{"id":"W4414994037","doi":"10.70962/jhi.20250151","title":"A novel heterozygous pathogenic <i>AIRE</i> variant causing autoimmunity but not infectious susceptibility","year":2025,"lang":"en","type":"article","venue":"Journal of Human Immunity","topic":"Adrenal Hormones and Disorders","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of Allergy and Infectious Diseases; Medical Research Council; Stavros Niarchos Foundation; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Fondation pour la Recherche Médicale; Fondation du Souffle; Institut National de la Santé et de la Recherche Médicale; National Health and Medical Research Council; Institut des maladies génétiques Imagine; Genomic Health; Ministère de l'Enseignement supérieur, de la Recherche et de l'Innovation; St. Giles Foundation; National Center for Advancing Translational Sciences; Agence Nationale de la Recherche; Georgia Clinical and Translational Science Alliance","keywords":"Autoimmunity; Chronic mucocutaneous candidiasis; Autoantibody; Phenotype; Disease; Heterozygote advantage; Autoimmune disease; Mucocutaneous zone; Allele","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":[0.0001343649,0.0007886206,0.0003433699,0.0005906057,0.0005679208,0.0003403524,0.000339974,0.0009493153,0.002486447],"category_scores_gemma":[0.0007738873,0.0001680644,0.0003892693,0.0002555007,0.0005288505,0.0001858648,0.0004517871,0.0005116031,0.0002955412],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001747318,"about_ca_system_score_gemma":0.0001610824,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001357469,"about_ca_topic_score_gemma":0.001338678,"domain_scores_codex":[0.9997731,0.00002758934,0.00002958351,0.00008719941,0.00003711938,0.00004546604],"domain_scores_gemma":[0.9996269,0.0001316498,0.00007935036,0.00002775709,0.00003463398,0.00009965418],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0002514088,0.000115493,0.0747584,0.00009157615,0.00006843205,0.8167673,0.0008237846,0.0002021894,0.09953228,0.0007540665,0.0006835284,0.005951534],"study_design_scores_gemma":[0.00003833598,0.0003113141,0.1076759,0.00002921238,0.00006820622,0.8786365,0.0002963448,0.0007407413,0.009478903,0.0003276433,0.002363788,0.00003320817],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997178,0.0001921091,0.0007971676,0.0002137601,0.00003459543,0.00002923313,0.0001855866,0.00003455843,0.001335064],"genre_scores_gemma":[0.9987379,0.00005736427,0.0004707622,0.0001060571,0.00003054233,0.000005381045,0.00008467911,0.000009852515,0.0004974405],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002486447,"threshold_uncertainty_score":0.008317947,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0220854257889111,"score_gpt":0.2958039163733585,"score_spread":0.2737184905844474,"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."}}