogenic Lupus
- #Juvenile SLE
- Exome sequencing provided a molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus (SLE) cases.
- Pathogenic variants were found in genes linked to monogenic lupus, immunodeficiency, and autoinflammatory disorders, including novel candidates.
- Higher diagnostic yield (nearly 33%) was associated with syndromic features and very early-onset (before age 5).
- The study supports systematic genetic testing, like exome sequencing, for juvenile lupus, especially in early-onset or syndromic cases.