{"id":"W4382199806","doi":"10.1016/j.jaip.2023.06.041","title":"A novel variant in caspase recruitment domain family member 11 highlights the variability of clinical manifestations and management in a three generation family","year":2023,"lang":"en","type":"article","venue":"The Journal of Allergy and Clinical Immunology In Practice","topic":"NF-κB Signaling Pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier de l’Université de Montréal","funders":"Chung Hua University","keywords":"Cell biology; Biology; Phenotype; Signal transduction; Nuclear localization sequence; Genetics; Gene; Cytoplasm","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":[0.0115555,0.0001240672,0.000312265,0.00008467761,0.0000634747,0.00001214088,0.0002462592,0.0002463805,0.000002747257],"category_scores_gemma":[0.001366678,0.00007958175,0.0000725374,0.0002012103,0.000324186,0.00002411775,0.0002251968,0.0005377023,0.000001367678],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001845623,"about_ca_system_score_gemma":0.0001218473,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000227101,"about_ca_topic_score_gemma":0.002268513,"domain_scores_codex":[0.9959223,0.002027184,0.001483313,0.0002382309,0.0001445068,0.0001845084],"domain_scores_gemma":[0.996769,0.00207961,0.0006632039,0.0003358485,0.0001148513,0.00003745269],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.03795563,0.01933345,0.05856854,0.0001360032,0.022329,0.005538321,0.008957488,0.01034305,0.6629595,0.1302765,0.002537412,0.04106503],"study_design_scores_gemma":[0.008678688,0.001993382,0.9667442,0.0001183526,0.0004595934,0.0007269362,0.003813448,0.001353326,0.0004175114,0.004979957,0.01044847,0.0002661244],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927596,0.0007715315,0.001307323,0.004171833,0.0003717247,0.0003453485,0.000004135635,0.000002357731,0.0002661803],"genre_scores_gemma":[0.9632383,0.03258113,0.003308148,0.0006757965,0.0001221834,0.00002439044,0.000007878679,0.00001161981,0.00003054379],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9081756,"threshold_uncertainty_score":0.4004929,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1270278650812845,"score_gpt":0.3939790448190451,"score_spread":0.2669511797377606,"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."}}