{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001307684,0.0001823114,0.0007440971,0.0002651978,0.0002231334,0.000004658284,0.0003031402,0.000261221,0.000384782],"category_scores_gemma":[0.0002180433,0.0001686517,0.0002605376,0.0001254696,0.001066753,0.0001708529,0.0002579548,0.001086563,0.000004002073],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009685846,"about_ca_system_score_gemma":0.0003668753,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001462826,"about_ca_topic_score_gemma":0.000005325823,"domain_scores_codex":[0.9969701,0.001014978,0.001474553,0.000199518,0.00008510565,0.0002557134],"domain_scores_gemma":[0.997795,0.000491134,0.001262618,0.0002526262,0.0001865271,0.00001208947],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.04610876,0.009350405,0.05039413,0.0002059433,0.03453315,0.0002189287,0.01656131,0.0006472202,0.5815167,0.01054542,0.002880729,0.2470372],"study_design_scores_gemma":[0.01314284,0.01596455,0.8823797,0.0001058357,0.000531785,0.005062511,0.005199571,0.000115095,0.001513298,0.00242436,0.07296805,0.0005923697],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8394923,0.1572703,0.0000634872,0.000135198,0.00285182,0.00008625143,0.000008829294,0.000009702465,0.00008204678],"genre_scores_gemma":[0.9938728,0.004886541,0.00002414614,0.0001424665,0.000004852503,0.000004766335,0.00002661491,0.00001374958,0.001024113],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8319856,"threshold_uncertainty_score":0.6877418,"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."}}