{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nath PR"],"funding":["Intramural NIH HHS"],"pagination":["6443"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11291632"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(1)"],"pubmed_abstract":["Birdshot chorioretinopathy is an inflammatory eye condition strongly associated with MHC-I allele HLA-A29. The striking association with MHC-I suggests involvement of T cells, whereas natural killer (NK) cell involvement remains largely unstudied. Here we show that HLA-A29-positive birdshot chorioretinopathy patients have a skewed NK cell pool containing expanded CD16 positive NK cells which produce more proinflammatory cytokines. These NK cells contain populations that express CD8A which is involved in MHC-I recognition on target cells, display gene signatures indicative of high cytotoxic activity (GZMB, PRF1 and ISG15), and signaling through NK cell receptor CD244 (SH2D1B). Long-term monitoring of a cohort of birdshot chorioretinopathy patients with active disease identifies a population"],"journal":["Nature communications"],"pubmed_title":["Single-cell profiling identifies a CD8<sup>bright</sup> CD244<sup>bright</sup> Natural Killer cell subset that reflects disease activity in HLA-A29-positive birdshot chorioretinopathy."],"pmcid":["PMC11291632"],"funding_grant_id":["ZIA EY000556"],"pubmed_authors":["Young A","Nath PR","Schmidt B","Sen HN","Lee JW","Yakin M","Caspi RR","Nadali H","Kaya KD","Kodati S","Maclean M","Kuiper JJW","Nagarajan V","Kumar A"],"additional_accession":[]},"is_claimable":false,"name":"Single-cell profiling identifies a CD8<sup>bright</sup> CD244<sup>bright</sup> Natural Killer cell subset that reflects disease activity in HLA-A29-positive birdshot chorioretinopathy.","description":"Birdshot chorioretinopathy is an inflammatory eye condition strongly associated with MHC-I allele HLA-A29. The striking association with MHC-I suggests involvement of T cells, whereas natural killer (NK) cell involvement remains largely unstudied. Here we show that HLA-A29-positive birdshot chorioretinopathy patients have a skewed NK cell pool containing expanded CD16 positive NK cells which produce more proinflammatory cytokines. These NK cells contain populations that express CD8A which is involved in MHC-I recognition on target cells, display gene signatures indicative of high cytotoxic activity (GZMB, PRF1 and ISG15), and signaling through NK cell receptor CD244 (SH2D1B). Long-term monitoring of a cohort of birdshot chorioretinopathy patients with active disease identifies a population","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2025-04-26T03:07:46.113Z","creation":"2025-04-06T10:40:58.305Z"},"accession":"S-EPMC11291632","cross_references":{"pubmed":["39085199"],"doi":["10.1038/s41467-024-50472-0"]}}