{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001862197,0.002399568,0.0006758097,0.001634165,0.0009178009,0.0004712685,0.0006373777,0.0008746902,0.003846934],"category_scores_gemma":[0.000678994,0.0004508673,0.0006720363,0.0007115246,0.0007631349,0.0003451825,0.001164703,0.0007037685,0.0005168191],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003755263,"about_ca_system_score_gemma":0.0003567935,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001099736,"about_ca_topic_score_gemma":0.001085427,"domain_scores_codex":[0.9996438,0.00003923253,0.00004290165,0.0001367036,0.00006459338,0.00007280619],"domain_scores_gemma":[0.9996226,0.0000763564,0.00008192636,0.00002847815,0.00002475004,0.0001657381],"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":[0.0007605685,0.0003708203,0.08347768,0.0001430113,0.0002297555,0.6569038,0.0009711228,0.0007346382,0.2328905,0.001269609,0.001069249,0.02117936],"study_design_scores_gemma":[0.00009028995,0.0005917163,0.06045237,0.00002284852,0.0001765264,0.9184592,0.0002579136,0.0007766371,0.01535185,0.000411924,0.003347333,0.00006141628],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964166,0.0001480408,0.001643357,0.0001281348,0.00002069651,0.00005731102,0.000351798,0.00009300243,0.001141027],"genre_scores_gemma":[0.9963727,0.0001648255,0.001646495,0.00008290642,0.00003277,0.00002277495,0.0002742847,0.00002499391,0.001378272],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003846934,"threshold_uncertainty_score":0.0128693,"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."}}