{"id":"W3087844029","doi":"10.1016/j.jaci.2020.08.040","title":"Combined immunodeficiency caused by a novel homozygous NFKB1 mutation","year":2020,"lang":"en","type":"article","venue":"Journal of Allergy and Clinical Immunology","topic":"NF-κB Signaling Pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Ontario Genomics; Hospital for Sick Children","funders":"","keywords":"Mutation; Immunodeficiency; Virology; Genetics; Biology; Immune system; 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":[0.0001440156,0.002104065,0.0005684367,0.001235077,0.0008549592,0.0004591243,0.0008628174,0.00167529,0.003396982],"category_scores_gemma":[0.0005350681,0.0003008543,0.0004779556,0.0005765598,0.0009847821,0.0002968193,0.0005017123,0.0009541279,0.00053165],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005634323,"about_ca_system_score_gemma":0.0004241477,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00104501,"about_ca_topic_score_gemma":0.001002804,"domain_scores_codex":[0.9998047,0.0000212975,0.00001991576,0.00005954866,0.00004456902,0.00005007556],"domain_scores_gemma":[0.9996222,0.0001477751,0.00008800206,0.00001693019,0.00001690777,0.0001082321],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0003926458,0.0001202227,0.005393145,0.0001167966,0.00007066179,0.8363622,0.0001570878,0.0002755591,0.1504557,0.001463321,0.0006844809,0.004508226],"study_design_scores_gemma":[0.0001417827,0.0002993229,0.02636134,0.00004979138,0.0002017701,0.9319038,0.0001179948,0.001419309,0.03481681,0.0007888674,0.003850028,0.00004916354],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9846073,0.002107947,0.002499984,0.0008049041,0.0001737167,0.00007135684,0.0009733181,0.0002655563,0.008495885],"genre_scores_gemma":[0.996694,0.0004054709,0.00094481,0.0001433644,0.0000830461,0.00001760901,0.0001905256,0.00002429711,0.001496893],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003396982,"threshold_uncertainty_score":0.01136404,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02398857051811183,"score_gpt":0.2863684284736164,"score_spread":0.2623798579555046,"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."}}