{"id":"W2900715443","doi":"10.3899/jrheum.180210","title":"An Adult Fatal Case with a <i>STAT1</i> Gain-of-function Mutation Associated with Multiple Autoimmune Diseases","year":2018,"lang":"en","type":"letter","venue":"The Journal of Rheumatology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Primary immunodeficiency; Common variable immunodeficiency; Rheumatology; Internal medicine; Immunodeficiency; Immunology; Pediatrics; Disease; Immune system; Antibody","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0005405573,0.0004700749,0.001105617,0.000309409,0.000473188,0.00002161521,0.0006284448,0.0007918418,0.0001397556],"category_scores_gemma":[0.0003411138,0.0002734015,0.0001913462,0.0002863125,0.001498423,0.0002692008,0.00004868291,0.00187665,0.00002946859],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007802012,"about_ca_system_score_gemma":0.0005357573,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001120453,"about_ca_topic_score_gemma":0.0001742363,"domain_scores_codex":[0.9966035,0.001364123,0.001047023,0.0002615759,0.0001602071,0.0005635333],"domain_scores_gemma":[0.9946902,0.001040598,0.002727315,0.0005721702,0.000957047,0.00001264673],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"case_report","study_design_scores_codex":[0.1050137,0.01125409,0.09225545,0.002975705,0.0583524,0.02166961,0.08496255,0.005743969,0.05835738,0.0006835989,0.5299872,0.02874437],"study_design_scores_gemma":[0.05115287,0.04467798,0.01709622,0.007050004,0.01375638,0.7418013,0.02713586,0.0007084048,0.007173548,0.0009525701,0.08423385,0.004261016],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9808363,0.007219431,0.001764362,0.008413348,0.001127984,0.0003656927,0.0001739004,0.00005804876,0.00004093922],"genre_scores_gemma":[0.9915497,0.0001481221,0.00002229398,0.007244864,0.000009811992,0.00001051398,0.0007507131,0.00006749549,0.0001964537],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7201317,"threshold_uncertainty_score":0.9999718,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006303269841084897,"score_gpt":0.2095697428099139,"score_spread":0.203266472968829,"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."}}