{"id":"W4377696116","doi":"10.1016/j.clim.2023.109387","title":"RAC2 mutations and immune deficiency – functional spectrum of an international cohort","year":2023,"lang":"en","type":"article","venue":"Clinical Immunology","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Montreal Clinical Research Institute; Université Laval","funders":"","keywords":"Severe combined immunodeficiency; Immunology; Immunodeficiency; Mutation; Lymphocytosis; Biology; Medicine; Immune system; Genetics; Gene","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":[0.0001767224,0.00007052823,0.0001301363,0.00004578573,0.0000509168,0.000006174955,0.0001104339,0.0001336539,0.00005530338],"category_scores_gemma":[0.0001496118,0.0000661961,0.00006807296,0.00007698344,0.0002687649,0.000005352832,0.0001101746,0.00007084873,0.00003119337],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000281532,"about_ca_system_score_gemma":0.00004010637,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002174046,"about_ca_topic_score_gemma":0.00001437257,"domain_scores_codex":[0.9992381,0.00005492431,0.0002888766,0.000243154,0.00005434074,0.0001206461],"domain_scores_gemma":[0.9995992,0.00004055294,0.00008146871,0.0002041222,0.00004595554,0.00002872849],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004972928,0.001526032,0.8949246,0.000007609186,0.001243526,0.00001821792,0.0000419619,0.00006429332,0.06022239,0.005216587,0.0004342797,0.03580318],"study_design_scores_gemma":[0.001193424,0.0006058614,0.989082,0.000002268071,0.00004063942,0.0000193501,0.00006396063,0.00007502928,0.005683643,0.001814792,0.001343685,0.00007539504],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971359,0.00053916,0.000113699,0.0003063809,0.0005384719,0.00008222382,0.00002210323,0.00001530389,0.001246734],"genre_scores_gemma":[0.9978755,0.0007857894,0.0001422507,0.00005576776,0.00006381241,0.00001426523,0.0006536639,0.00000820111,0.0004007556],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09415733,"threshold_uncertainty_score":0.2699399,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02251488963573771,"score_gpt":0.32938708127955,"score_spread":0.3068721916438122,"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."}}