Behçet Disease-Like Symptoms with a Novel COPA Mutation. (11th January 2020)

• Record Type: Journal Article
• Authors: Anderson, E.; Hatch, J.; Cardinal, J.; Langguth, D.; Coman, D.
• Other Names: Yapijakis Christos Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2020(2020)
• Publication Date: 2020-01-11
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2020/8414857
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : COPA syndrome is a recently described autosomal dominant disorder with key immune dysregulation caused by defects within the COPA gene. These mutations lead to endoplasmic reticulum stress and autoimmune response with upregulation of Th17 cytokines. The clinical phenotype of COPA syndrome primarily comprised pulmonary disease, arthritis, and renal disease secondary to immune dysregulation, with onset of symptoms commonly in the first decade of life. Herein, we describe a family with an attenuated Behçet-like phenotype of COPA syndrome, further expanding the phenotypic understanding of this syndrome.