The STING HAQ haplotype and clinical non-penetrance in COPA syndrome - PubMed
2 days ago
- #clinical non-penetrance
- #COPA syndrome
- #STING HAQ haplotype
- COPA syndrome is a rare monogenic autoinflammatory disease caused by heterozygous mutations in the COPA gene.
- The syndrome shares phenotypic similarities with STING-associated vasculopathy with onset in infancy (SAVI), which is due to gain-of-function mutations in STING1.
- STING activation plays a key role in the pathogenesis of COPA syndrome.
- A recent report suggested that the common HAQ STING allele might provide complete protection against clinical disease in individuals with COPA mutations.
- A study investigated the STING HAQ haplotype status in a separate cohort of individuals with COPA mutations and found asymptomatic HAQ-negative individuals and an HAQ-positive individual with kidney disease.
- The findings challenge the idea that STING haplotype status alone determines clinical penetrance in COPA syndrome.