ArticleThe Journal of clinical investigation2021
Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.
Article in The Journal of clinical investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- COPI Coatomer Regulates Several Steps of HDL Metabolism.Arteriosclerosis, thrombosis, and vascular biology · 2026Article
- Distinct roles of COPI proteins attenuated in cell senescence.Science advances · 2026Article
- The COPI coatomer influences LDL receptor activity, hepatic lipid storage, and apoB secretion.bioRxiv : the preprint server for biology · 2026Article
- Expanding the clinical and immunological phenotypes of COPB1 deficiency.Frontiers in immunology · 2026Article
- Coatomer protein complex I is required for efficient secretion of dengue virus non-structural protein 1.Journal of virology · 2025Article
- Conditional knockout mouse model demonstrates that Copa expression is required for viability in development and adulthood.Biochemical and biophysical research communications · 2025Article
- Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.Nature communications · 2024Article
- Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.The Journal of clinical investigation · 2024Article
- Control of immune cell function by the unfolded protein response.Nature reviews. Immunology · 2023Review
- The proteomic landscape of soft tissue sarcomas.Nature communications · 2023Article
- Immune dysregulation caused by homozygous mutations in CBLB.The Journal of clinical investigation · 2022Article
- Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.Journal of clinical immunology · 2022Article
- Mutations ofInternational journal of molecular sciences · 2022Article
- KDEL Receptors: Pathophysiological Functions, Therapeutic Options, and Biotechnological Opportunities.Biomedicines · 2022Review
- Deficiency in coatomer complex I causes aberrant activation of STING signalling.Nature communications · 2022Article
- Shared and specific functions of Arfs 1-5 at the Golgi revealed by systematic knockouts.The Journal of cell biology · 2022Article
- Dysregulation of the cGAS-STING Pathway in Monogenic Autoinflammation and Lupus.Frontiers in immunology · 2022Review
Corrections and comments
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Authors and funding
23 authors at 7 institutions in 3 countries.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.