{"id":"W4232515481","doi":"10.1016/j.jaci.2008.12.064","title":"Omenn Syndrome is Associated with Mutations in DNA Ligase IV","year":2009,"lang":"en","type":"article","venue":"Journal of Allergy and Clinical Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":12,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"T-cell receptor; Severe combined immunodeficiency; Immunology; Biology; T cell; DNA ligase; Hepatosplenomegaly; Medicine; Immune system; Molecular biology; Internal medicine; Gene; Genetics","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":[0.0007781863,0.0002011032,0.0007029177,0.0002395945,0.0001610614,0.00001604306,0.0002992184,0.000495062,0.000322438],"category_scores_gemma":[0.0003668506,0.0001556133,0.0001837923,0.0002723807,0.0005804538,0.0001989902,0.00003895233,0.001056691,0.00004910297],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003280094,"about_ca_system_score_gemma":0.0001480115,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001838974,"about_ca_topic_score_gemma":0.00002174556,"domain_scores_codex":[0.9977497,0.0003922633,0.001179065,0.0002238379,0.00005315839,0.0004019752],"domain_scores_gemma":[0.9985285,0.0004694274,0.0006347394,0.0001974429,0.0001533221,0.00001655752],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.02831832,0.04834818,0.04935151,0.00004836523,0.053326,0.008207232,0.02150275,0.0004736773,0.2430277,0.02471964,0.004880856,0.5177957],"study_design_scores_gemma":[0.01246084,0.008849324,0.9565398,0.000290896,0.0001746328,0.002502131,0.001749114,0.00001181759,0.00100996,0.003561703,0.01241475,0.0004350579],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9795672,0.01693635,0.00002814295,0.002292266,0.0005067136,0.00008319976,0.000004312315,0.00001706041,0.0005647162],"genre_scores_gemma":[0.9959285,0.00240371,0.00002159451,0.0009115405,0.000004476352,0.000001648411,0.00001650352,0.00000990408,0.0007021573],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9071882,"threshold_uncertainty_score":0.6345726,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0137398056616712,"score_gpt":0.2765432608491425,"score_spread":0.2628034551874713,"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."}}