{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00111928,0.0001119413,0.0002805644,0.0001832542,0.0001347304,0.000002405904,0.0004902399,0.00002653537,0.0004578663],"category_scores_gemma":[0.0002701959,0.00005708942,0.00006799005,0.0001963811,0.0003263529,0.00007599901,0.0001228505,0.0005374723,0.000002668312],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001282106,"about_ca_system_score_gemma":0.0001699966,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002064943,"about_ca_topic_score_gemma":0.000004757475,"domain_scores_codex":[0.9985194,0.0005170615,0.00056065,0.00007348227,0.0001241686,0.000205253],"domain_scores_gemma":[0.999126,0.0003356504,0.0003313585,0.0001528388,0.00002992766,0.0000242394],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.006936433,0.0006528975,0.001864148,0.000009469098,0.00003585009,0.00003805936,0.03654325,0.00004423443,0.9529378,0.0004418388,0.0003277469,0.0001682886],"study_design_scores_gemma":[0.03122044,0.02291269,0.06892221,0.001495376,0.0003169486,0.005007042,0.3777337,0.0001341662,0.4862131,0.0008049594,0.004696523,0.0005428357],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9644178,0.03222195,0.00001342841,0.002438358,0.0004706122,0.0001548821,0.000004187049,0.000002369786,0.0002763962],"genre_scores_gemma":[0.9988489,0.00007390769,0.000006508406,0.0008886693,0.00003059187,0.00001199332,0.000003353733,0.000007372432,0.0001287518],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4667246,"threshold_uncertainty_score":0.5013314,"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."}}