{"id":"W2891759323","doi":"10.1016/j.jaci.2018.08.027","title":"The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018)","year":2018,"lang":"en","type":"letter","venue":"Journal of Allergy and Clinical Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":84,"is_retracted":false,"has_abstract":false,"ca_institutions":"CancerCare Manitoba; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Health Resources and Services Administration; National Center for Advancing Translational Sciences; Center for International Blood and Marrow Transplant Research; National Institute of Neurological Disorders and Stroke; National Institute of Allergy and Infectious Diseases; National Heart, Lung, and Blood Institute; Office of Naval Research; National Cancer Institute; U.S. Department of Health and Human Services; National Institutes of Health; Pediatric Blood and Marrow Transplant Consortium","keywords":"Newborn screening; Severe combined immunodeficiency; Natural history; Immunodeficiency; Population; Medicine; Immune system; Primary immunodeficiency; Disease; Immunodeficiency Syndrome; Immunology; Pediatrics; Gene; Biology; Genetics; Internal medicine; Environmental health","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":[0.0003718703,0.0001798473,0.0002629774,0.0005982136,0.002789264,0.00114509,0.0007688836,0.0033208,0.002119493],"category_scores_gemma":[0.003067238,0.0001444118,0.0002497604,0.001301974,0.001072025,0.0006081716,0.0005396424,0.003064816,0.000312968],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01329263,"about_ca_system_score_gemma":0.01870554,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9032456,"about_ca_topic_score_gemma":0.9279304,"domain_scores_codex":[0.9992778,0.00006611439,0.0000615953,0.00005939254,0.0001933013,0.0003418124],"domain_scores_gemma":[0.9981909,0.0002325225,0.0001624821,0.00003372251,0.0008737462,0.0005066022],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.0002404592,0.0001251143,0.4442148,0.0001436823,0.00007153567,0.03434056,0.003254568,0.0004912487,0.001080981,0.004727288,0.4601904,0.05111937],"study_design_scores_gemma":[0.0001519157,0.0001228156,0.5440499,0.001730961,0.000251671,0.05934576,0.02483499,0.002096017,0.0007025138,0.007323994,0.3591973,0.0001921711],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1951493,0.01644076,0.0002097799,0.7464927,0.005525534,0.00004310536,0.001756342,0.00004510743,0.0343373],"genre_scores_gemma":[0.7170473,0.01502985,0.0004566028,0.2460742,0.008741885,0.00002616805,0.0006167152,0.00003727321,0.01196989],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.09675443,"threshold_uncertainty_score":0.1946484,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01372069630920731,"score_gpt":0.2559022448767708,"score_spread":0.2421815485675635,"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."}}