{"id":"W2893909331","doi":"10.1007/s10875-018-0549-0","title":"Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient","year":2018,"lang":"en","type":"article","venue":"Journal of Clinical Immunology","topic":"Fungal Infections and Studies","field":"Medicine","cited_by":37,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"Departamento Administrativo de Ciencia, Tecnología e Innovación (COLCIENCIAS)","keywords":"Corynespora cassiicola; Frameshift mutation; Sanger sequencing; Compound heterozygosity; Biology; Mucocutaneous zone; Nonsense mutation; Exon; Exome sequencing; Peripheral blood mononuclear cell; Medicine; Pathology; Mutation; Disease; Missense mutation; Genetics; 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":[0.000156151,0.002096624,0.0008519519,0.001193057,0.00177996,0.001097581,0.000859588,0.002108266,0.002698415],"category_scores_gemma":[0.001444182,0.000601526,0.0004855597,0.000679589,0.0009961117,0.0005438596,0.0009068055,0.001290774,0.0004830942],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001017172,"about_ca_system_score_gemma":0.0007422956,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007094278,"about_ca_topic_score_gemma":0.008866049,"domain_scores_codex":[0.9996659,0.00002835824,0.00003630271,0.0001135333,0.00004973486,0.0001061892],"domain_scores_gemma":[0.9992551,0.0001926877,0.0001161494,0.00004027641,0.0000616602,0.0003340492],"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":[0.000181679,0.00006216094,0.02826233,0.0000588966,0.00001813332,0.9641644,0.0002309222,0.00007692048,0.00462988,0.0001677504,0.0005228272,0.001624265],"study_design_scores_gemma":[0.00002432712,0.0000723714,0.03918704,0.00004063944,0.0000419662,0.9584693,0.0003445371,0.0002193251,0.0006523111,0.0001318279,0.0007906994,0.00002571235],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9857703,0.001756098,0.001059537,0.001171775,0.0001622996,0.0001174884,0.0007554649,0.00009404832,0.00911299],"genre_scores_gemma":[0.9983342,0.0003771527,0.0003204295,0.0002089034,0.00005688222,0.000005398214,0.0001376071,0.0000222089,0.0005372507],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007094278,"threshold_uncertainty_score":0.01410592,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0532437173292017,"score_gpt":0.3677129310519092,"score_spread":0.3144692137227075,"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."}}