{"id":"W4304183042","doi":"10.1016/j.jaci.2022.09.002","title":"Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome","year":2022,"lang":"en","type":"article","venue":"Journal of Allergy and Clinical Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":124,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; Université Laval; Centre hospitalier de l'Université Laval","funders":"National Health and Medical Research Council; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; National Institutes of Health; National Institute of Allergy and Infectious Diseases; Medical Research Council; Bundesministerium für Bildung und Forschung; Deutsche Forschungsgemeinschaft; National Research Foundation; Wellcome Trust; Arthritis National Research Foundation; Baylor College of Medicine; Jeffrey Modell Foundation","keywords":"Autoimmunity; Gain of function; STAT protein; STAT3; Germline; Immunology; Natural history; Disease; Autoimmune disease; Medicine; Biology; Cancer research; Immune system; Genetics; Gene; Mutation; Antibody; Internal medicine","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":[0.0001720432,0.0004316237,0.0002650076,0.0005941143,0.0004182975,0.0003783303,0.0002867215,0.0007341988,0.001696469],"category_scores_gemma":[0.001037743,0.000180202,0.0002231669,0.0004237676,0.0005222064,0.0004153981,0.0003239716,0.0005918226,0.0003252265],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001890906,"about_ca_system_score_gemma":0.0002163385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003854838,"about_ca_topic_score_gemma":0.0003452132,"domain_scores_codex":[0.9998498,0.00002919212,0.00001415324,0.0000387928,0.00003329548,0.00003470176],"domain_scores_gemma":[0.9993197,0.0002858026,0.0001529677,0.00005197757,0.00003658813,0.000153024],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001711272,0.0003418644,0.5670438,0.00009882921,0.00008152831,0.330619,0.0006463961,0.0005452673,0.07243583,0.003238707,0.001068313,0.02216919],"study_design_scores_gemma":[0.00008759053,0.0005451844,0.3329421,0.00003271855,0.00007852876,0.6568662,0.0003684801,0.001254272,0.004289021,0.001923839,0.001579896,0.0000322575],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962167,0.0005464454,0.0005962838,0.000227685,0.00001462067,0.00001494836,0.0000964161,0.00003140551,0.002255409],"genre_scores_gemma":[0.9993064,0.0001499457,0.0001676199,0.00006376838,0.00002636378,0.000004426778,0.00004447032,0.000005657251,0.0002313573],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001696469,"threshold_uncertainty_score":0.005675256,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01548323286364911,"score_gpt":0.2505032268679175,"score_spread":0.2350199940042684,"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."}}