{"id":"W4317600110","doi":"10.1126/sciimmunol.ade7953","title":"A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency","year":2023,"lang":"en","type":"article","venue":"Science Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"Okanagan University College; University of British Columbia, Okanagan Campus; University of British Columbia; BC Children's Hospital","funders":"National Health and Medical Research Council; Medical Research Council; Canadian Institutes of Health Research; Natural Sciences and Engineering Research Council of Canada; Assistance publique-Hôpitaux de Paris; Ligue Contre le Cancer; Centre National de la Recherche Scientifique; Institut National de la Santé et de la Recherche Médicale; Zhengzhou University; Fudan University; Assistance Publique - Hôpitaux de Paris; National Natural Science Foundation of China; National Institutes of Health; U.S. Department of Health and Human Services; Keio University; Canada Research Chairs; NIH Clinical Center; National Institute of Allergy and Infectious Diseases; Agence Nationale de la Recherche; Children's Hospital Foundation; Deutsche Forschungsgemeinschaft; Etablissement Français du Sang; Institut des maladies génétiques Imagine; Vanderbilt University Medical Center; Vanderbilt University; BC Children's Hospital","keywords":"IRF4; Biology; Transcription factor; Interferon regulatory factors; Mutation; Gene; Antibody; Molecular biology; Immunodeficiency; Immune system; Immunology; Genetics","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":[0.00015873,0.001079511,0.0002899767,0.0005241972,0.0003990419,0.0001748315,0.0003280397,0.0005550703,0.002464679],"category_scores_gemma":[0.0003903124,0.0001966837,0.0004928074,0.0002840818,0.0004071847,0.0001198928,0.0003984616,0.0005605847,0.0003461544],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002893487,"about_ca_system_score_gemma":0.0002152823,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009821731,"about_ca_topic_score_gemma":0.0009621052,"domain_scores_codex":[0.9997924,0.00002872794,0.00002602593,0.00006810205,0.00004955083,0.00003518814],"domain_scores_gemma":[0.9998425,0.00004111735,0.00004079835,0.00001430586,0.00001533096,0.000045866],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0009471599,0.0003679632,0.05680508,0.0001762173,0.0003302981,0.1384537,0.0005329696,0.0007069965,0.7696705,0.0009106685,0.001456322,0.02964209],"study_design_scores_gemma":[0.0003268267,0.00222371,0.2391967,0.00007418509,0.0004309536,0.6252949,0.0004608417,0.003443153,0.1179596,0.0006951051,0.009812795,0.00008125237],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964353,0.0002818618,0.001641527,0.00009294229,0.00002504807,0.00003546193,0.0002759233,0.000102351,0.001109618],"genre_scores_gemma":[0.9980353,0.00009891197,0.000965765,0.00006120598,0.0000144741,0.000009404924,0.0002115661,0.00001486948,0.0005884593],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002464679,"threshold_uncertainty_score":0.00824517,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01518661608177245,"score_gpt":0.275972758997997,"score_spread":0.2607861429162245,"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."}}