Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder

• Main Authors: Xiao Li (Author), Yu Tang (Author), Lei Zhang (Author), Yuan Wang (Author), Weihua Zhang (Author), Ying Wang (Author), Yuelin Shen (Author), Xiaolei Tang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

This report describes a case of a 22 months Chinese boy with COPA syndrome bearing the c.715G > C (p.A239P) genotype. In addition to interstitial lung diseae, he also suffered from recurrent chilblain-like rashes, which has not been previously reported, and neuromyelitis optica spectrum disorder...