{"id":"W1965512447","doi":"10.1016/j.jaci.2013.09.032","title":"Fatal combined immunodeficiency associated with heterozygous mutation in STAT1","year":2013,"lang":"en","type":"article","venue":"Journal of Allergy and Clinical Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":89,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Immunodeficiency; Mutation; Heterozygote advantage; Virology; Medicine; Genetics; Biology; Immunology; Allele; Gene; Immune system","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":[0.0002596829,0.002600816,0.000905506,0.001831357,0.001299152,0.0007811297,0.001226619,0.00321357,0.002709016],"category_scores_gemma":[0.001451611,0.0005778733,0.0009633069,0.0008281008,0.001811242,0.0004240454,0.0009023607,0.001697511,0.0006278477],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007643943,"about_ca_system_score_gemma":0.0007388453,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00150547,"about_ca_topic_score_gemma":0.001271985,"domain_scores_codex":[0.9996282,0.00004698339,0.00003774772,0.00008049644,0.00006998496,0.0001366069],"domain_scores_gemma":[0.9990394,0.0003471137,0.0002067692,0.00007544739,0.00005029524,0.0002810227],"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":[0.0002805975,0.00003231329,0.005213689,0.00003414556,0.00003167581,0.9845309,0.00003949348,0.0001555606,0.008302033,0.0002834147,0.0003208295,0.000775432],"study_design_scores_gemma":[0.00009814354,0.0001836018,0.01141653,0.00001781452,0.0001277827,0.9812073,0.00008455647,0.0009063313,0.004766307,0.0004047406,0.0007603017,0.00002661469],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9834884,0.002011503,0.002650703,0.001222319,0.0005109897,0.0001013442,0.001066707,0.0004074619,0.008540669],"genre_scores_gemma":[0.9976973,0.0002821932,0.0003676316,0.0002265854,0.0001914987,0.00001180854,0.0001868443,0.00002155853,0.001014629],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00321357,"threshold_uncertainty_score":0.009062529,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01178528569836139,"score_gpt":0.2589976447758323,"score_spread":0.2472123590774709,"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."}}