{"id":"W4386597802","doi":"10.1101/2023.09.09.23295301","title":"A germline heterozygous dominant negative <i>IKZF2</i> variant causing syndromic primary immune regulatory disorder and ICHAD","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Immune Cell Function and Interaction","field":"Immunology and Microbiology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Genome British Columbia; Pacific Centre for Reproductive Medicine; BC Children's Hospital; University of British Columbia","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; Killam Trusts; Genome British Columbia; BC Children's Hospital; Children's Hospital Foundation","keywords":"Biology; Immunology; Immune system; Immune dysregulation; T cell; CD8; Germline; Regulatory T cell; Autoimmunity; Genetics; Gene; IL-2 receptor","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":[0.0001210352,0.001066114,0.0002952883,0.0005613514,0.0003618378,0.0002719072,0.0003062995,0.0005699679,0.002772215],"category_scores_gemma":[0.0002703791,0.0001599058,0.000344289,0.0002383728,0.0005322864,0.0001327912,0.0002767409,0.0005747218,0.0003957541],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002400482,"about_ca_system_score_gemma":0.0001760512,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008279805,"about_ca_topic_score_gemma":0.0006680466,"domain_scores_codex":[0.9998083,0.0000180789,0.0000179889,0.00007276027,0.00004314383,0.00003981903],"domain_scores_gemma":[0.9998049,0.00004673049,0.00005584656,0.00001130737,0.00001577481,0.00006549705],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0003457159,0.0001378911,0.03024763,0.0001177165,0.00008674409,0.4831432,0.0004516696,0.000290562,0.4757564,0.001006109,0.0009099625,0.007506449],"study_design_scores_gemma":[0.00007565709,0.0004900923,0.0916201,0.00004449815,0.0001285709,0.8420174,0.0003266443,0.00158039,0.05847395,0.0005584095,0.004656935,0.00002744381],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941297,0.0003163353,0.002162396,0.0002433257,0.00004001742,0.00003579972,0.0003802834,0.0001615917,0.002530693],"genre_scores_gemma":[0.9981376,0.00008907461,0.0007467545,0.0001030464,0.00003718356,0.000006630573,0.0001416084,0.00001956683,0.0007184615],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002772215,"threshold_uncertainty_score":0.009273946,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01419691084171384,"score_gpt":0.2331730071272358,"score_spread":0.2189760962855219,"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."}}