COPA syndrome caused by a novel p.Arg227Cys COPA gene variant
Yue Zheng,
Yue Du,
Yubin Wu
et al.
Abstract:BackgroundCOPA syndrome is a recently described and rare monogenic autosomal dominant disease caused by heterozygous missense mutations in the Coatomer Protein Subunit alpha (COPA) gene that encodes the alpha subunit of coat protein complex I (COPI). Its main clinical manifestations are inflammatory lung disease, arthritis, and renal disease. The development of inflammation in COPA syndrome maybe due to abnormal autophagic response and abnormal activation of type I interferon pathway. To date, 59 cases of COPA… Show more
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