{"id":"W2917063005","doi":"10.14785/lymphosign-2019-0001","title":"Coronin 1A deficiency identified by newborn screening for severe combined immunodeficiency","year":2019,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Severe combined immunodeficiency; Immunodeficiency; Hypogammaglobulinemia; Biology; Primary immunodeficiency; Sanger sequencing; Exome sequencing; Immunology; Mutation; Immunodeficiency Syndrome; Immune system; Virology; Antibody; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0002008402,0.0006331894,0.0003885475,0.001391941,0.0004803948,0.0003951148,0.0003193068,0.0008293272,0.0009408829],"category_scores_gemma":[0.001353817,0.0001677477,0.0002250317,0.0005216266,0.0005278179,0.0002836239,0.0005115418,0.0004934949,0.0001262846],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003384076,"about_ca_system_score_gemma":0.0004605062,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001239708,"about_ca_topic_score_gemma":0.0009823238,"domain_scores_codex":[0.9997221,0.00002862247,0.00004065882,0.00008913122,0.00005936174,0.00006014424],"domain_scores_gemma":[0.9995845,0.00016922,0.0000855165,0.00001725374,0.00003127248,0.0001122582],"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":[0.0003163349,0.00005949287,0.1534435,0.0001121465,0.00003219596,0.7791665,0.0008110694,0.0001979049,0.05383987,0.0005451319,0.0006558411,0.01082007],"study_design_scores_gemma":[0.00001138643,0.0001881971,0.08363019,0.00006005145,0.0000510701,0.9002455,0.0002301274,0.0004176435,0.01314677,0.0002500197,0.001747981,0.00002096212],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995223,0.001245978,0.001065412,0.0003050105,0.00003333048,0.00003690984,0.0002817444,0.00005662869,0.001751974],"genre_scores_gemma":[0.9985474,0.0003525938,0.0006420133,0.00007317402,0.00002400905,0.000006402716,0.0001016948,0.000004760019,0.0002478334],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001391941,"threshold_uncertainty_score":0.003147602,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008508274905008089,"score_gpt":0.2218671589301177,"score_spread":0.2133588840251096,"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."}}