Imaging findings of Copa syndrome in a 12-year-old boy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Radiology Nuclear Medicine and imaging,Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/article/10.1007/s00247-017-3961-3/fulltext.html
Reference8 articles.
1. Picard C, Al-Herz W, Bousfiha A et al (2015) Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for primary immunodeficiency 2015. J Clin Immunol 35:696–726
2. Vece TJ, Watkin LB, Nicholas SK et al (2016) Copa syndrome: a novel autosomal dominant immune dysregulatory disease. J Clin Immunol 36:377–387
3. de Jesus AA, Goldbach-Mansky R (2015) Newly recognized Mendelian disorders with rheumatic manifestations. Curr Opin Rheumatol 27:511–519
4. Watkin LB, Jessen B, Wiszniewski W et al (2015) COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet 47:654–660
5. Popoff V, Adolf F, Brügger B et al (2011) COPI budding within the Golgi stack. Cold Spring Harb Perspect Biol 3:a005231
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