{"id":"W2904998921","doi":"10.3389/fimmu.2018.02944","title":"A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family","year":2018,"lang":"en","type":"article","venue":"Frontiers in Immunology","topic":"NF-κB Signaling Pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"Uniformed Services University of the Health Sciences; AllerGen; McGill University Health Centre; McGill University; National Institute of Allergy and Infectious Diseases; Division of Intramural Research, National Institute of Allergy and Infectious Diseases; Concern Foundation; NIH Clinical Center; National Cancer Institute; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Biology; Mutation; Immune system; T cell; Ectopic expression; Germline mutation; B cell; Cancer research; Genetics; Cell biology; Cell culture; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001616619,0.0001188478,0.0002152363,0.0001811802,0.00002570625,0.000004406952,0.00009049637,0.0002368648,9.643863e-7],"category_scores_gemma":[0.00008573615,0.0001258278,0.0000380381,0.0001247457,0.0002311698,0.000006881672,0.00005296591,0.00008552395,2.78766e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002766245,"about_ca_system_score_gemma":0.00005034909,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001870039,"about_ca_topic_score_gemma":0.0002517978,"domain_scores_codex":[0.9990602,0.0001808231,0.0002877725,0.0002466492,0.00006696575,0.0001576144],"domain_scores_gemma":[0.9995009,0.000008526508,0.0001563598,0.0001993239,0.0001201066,0.0000147415],"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":[0.0004300329,0.00008249688,0.1389698,0.00001939313,0.00005899481,0.000003274101,0.0002724397,0.00007070573,0.8542668,0.00005088819,0.000369234,0.005405881],"study_design_scores_gemma":[0.003448549,0.003217644,0.5664586,0.00005805851,0.00003311296,0.00001859433,0.0001905146,0.0004704537,0.4244871,0.0009061669,0.0004339186,0.0002773206],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9885824,0.002044965,0.008347585,0.00001079904,0.0007236263,0.0002189858,0.00001832362,0.00000504463,0.0000482637],"genre_scores_gemma":[0.9971722,0.0002430467,0.002264433,0.00004918543,0.00004695786,0.00002189147,0.0001641569,0.00001486277,0.00002329309],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4297798,"threshold_uncertainty_score":0.513111,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00894226503940401,"score_gpt":0.2163788987034926,"score_spread":0.2074366336640886,"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."}}