{"id":"W4224307136","doi":"10.1084/jem.20212427","title":"Life-threatening viral disease in a novel form of autosomal recessive <i>IFNAR2</i> deficiency in the Arctic","year":2022,"lang":"en","type":"article","venue":"The Journal of Experimental Medicine","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":92,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital; Montreal General Hospital; Montreal Children's Hospital; McGill University; McGill University Health Centre","funders":"Danmarks Frie Forskningsfond; Novo Nordisk Fonden; Medical Research Council; Novo Nordisk; Aarhus Universitet; Steno Diabetes Center Copenhagen; H. Lundbeck A/S; Syddansk Universitet; Lundbeckfonden; Wellcome Trust; CSL Behring","keywords":"Disease; Genetics; The arctic; Arctic; Biology; Medicine; Internal medicine; Ecology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001613397,0.001048369,0.0003262021,0.000521388,0.00090082,0.0003969317,0.0002552214,0.0003938533,0.001227692],"category_scores_gemma":[0.0004276854,0.000219608,0.0003852878,0.0003845752,0.0005911345,0.0001106733,0.0003933222,0.0004225353,0.0002308917],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004823959,"about_ca_system_score_gemma":0.0005848112,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02103568,"about_ca_topic_score_gemma":0.0205042,"domain_scores_codex":[0.9997863,0.00003339583,0.00002071598,0.00006555994,0.00003935674,0.00005462464],"domain_scores_gemma":[0.999811,0.00003189693,0.00006009157,0.00001313767,0.00002461505,0.00005921062],"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":[0.00175661,0.000432864,0.2633815,0.000172308,0.0002712451,0.4045411,0.003357728,0.00136826,0.307995,0.001924961,0.001130332,0.01366821],"study_design_scores_gemma":[0.00007792522,0.00128765,0.359248,0.00005855854,0.0002389189,0.5990031,0.001822111,0.001994448,0.03055037,0.0003646876,0.005298607,0.00005563198],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980773,0.00008393958,0.000612904,0.0000488337,0.00002127288,0.00001404596,0.000177526,0.00002046385,0.0009437284],"genre_scores_gemma":[0.9984512,0.0001005188,0.0006092412,0.0000484308,0.0000147373,0.000004841965,0.0001244461,0.00001383649,0.0006326876],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02103568,"threshold_uncertainty_score":0.04182649,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01914582950809757,"score_gpt":0.2841327159019369,"score_spread":0.2649868863938393,"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."}}