{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004674651,0.002369036,0.002092058,0.002439846,0.004128561,0.001643154,0.001576803,0.006925918,0.002354973],"category_scores_gemma":[0.002289603,0.001195256,0.002044433,0.001539815,0.002027202,0.002270107,0.001978888,0.005077934,0.000991923],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00197057,"about_ca_system_score_gemma":0.001098762,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003313411,"about_ca_topic_score_gemma":0.003700958,"domain_scores_codex":[0.9990295,0.00009824786,0.00009610302,0.0002888018,0.0001126004,0.0003747409],"domain_scores_gemma":[0.998104,0.0002906306,0.0002855398,0.0001671799,0.000128619,0.001023967],"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":[0.00004119049,0.00003352112,0.004510346,0.00001338798,0.00000928015,0.9937258,0.0000874602,0.00005495259,0.0005278885,0.0001564239,0.0003671774,0.0004725164],"study_design_scores_gemma":[0.00002048564,0.00009010478,0.003737756,0.0000165392,0.00002197156,0.995034,0.00006525361,0.0002884225,0.0002383566,0.0001508381,0.0003225103,0.00001391182],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9623762,0.005587724,0.006220987,0.005682875,0.001469471,0.0002886994,0.0005646297,0.0006342046,0.01717526],"genre_scores_gemma":[0.993548,0.0009066656,0.001071306,0.001752044,0.001210843,0.00003462963,0.0001757881,0.00003364231,0.001267177],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006925918,"threshold_uncertainty_score":0.0142976,"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."}}