Behçet Disease-Like Symptoms with a Novel COPA Mutation
Joint Authors
Coman, D.
Cardinal, J.
Anderson, E.
Hatch, J.
Langguth, D.
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-01-11
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Anderson, E.& Hatch, J.& Cardinal, J.& Langguth, D.& Coman, D.. 2020. Behçet Disease-Like Symptoms with a Novel COPA Mutation. Case Reports in Genetics،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1147265
Modern Language Association (MLA)
Anderson, E.…[et al.]. Behçet Disease-Like Symptoms with a Novel COPA Mutation. Case Reports in Genetics No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1147265
American Medical Association (AMA)
Anderson, E.& Hatch, J.& Cardinal, J.& Langguth, D.& Coman, D.. Behçet Disease-Like Symptoms with a Novel COPA Mutation. Case Reports in Genetics. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1147265
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147265