{"id":"W3016219406","doi":"10.1016/j.jaci.2019.11.051","title":"Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations","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":130,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Medical Research Council; NIHR BioResource; National Institute of Allergy and Infectious Diseases; European Commission; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; Deutsche Forschungsgemeinschaft; E-Rare","keywords":"Phenotype; Genetics; Biology; Mutation; Immunology; 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":[0.0006157476,0.0006777495,0.0003433876,0.0007968654,0.0004827938,0.0002726811,0.0003508377,0.0004406512,0.0009800633],"category_scores_gemma":[0.001987169,0.000201931,0.0003296165,0.0004468126,0.0004047694,0.0001636325,0.0004314616,0.0002879853,0.0002615961],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003267658,"about_ca_system_score_gemma":0.0002691518,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001303529,"about_ca_topic_score_gemma":0.0009750814,"domain_scores_codex":[0.9995112,0.00008254075,0.00007947069,0.0001673528,0.00009825615,0.00006114651],"domain_scores_gemma":[0.9993414,0.0002199856,0.0002038755,0.00006586609,0.00007008642,0.00009878304],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002555275,0.0001154298,0.9535534,0.00004589782,0.00007398838,0.01173752,0.0008541835,0.0003474961,0.02319026,0.00008435036,0.0001662207,0.009575807],"study_design_scores_gemma":[0.0000623484,0.0008294337,0.9294726,0.00004212195,0.0001668226,0.06026039,0.0005231709,0.0006687206,0.006671606,0.0001266108,0.001157072,0.00001911916],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994438,0.00009845062,0.000173109,0.000009366246,0.00000136034,0.000007892339,0.00005632287,0.000002977062,0.0002066673],"genre_scores_gemma":[0.9991816,0.00007210208,0.0004450559,0.00002032184,0.000003580117,0.00001008773,0.0001934388,0.000003742625,0.00007010916],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001303529,"threshold_uncertainty_score":0.003278613,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02868203340848507,"score_gpt":0.2926542753753825,"score_spread":0.2639722419668974,"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."}}