{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003233847,0.001231606,0.000437692,0.001068461,0.0004496447,0.0002768681,0.0003982321,0.0006629814,0.003667838],"category_scores_gemma":[0.001218732,0.0002045321,0.0002094287,0.0005563447,0.0005593451,0.0002589997,0.0004590684,0.0002811058,0.0004039848],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002675254,"about_ca_system_score_gemma":0.0002884023,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006525888,"about_ca_topic_score_gemma":0.000616717,"domain_scores_codex":[0.9996777,0.00004831645,0.00004781242,0.00008841647,0.00005325962,0.00008457946],"domain_scores_gemma":[0.9995866,0.0001030048,0.0001074822,0.00001966863,0.00004867587,0.0001346448],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009181121,0.0001389363,0.8258973,0.0001286505,0.00008079371,0.1360643,0.0005014539,0.0003386084,0.02793602,0.0003492406,0.0006079643,0.007038672],"study_design_scores_gemma":[0.00007362881,0.000552521,0.5768939,0.00004654289,0.00007619545,0.416591,0.0003011071,0.0005077994,0.00356504,0.0002348978,0.001137361,0.000020163],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978942,0.0003276993,0.0002116034,0.00004272702,0.000004579717,0.00002291556,0.0001875283,0.00001430753,0.001294459],"genre_scores_gemma":[0.9994811,0.00005802464,0.000117804,0.00002735988,0.00001009951,0.000007397958,0.0001836172,0.000002729711,0.0001117441],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003667838,"threshold_uncertainty_score":0.01227009,"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."}}