{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003124936,0.0006689184,0.0003781491,0.001387615,0.0008515777,0.0006535492,0.0005001113,0.0004671062,0.004103114],"category_scores_gemma":[0.0009215241,0.000253517,0.0004368413,0.001051519,0.0004149802,0.0004582825,0.0007695836,0.0004960492,0.0005474188],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002049395,"about_ca_system_score_gemma":0.0002676823,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00298819,"about_ca_topic_score_gemma":0.00141116,"domain_scores_codex":[0.9996973,0.0000479189,0.00002490105,0.0001148204,0.00004190505,0.00007315391],"domain_scores_gemma":[0.9996465,0.00003886097,0.00009209867,0.00003709388,0.00004782876,0.0001376118],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005832058,0.0001584201,0.9826608,0.00001291898,0.0001112755,0.003753247,0.0008242914,0.0001339596,0.004974843,0.0004761201,0.0007174163,0.005593503],"study_design_scores_gemma":[0.000019174,0.000198175,0.9836344,0.00002437309,0.00008404415,0.01317287,0.0009886359,0.0001774328,0.0003649197,0.0002132744,0.001107049,0.00001580839],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977446,0.0001831784,0.0001270008,0.0000779625,0.000005305663,0.000005344965,0.0003268001,0.000004996964,0.001524774],"genre_scores_gemma":[0.998725,0.0002072303,0.00009241813,0.00004074703,0.00001479405,0.000008955069,0.0004931068,0.000007602649,0.0004101306],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004103114,"threshold_uncertainty_score":0.01372629,"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."}}