Landscape of somatic mutations in a large cohort of Chinese patients with immune dysregulations - PubMed
4 days ago
- #genetic diagnosis
- #somatic mutations
- #immune dysregulation
- Study aims to characterize pathogenic somatic mutations in Chinese patients with autoinflammatory or autoimmune diseases lacking germline mutations.
- Systematic analysis of somatic mutations in 185 immune-related genes in 2912 patients from 41 medical centers across China.
- Identified previously reported and novel somatic mutations in genes like UBA1, KRAS, and NLRP3.
- First discovery of pathogenic somatic mutations in TNFAIP3 in patients with autoinflammatory diseases.
- Pathogenic somatic mutations detection rate was 1.35% in adults and 0.97% in children.
- Identified somatic mutations in Ras-related genes in seven patients and 39 clonal hematopoiesis-associated mutations in 36 adult patients.
- Myeloid cells with somatic mutations expanded during disease flare and reduced during remission.
- Dynamic elevation of variant allele fraction during disease progression impacts therapeutic outcomes.
- Study provides insights for genetic diagnosis and targeted therapies in autoinflammatory and autoimmune diseases.