Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome
Author:
Funder
Fondation pour la Recherche Médicale
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10875-024-01717-6.pdf
Reference5 articles.
1. Crow YJ, Stetson DB. The type I interferonopathies: 10 years on. Nat Rev Immunol. 2021. https://doi.org/10.1038/s41577-021-00633-9.
2. Delafontaine S, et al. Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome. J Clin Invest. 2024;134:e163604.
3. Watkin LB, et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015;47:654–60.
4. Lepelley A et al. Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling. J Exp Med 217, (2020).
5. Guan Y, et al. Effective sirolimus treatment of 2 COPA syndrome patients. J Allergy Clin Immunol Pract. 2021;9:999–e10011.
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