{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00123047,0.0002715733,0.0007302155,0.0003398837,0.0006361651,0.00006368298,0.0002339895,0.000176363,0.0001096144],"category_scores_gemma":[0.0004420027,0.0002269981,0.0006143199,0.0003818456,0.0002434262,0.0002187311,0.0002054864,0.001386234,0.000005578314],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004320167,"about_ca_system_score_gemma":0.0005778277,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002166445,"about_ca_topic_score_gemma":0.0002948745,"domain_scores_codex":[0.9978911,0.000220621,0.001002785,0.0001738771,0.0003551112,0.0003565044],"domain_scores_gemma":[0.9978433,0.0001551079,0.0005479882,0.0006855104,0.0005991448,0.0001689171],"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":[0.001372887,0.003561707,0.01693364,0.0002829496,0.0008665707,0.000583605,0.001203562,0.0001217993,0.9678614,0.0004923993,0.0006717299,0.006047725],"study_design_scores_gemma":[0.009222181,0.003226012,0.9723451,0.0006235941,0.000856397,0.005835007,0.001191727,0.0002102238,0.004377914,0.001258536,0.0004213894,0.0004319161],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935436,0.0005182549,0.002532458,0.000247437,0.000348057,0.0002505659,0.00001177291,0.00005288811,0.002495022],"genre_scores_gemma":[0.9983889,0.00007184299,0.0003501588,0.0005897357,0.0001026106,0.000002584585,0.000009559596,0.00002314674,0.0004614365],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9634835,"threshold_uncertainty_score":0.9256715,"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."}}