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

• Egile Nagusiak: Xiao Li (Egilea), Yu Tang (Egilea), Lei Zhang (Egilea), Yuan Wang (Egilea), Weihua Zhang (Egilea), Ying Wang (Egilea), Yuelin Shen (Egilea), Xiaolei Tang (Egilea)
• Formatua: Liburua
• Argitaratua: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...