{"id":"W2011921427","doi":"10.1007/s12026-012-8380-9","title":"Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency","year":2013,"lang":"en","type":"article","venue":"Immunologic Research","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"","keywords":"Purine nucleoside phosphorylase; Severe combined immunodeficiency; Biology; Immunodeficiency; Mutation; Immunology; Immune system; T-cell receptor; Purine; Nucleotide salvage; Gene; Molecular biology; T cell; Genetics; Biochemistry; Enzyme","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"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":[0.0003753639,0.001982698,0.0008114939,0.00136728,0.0006473144,0.0006274452,0.0005079156,0.001167296,0.002896249],"category_scores_gemma":[0.001220781,0.0006312786,0.0003987173,0.0006183108,0.001018872,0.0006773537,0.0007508522,0.001053819,0.0005596389],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003419911,"about_ca_system_score_gemma":0.0004067987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004747667,"about_ca_topic_score_gemma":0.0004075797,"domain_scores_codex":[0.9996777,0.00007223516,0.00004749031,0.00006382712,0.00006598246,0.00007274078],"domain_scores_gemma":[0.9993312,0.0001521653,0.0001509125,0.00008021944,0.00005628511,0.0002292388],"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":[0.003393225,0.0002711194,0.03253922,0.0004413971,0.0001915433,0.8419225,0.0002985759,0.0005111806,0.1058978,0.001750325,0.001993581,0.01078946],"study_design_scores_gemma":[0.0002187197,0.0008383407,0.04163176,0.00002795788,0.000149461,0.9366787,0.0001708936,0.0009043184,0.01490158,0.0009343971,0.003511113,0.00003278914],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9813147,0.001950752,0.00273394,0.0009230786,0.0001956795,0.0001186702,0.0003855384,0.0002005061,0.01217713],"genre_scores_gemma":[0.9971786,0.000524317,0.0006093941,0.0001389687,0.0001233095,0.00001308011,0.0001576106,0.00002264513,0.00123223],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002896249,"threshold_uncertainty_score":0.009688914,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0260556281964859,"score_gpt":0.3165053872707947,"score_spread":0.2904497590743089,"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."}}