Uncovers novel mutation in COPA gene causing autoinflammatory syndrome in adults, highlighting genetic implications.
COPA syndrome is a rare genetic disorder of vesicle trafficking that typically affects lungs, joints, and kidneys in infants, though rare adult cases exist. Pathogenic variants are usually missense mutations in the N-terminal WD40 domain of the COPA gene, but other regions may also be implicated in autoinflammatory phenotypes.
No takes yet. Share an insight, caveat, or question.
García-Escudero et al. (2026) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: