{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002027935,0.002500031,0.001009103,0.002178822,0.0008206989,0.0006133819,0.0008391576,0.002491734,0.00337598],"category_scores_gemma":[0.001555974,0.0005163446,0.0006482293,0.001143906,0.001250903,0.0005031953,0.001053151,0.000858631,0.0004232619],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005481939,"about_ca_system_score_gemma":0.0003783332,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001880859,"about_ca_topic_score_gemma":0.002177065,"domain_scores_codex":[0.9995506,0.00005731151,0.00005692584,0.0001158787,0.0001029288,0.0001162244],"domain_scores_gemma":[0.9986947,0.0004694184,0.0004834892,0.0000487549,0.0000397875,0.0002638945],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0009406155,0.00006525947,0.03014066,0.0001691116,0.0001957936,0.8858808,0.0002462127,0.0002861354,0.0750358,0.001186416,0.0005970213,0.00525623],"study_design_scores_gemma":[0.0001559651,0.0002081612,0.08721584,0.00006325649,0.0003290037,0.8979551,0.0002081329,0.0009516862,0.009471662,0.0008062622,0.00257526,0.00005970948],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9907413,0.001567761,0.001197116,0.000618982,0.0001476169,0.00003370929,0.000338914,0.0001182988,0.005236349],"genre_scores_gemma":[0.998128,0.0003084106,0.0006220085,0.00009413242,0.0000847012,0.000009375841,0.00007919672,0.00001583611,0.0006582965],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00337598,"threshold_uncertainty_score":0.01129377,"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."}}