Behçet Disease-Like Symptoms with a Novel COPA Mutation

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...

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Main Authors: E. Anderson, J. Hatch, J. Cardinal, D. Langguth, D. Coman
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2020/8414857
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author E. Anderson
J. Hatch
J. Cardinal
D. Langguth
D. Coman
author_facet E. Anderson
J. Hatch
J. Cardinal
D. Langguth
D. Coman
author_sort E. Anderson
collection DOAJ
description 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.
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institution Kabale University
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2090-6552
language English
publishDate 2020-01-01
publisher Wiley
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series Case Reports in Genetics
spelling doaj-art-5a74fe6d4a824399a0138c0f5446e77c2025-02-03T01:01:26ZengWileyCase Reports in Genetics2090-65442090-65522020-01-01202010.1155/2020/84148578414857Behçet Disease-Like Symptoms with a Novel COPA MutationE. Anderson0J. Hatch1J. Cardinal2D. Langguth3D. Coman4Virtus Diagnostics, Brisbane, AustraliaDepartment of Paediatrics, The Wesley Hospital, Brisbane, AustraliaCardinal Bioresearch, Brisbane, AustraliaDepartment of Immunology, Sullivan Nicolaides Pathology, Brisbane, AustraliaVirtus Diagnostics, Brisbane, AustraliaCOPA 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.http://dx.doi.org/10.1155/2020/8414857
spellingShingle E. Anderson
J. Hatch
J. Cardinal
D. Langguth
D. Coman
Behçet Disease-Like Symptoms with a Novel COPA Mutation
Case Reports in Genetics
title Behçet Disease-Like Symptoms with a Novel COPA Mutation
title_full Behçet Disease-Like Symptoms with a Novel COPA Mutation
title_fullStr Behçet Disease-Like Symptoms with a Novel COPA Mutation
title_full_unstemmed Behçet Disease-Like Symptoms with a Novel COPA Mutation
title_short Behçet Disease-Like Symptoms with a Novel COPA Mutation
title_sort behcet disease like symptoms with a novel copa mutation
url http://dx.doi.org/10.1155/2020/8414857
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AT dlangguth behcetdiseaselikesymptomswithanovelcopamutation
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