{"id":"W4280646605","doi":"10.14785/lymphosign-2022-0004","title":"CTLA4 haploinsufficiency caused by a novel heterozygous splice site mutation","year":2022,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Haploinsufficiency; Immune dysregulation; Autoimmunity; Immunology; Exome sequencing; Compound heterozygosity; Autoimmune lymphoproliferative syndrome; Immune system; Proband; Common variable immunodeficiency; Medicine; Mutation; Biology; Genetics; Phenotype; Antibody; Gene; Fas receptor","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["sts","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0005870223,0.000238394,0.0002666836,0.00019182,0.002033422,0.00005034111,0.000492417,0.0001072501,0.00167398],"category_scores_gemma":[0.0000420224,0.0002354502,0.0001832179,0.0003673655,0.0001445534,0.0001951044,0.0001389139,0.0006428314,0.0002789592],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002313225,"about_ca_system_score_gemma":0.0001998241,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000182303,"about_ca_topic_score_gemma":0.000001258364,"domain_scores_codex":[0.9981974,0.0002183509,0.0005106591,0.0003107714,0.0001423271,0.0006204635],"domain_scores_gemma":[0.9992408,0.00007903128,0.0003371892,0.0002545215,0.00007074332,0.00001769528],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001610085,0.0009187514,0.0001284246,0.000005670567,0.0001044024,0.0000390593,0.004914554,0.001073356,0.9732199,0.0001398903,0.005893579,0.01340135],"study_design_scores_gemma":[0.0257314,0.003691323,0.00485525,0.00007992479,0.0002963804,0.0250376,0.01885952,0.00188433,0.07432885,0.0005523982,0.8424822,0.002200794],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9229828,0.05570348,0.01724329,0.0004226309,0.002312289,0.0002452132,0.0001173871,0.0001208358,0.0008520401],"genre_scores_gemma":[0.9969472,0.0001017426,0.00003261232,0.0008712832,0.000009295029,0.0000366974,0.0001547418,0.000032314,0.001814097],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8988911,"threshold_uncertainty_score":0.9992658,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007523260120353482,"score_gpt":0.2067095137105842,"score_spread":0.1991862535902307,"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."}}