{"id":"W4390706534","doi":"10.1182/blood.2023022098","title":"Clinical and functional spectrum of RAC2-related immunodeficiency","year":2024,"lang":"en","type":"article","venue":"Blood","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hôpital de l'Enfant-Jésus; Centre Hospitalier de l’Université de Montréal; Université de Montréal; Montreal Clinical Research Institute; Centre hospitalier universitaire de Québec","funders":"National Institute of Allergy and Infectious Diseases; Agence Nationale de la Recherche","keywords":"Biology; Immunodeficiency; Severe combined immunodeficiency; Superoxide; Immunology; Missense mutation; Mutation; Immune system; Genetics; Biochemistry","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":[0.0000801632,0.00006390961,0.00007982952,0.00001902125,0.00002348645,0.000009834435,0.00003248786,0.00008194367,0.00003472849],"category_scores_gemma":[0.00001296763,0.00005320849,0.00006740285,0.00005182677,0.00007891031,0.000001672232,0.00004169091,0.00004842199,0.00001113021],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":5.927722e-7,"about_ca_system_score_gemma":0.00003749712,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007445288,"about_ca_topic_score_gemma":0.000002816864,"domain_scores_codex":[0.9994976,0.00001680512,0.0001566725,0.0001953477,0.00005066208,0.00008289503],"domain_scores_gemma":[0.999818,0.000008578649,0.00001994867,0.0001187088,0.00001067503,0.00002410272],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002849396,0.007442859,0.6291153,0.0002536676,0.004400689,0.0001102005,0.0001658845,0.00002408955,0.276687,0.01657511,0.003731814,0.0612084],"study_design_scores_gemma":[0.01850205,0.004984836,0.5432438,0.000195312,0.00176109,0.0005598651,0.0002001729,0.0003557005,0.3725173,0.01335031,0.04327164,0.001057888],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9768457,0.01988159,0.00007784811,0.00007954695,0.0001719265,0.00005206309,0.00001257295,0.00001009015,0.002868694],"genre_scores_gemma":[0.998648,0.0006478712,0.00007012481,0.00002023255,0.00004222866,0.000002980968,0.00004440244,0.000008195619,0.0005159107],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09583038,"threshold_uncertainty_score":0.2169779,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008325731024809291,"score_gpt":0.2539929644079974,"score_spread":0.2456672333831881,"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."}}