{"id":"W4214548664","doi":"10.14785/lymphosign-2022-0001","title":"A novel mutation in <i>TRAC</i> in a patient with abnormal newborn screening for severe combined immunodeficiency","year":2022,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"T-cell receptor; Severe combined immunodeficiency; Immunodeficiency; Primary immunodeficiency; Mutation; Biology; Immunology; T cell; Medicine; Immune system; Gene; Genetics","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":[0.0002609805,0.001941552,0.000861996,0.002133863,0.001570245,0.0007697138,0.0009784889,0.003031028,0.001890292],"category_scores_gemma":[0.002051975,0.0005845894,0.0006789144,0.0009342212,0.001254728,0.0007977278,0.000979,0.001516022,0.0003551673],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006959093,"about_ca_system_score_gemma":0.0006632705,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001758954,"about_ca_topic_score_gemma":0.001503138,"domain_scores_codex":[0.9994977,0.00004488038,0.00005730093,0.000176076,0.00007451884,0.0001496348],"domain_scores_gemma":[0.998902,0.0003610033,0.0002173178,0.00004462932,0.00005495257,0.0004202102],"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":[0.00004026776,0.00003106092,0.007879771,0.00002020866,0.000007030712,0.986384,0.0002356937,0.00005946349,0.003771583,0.0001537395,0.0002083305,0.001208841],"study_design_scores_gemma":[0.000006677606,0.0001072039,0.007549287,0.00001142595,0.0000120588,0.9907126,0.00006407668,0.0001646845,0.001013612,0.00006878156,0.0002790519,0.0000106175],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929832,0.0009941765,0.001447006,0.0008025467,0.0001175698,0.00005396006,0.000212659,0.0001622108,0.003226622],"genre_scores_gemma":[0.9979729,0.0002287425,0.0008439405,0.0002205776,0.0000911633,0.00001250048,0.00007252136,0.00001951246,0.0005382604],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003031028,"threshold_uncertainty_score":0.006323695,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009102896361018815,"score_gpt":0.2074973664745635,"score_spread":0.1983944701135447,"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."}}