{"id":"W4390946545","doi":"10.1007/s10875-023-01610-8","title":"“Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease","year":2024,"lang":"en","type":"article","venue":"Journal of Clinical Immunology","topic":"Otitis Media and Relapsing Polychondritis","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"National Institute of Allergy and Infectious Diseases; National Institute of Diabetes and Digestive and Kidney Diseases; Kenneth Rainin Foundation; Yale Cancer Center; Canadian Institutes of Health Research; Leona M. and Harry B. Helmsley Charitable Trust; National Institutes of Health; Yale University; National Institute of Arthritis and Musculoskeletal and Skin Diseases; G. Harold and Leila Y. Mathers Charitable Foundation","keywords":"Medicine; Leukocytosis; Inflammatory bowel disease; Immunology; Behcet's disease; Disease; Thrombocytosis; Calprotectin; myalgia; Internal medicine; Gastroenterology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004849834,0.001151498,0.0004775092,0.001204413,0.0007457184,0.0004442315,0.0005027875,0.001323647,0.002494412],"category_scores_gemma":[0.001525145,0.0002501627,0.0003036069,0.0006085444,0.001017226,0.0005733062,0.0005925066,0.0005354114,0.0003504478],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003481361,"about_ca_system_score_gemma":0.0003646469,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001371582,"about_ca_topic_score_gemma":0.0009818485,"domain_scores_codex":[0.9997367,0.00003609694,0.00004984561,0.00005420906,0.00003161332,0.00009158975],"domain_scores_gemma":[0.9995537,0.0001723523,0.0001025193,0.00003042474,0.00004342606,0.0000975872],"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":[0.001779971,0.0001639102,0.123984,0.0001722635,0.0001000895,0.8297461,0.0004809765,0.0002615773,0.03069417,0.001876949,0.001102913,0.009637153],"study_design_scores_gemma":[0.0001574543,0.00051827,0.1107683,0.00002916337,0.0001271422,0.8797829,0.0002904581,0.000774066,0.005196561,0.0006243573,0.001710133,0.00002118562],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931425,0.0009254082,0.0005778273,0.0006260478,0.00006257532,0.00003804111,0.0001214111,0.00002623016,0.00447989],"genre_scores_gemma":[0.9987541,0.0001193837,0.0004076057,0.0001742024,0.00007697323,0.00000490984,0.00007745865,0.000004287023,0.0003810101],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002494412,"threshold_uncertainty_score":0.00834471,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03244564702841468,"score_gpt":0.3645514536326325,"score_spread":0.3321058066042178,"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."}}