{"id":"W7117891458","doi":"10.70962/jhi.20250112","title":"Immune dysregulation from a novel CTLA-4 haploinsufficiency variant","year":2025,"lang":"en","type":"article","venue":"Journal of Human Immunity","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Infection and Immunity","funders":"National Institute of Allergy and Infectious Diseases; Yale University; Wellcome","keywords":"Haploinsufficiency; Immune dysregulation; Immune system; Jurkat cells; Cytotoxic T cell; T cell; Autoimmunity; Antigen; Receptor","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009707112,0.0002412306,0.000552494,0.0004207019,0.0008456175,0.0000548462,0.000835284,0.0002525297,0.0006962218],"category_scores_gemma":[0.0002337801,0.0002116181,0.0003271119,0.0004018936,0.0003387579,0.0003028534,0.0001724955,0.0009548764,0.00006904526],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009938432,"about_ca_system_score_gemma":0.0002334345,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007705815,"about_ca_topic_score_gemma":0.00000637084,"domain_scores_codex":[0.9979566,0.000278765,0.001144352,0.0001746354,0.0000907216,0.0003548811],"domain_scores_gemma":[0.9981785,0.0002089032,0.0007373984,0.0005422626,0.000324267,0.000008685599],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000183881,0.001171431,0.0002175852,0.00001279752,0.0003409223,0.000006318831,0.00132016,0.00008127606,0.9856881,0.00524513,0.0002196029,0.005512824],"study_design_scores_gemma":[0.01636253,0.001504699,0.5552298,0.001124951,0.0007677975,0.0003500137,0.006945829,0.0001060895,0.3596373,0.01041816,0.04647231,0.00108044],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9619802,0.02643004,0.003596148,0.0002692474,0.001848091,0.0001422821,0.00001786344,0.0000407914,0.005675392],"genre_scores_gemma":[0.9978181,0.00007691448,0.00009164744,0.000130567,0.00001046522,0.000002851898,0.00006385463,0.00001420679,0.001791445],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6260507,"threshold_uncertainty_score":0.8629534,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01180662620307403,"score_gpt":0.2529300421138597,"score_spread":0.2411234159107856,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}