{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","sts","insufficient_payload"],"consensus_categories":["sts"],"category_scores_codex":[0.001814023,0.000393752,0.0005575644,0.001769519,0.001532794,0.00007320063,0.001506381,0.0003573261,0.0003616868],"category_scores_gemma":[0.0005173484,0.0003728834,0.000144299,0.004158854,0.003912529,0.0006189538,0.0005064649,0.0007226769,0.003141952],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001956271,"about_ca_system_score_gemma":0.0004397946,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001332028,"about_ca_topic_score_gemma":0.00004675262,"domain_scores_codex":[0.9959871,0.0002966595,0.0008676265,0.0009370646,0.0001726043,0.001738995],"domain_scores_gemma":[0.998493,0.0001968656,0.0002705895,0.0008536646,0.000171589,0.00001435867],"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":[0.00009908399,0.000312122,0.002007369,0.00001065408,0.00002758883,0.00005057556,0.002703322,0.0001689096,0.98151,0.007244299,0.00003102684,0.005835084],"study_design_scores_gemma":[0.006689404,0.0009594646,0.7674589,0.0001236269,0.00003111145,0.0002711421,0.007610618,0.0005377507,0.209159,0.00312539,0.003045722,0.0009879041],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898753,0.004767423,0.00002908176,0.0004268397,0.002358723,0.0005110534,0.00001042815,0.0003983582,0.001622834],"genre_scores_gemma":[0.9979533,0.0001266123,0.00001652959,0.00008950058,0.00000345225,0.0001259103,0.0001328943,0.00003014279,0.001521636],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.772351,"threshold_uncertainty_score":0.9998723,"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."}}