{"id":"W4366984702","doi":"10.21203/rs.3.rs-2817321/v1","title":"A novel mutation causing complete TYK2 deficiency, with severe respiratory viral infections, EBV-driven lymphoma, and Jamestown Canyon viral encephalitis","year":2023,"lang":"en","type":"preprint","venue":"Research Square","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"Fonds de Recherche du Québec - Santé; Moderna; McGill University Health Centre; CSL Behring; AstraZeneca","keywords":"Viral encephalitis; Virology; Mutation; Lymphoma; Encephalitis; Medicine; Biology; Immunology; Virus; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.00007541847,0.001252609,0.0003424082,0.0006409633,0.00081184,0.0003798052,0.0003363747,0.001005316,0.001771527],"category_scores_gemma":[0.0003923513,0.0002465561,0.0003326636,0.0003279218,0.0005456211,0.0002058613,0.0004893484,0.0007774549,0.0004137977],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006714494,"about_ca_system_score_gemma":0.0006774605,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01094663,"about_ca_topic_score_gemma":0.0132737,"domain_scores_codex":[0.9998449,0.000007990085,0.00001424416,0.00003931515,0.0000362204,0.00005723224],"domain_scores_gemma":[0.9997907,0.00004106851,0.00003245461,0.000007816475,0.00001841152,0.0001096734],"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":[0.0001956498,0.0000624988,0.01604295,0.00005633328,0.00002992029,0.9164494,0.000408951,0.0001174348,0.06295282,0.0002495152,0.0004342585,0.003000288],"study_design_scores_gemma":[0.00004125034,0.0002579034,0.04716472,0.00001425416,0.00003321497,0.9361531,0.0003028597,0.0003436188,0.01325347,0.00008867434,0.00232932,0.00001770177],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953614,0.000553023,0.0007063019,0.0003815406,0.00005861826,0.00004136174,0.0003357078,0.00005347913,0.002508519],"genre_scores_gemma":[0.9966439,0.0002215539,0.0004031283,0.000134655,0.00003945889,0.000007752292,0.0001781283,0.00001915595,0.002352261],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01094663,"threshold_uncertainty_score":0.02176583,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05383574838672738,"score_gpt":0.3282553833735567,"score_spread":0.2744196349868293,"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."}}