Behçet Disease-Like Symptoms with a Novel COPA Mutation

Autor:	John Cardinal, J. Hatch, D. Langguth, E. Anderson, David Coman
Rok vydání:	2020
Předmět:	0303 health sciences Mutation business.industry Endoplasmic reticulum Arthritis General Medicine Disease QH426-470 Immune dysregulation medicine.disease medicine.disease_cause Phenotype 03 medical and health sciences 0302 clinical medicine Downregulation and upregulation Immunology Genetics Medicine business Gene 030217 neurology & neurosurgery 030304 developmental biology
Zdroj:	Case Reports in Genetics, Vol 2020 (2020)
ISSN:	2090-6552 2090-6544
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7197babbdf1db67b122b0e2d7d97c6c https://doi.org/10.1155/2020/8414857 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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