{"id":"W4412636238","doi":"10.1530/edm-25-0054","title":"Delayed diagnosis of STAT1 gain-of-function variant in a patient with multiple endocrine autoimmunity and recurrent fungal infections","year":2025,"lang":"en","type":"article","venue":"Endocrinology Diabetes and Metabolism Case Reports","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hamilton Health Sciences; University of British Columbia","funders":"","keywords":"Chronic mucocutaneous candidiasis; Autoimmunity; Medicine; Immunology; Immune dysregulation; Autoimmune hepatitis; Primary immunodeficiency; Immunodeficiency; Autoimmune disease; Genetic testing; Immune system; Disease; Internal medicine; Antibody; Hepatitis","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":[0.0002321279,0.0002469233,0.0006482883,0.0004459156,0.0002047493,0.000007767296,0.00004229693,0.0001205109,0.00003014529],"category_scores_gemma":[0.0002567841,0.0002084205,0.00007530905,0.0003584201,0.0005220131,0.0001073597,0.0001592205,0.0003749557,4.513761e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002038559,"about_ca_system_score_gemma":0.0001186359,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001490141,"about_ca_topic_score_gemma":0.0001431334,"domain_scores_codex":[0.9980344,0.0002863746,0.0007646389,0.0003802788,0.00003891558,0.0004953807],"domain_scores_gemma":[0.9987699,0.0003639397,0.0003803275,0.0003552649,0.0001172629,0.00001330968],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000865488,0.003866236,0.4824038,0.0004699828,0.002267997,0.009186794,0.003975448,0.0003074285,0.03268503,0.007337252,0.00006751419,0.456567],"study_design_scores_gemma":[0.009509367,0.0022857,0.7722669,0.0004536126,0.001608381,0.04370031,0.004491956,0.0001209364,0.1119379,0.001623875,0.05100951,0.0009915323],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9082125,0.09023309,0.00006433434,0.00004783766,0.0007204842,0.0004649004,0.00004150121,0.0000319301,0.0001834188],"genre_scores_gemma":[0.997852,0.001694453,0.00003634203,0.00003840297,0.000001715886,0.0002746204,0.00004611877,0.00001081753,0.00004553968],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4555755,"threshold_uncertainty_score":0.849914,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005450810196864892,"score_gpt":0.2178963766463159,"score_spread":0.212445566449451,"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."}}