{"id":"W4406149232","doi":"10.1016/j.oooo.2024.10.110","title":"Gain-of-function mutation in STAT1: cause of chronic mucocutaneous candidiasis in a patient with recurrent oral and esophageal candidiasis","year":2025,"lang":"en","type":"article","venue":"Oral Surgery Oral Medicine Oral Pathology and Oral Radiology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"","keywords":"Chronic mucocutaneous candidiasis; Medicine; Dermatology; Mucocutaneous zone; Esophageal candidiasis; Mutation; Immunology; Internal medicine; Disease; Genetics; Gene","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001162675,0.0004663032,0.001735549,0.00104349,0.0001466723,0.000007128247,0.0001495192,0.0005722081,0.0001453463],"category_scores_gemma":[0.0003999461,0.0003677272,0.00009219369,0.0008760253,0.002070826,0.0002062871,0.0001001749,0.0006661711,0.000003729505],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001655181,"about_ca_system_score_gemma":0.0003965028,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005376738,"about_ca_topic_score_gemma":0.004157667,"domain_scores_codex":[0.9959332,0.001308775,0.001199941,0.0006923658,0.00008428145,0.0007813866],"domain_scores_gemma":[0.9984517,0.0006574709,0.000439209,0.000300678,0.0001160608,0.00003492573],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.01112131,0.001003684,0.3170922,0.0004936099,0.0004589524,0.003057323,0.005190615,0.0003739552,0.02293241,0.001361561,0.0004905786,0.6364239],"study_design_scores_gemma":[0.02314556,0.02224097,0.9143432,0.001981851,0.001163824,0.008826272,0.009557535,0.0005840146,0.008463164,0.003488257,0.004281483,0.001923898],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9551959,0.04248348,0.0001334258,0.0005515955,0.001003088,0.0005059238,0.00003587825,0.00003209654,0.00005862248],"genre_scores_gemma":[0.9977429,0.001466965,0.00004919254,0.0002989114,0.000005647466,0.00006264058,0.0002809827,0.00002169712,0.00007107474],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6345,"threshold_uncertainty_score":0.9998775,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01084054208160906,"score_gpt":0.2483728554988898,"score_spread":0.2375323134172807,"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."}}