{"id":"W4318926634","doi":"10.1007/s10875-023-01440-8","title":"Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11","year":2023,"lang":"en","type":"letter","venue":"Journal of Clinical Immunology","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":10,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Canadian Institutes of Health Research; Uniformed Services University of the Health Sciences; Genome British Columbia; BC Children's Hospital; Children's Hospital Foundation; Jeffrey Modell Foundation; Killam Trusts; U.S. Department of Defense","keywords":"Loss function; Genetics; Medical microbiology; Disease; Biology; Function (biology); Medicine; Phenotype; Pathology; Gene; Immunology","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":[0.0004924233,0.002845366,0.0009925951,0.0007739751,0.001475727,0.001043476,0.001233396,0.006076598,0.003536862],"category_scores_gemma":[0.002848005,0.0003886398,0.0007418267,0.0006637211,0.001708379,0.0008093324,0.0007223389,0.002978016,0.0008360541],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007889663,"about_ca_system_score_gemma":0.0007174987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001816606,"about_ca_topic_score_gemma":0.001705984,"domain_scores_codex":[0.9993875,0.0001061582,0.00006288304,0.0001611314,0.0001027838,0.0001794588],"domain_scores_gemma":[0.9985145,0.0007232947,0.0001950493,0.00007203416,0.0001387596,0.0003562535],"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":[0.0002290921,0.00004079176,0.002567716,0.00003305097,0.00002243574,0.9886113,0.00007815383,0.00008079696,0.0040493,0.0007535722,0.002263191,0.001270713],"study_design_scores_gemma":[0.0002284285,0.0002208863,0.01107213,0.00004973714,0.00009922648,0.9799605,0.0001596584,0.001563931,0.002541221,0.0009385641,0.003133966,0.0000317087],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9097953,0.003486525,0.007001607,0.03505148,0.004737121,0.0002941673,0.0009551504,0.0005897364,0.03808888],"genre_scores_gemma":[0.9866176,0.00050337,0.001971132,0.004140551,0.001677721,0.0000375061,0.0001431028,0.00005978319,0.004849065],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006076598,"threshold_uncertainty_score":0.01183194,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07863456936049096,"score_gpt":0.3433599985700235,"score_spread":0.2647254292095326,"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."}}