DC Field | Value | Language |
---|---|---|
dc.contributor.author | Bainter, Wayne | - |
dc.contributor.author | Platt, Craig D. | - |
dc.contributor.author | Park, Seung-Yeol | - |
dc.contributor.author | Stafstrom, Kelsey | - |
dc.contributor.author | Wallace, Jacqueline G. | - |
dc.contributor.author | Peters, Zachary T. | - |
dc.contributor.author | Massaad, Michel J. | - |
dc.contributor.author | Becuwe, Michel | - |
dc.contributor.author | Salinas, Sandra Andrea | - |
dc.contributor.author | Jones, Jennifer | - |
dc.contributor.author | Beaussant-Cohen, Sarah | - |
dc.contributor.author | Jaber, Faris | - |
dc.contributor.author | Yang, Jia-Shu | - |
dc.contributor.author | Walther, Tobias C. | - |
dc.contributor.author | Orange, Jordan S. | - |
dc.contributor.author | Rao, Chitong | - |
dc.contributor.author | Rakoff-Nahoum, Seth | - |
dc.contributor.author | Tsokos, Maria | - |
dc.contributor.author | Naseem, Shafiq Ur Rehman | - |
dc.contributor.author | Al-Tamemi, Salem | - |
dc.contributor.author | Chou, Janet | - |
dc.contributor.author | Hsu, Victor W. | - |
dc.contributor.author | Geha, Raif S. | - |
dc.date.accessioned | 2021-06-01T02:09:18Z | - |
dc.date.available | 2021-06-01T02:09:18Z | - |
dc.date.created | 2021-02-24 | - |
dc.date.issued | 2021-02 | - |
dc.identifier.issn | 0021-9738 | - |
dc.identifier.uri | https://oasis.postech.ac.kr/handle/2014.oak/105191 | - |
dc.description.abstract | The coat protein I (COPI) complex mediates retrograde trafficking from the Golgi to the endoplasmic reticulum (ER). Five siblings with persistent bacterial and viral infections and defective humoral and cellular immunity had a homozygous p.K652E mutation in the γ1 subunit of COPI (γ1-COP). The mutation disrupts COPI binding to the KDEL receptor and impairs the retrieval of KDEL-bearing chaperones from the Golgi to the ER. Homozygous Copg1K652E mice had increased ER stress in activated T and B cells, poor antibody responses, and normal numbers of T cells that proliferated normally, but underwent increased apoptosis upon activation. Exposure of the mutants to pet store mice caused weight loss, lymphopenia, and defective T cell proliferation that recapitulated the findings in the patients. The ER stress-relieving agent tauroursodeoxycholic acid corrected the immune defects of the mutants and reversed the phenotype they acquired following exposure to pet store mice. This study establishes the role of γ1-COP in the ER retrieval of KDEL-bearing chaperones and thereby the importance of ER homeostasis in adaptive immunity. | - |
dc.language | English | - |
dc.publisher | American Society for Clinical Investigation | - |
dc.relation.isPartOf | Journal of Clinical Investigation | - |
dc.title | Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex | - |
dc.type | Article | - |
dc.identifier.doi | 10.1172/JCI140494 | - |
dc.type.rims | ART | - |
dc.identifier.bibliographicCitation | Journal of Clinical Investigation, v.131, no.3 | - |
dc.identifier.wosid | 000620172300001 | - |
dc.citation.number | 3 | - |
dc.citation.title | Journal of Clinical Investigation | - |
dc.citation.volume | 131 | - |
dc.contributor.affiliatedAuthor | Park, Seung-Yeol | - |
dc.identifier.scopusid | 2-s2.0-85100372155 | - |
dc.description.journalClass | 1 | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | N | - |
dc.type.docType | Article | - |
dc.relation.journalWebOfScienceCategory | Medicine, Research & Experimental | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
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