E. Anderson, J. Hatch, J. Cardinal, D. Langguth, D. Coman
{"title":"一种新的COPA突变引起的精神疾病样症状","authors":"E. Anderson, J. Hatch, J. Cardinal, D. Langguth, D. Coman","doi":"10.1155/2020/8414857","DOIUrl":null,"url":null,"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 Behcet-like phenotype of COPA syndrome, further expanding the phenotypic understanding of this syndrome.","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"56 1","pages":"1-4"},"PeriodicalIF":0.0000,"publicationDate":"2020-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Behçet Disease-Like Symptoms with a Novel COPA Mutation\",\"authors\":\"E. Anderson, J. Hatch, J. Cardinal, D. Langguth, D. Coman\",\"doi\":\"10.1155/2020/8414857\",\"DOIUrl\":null,\"url\":null,\"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 Behcet-like phenotype of COPA syndrome, further expanding the phenotypic understanding of this syndrome.\",\"PeriodicalId\":30325,\"journal\":{\"name\":\"Case Reports in Genetics\",\"volume\":\"56 1\",\"pages\":\"1-4\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-01-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2020/8414857\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2020/8414857","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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 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 Behcet-like phenotype of COPA syndrome, further expanding the phenotypic understanding of this syndrome.