{"id":"W4412980109","doi":"10.1016/j.jaci.2025.07.021","title":"Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation","year":2025,"lang":"en","type":"article","venue":"Journal of Allergy and Clinical Immunology","topic":"Immune Response and Inflammation","field":"Immunology and Microbiology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; AllerGen; University of Toronto; Hospital for Sick Children","funders":"GlaxoSmithKline; Immunodeficiency Canada; AstraZeneca; Jeffrey Modell Foundation","keywords":"Inflammation; Human immunodeficiency virus (HIV); Immunodeficiency; Immunology; Medicine; Immune system","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":[0.0004606257,0.001433562,0.0004406882,0.001014457,0.0004223367,0.0004486123,0.0005938123,0.001280508,0.0042187],"category_scores_gemma":[0.001230858,0.0002739938,0.0003480514,0.000446353,0.0008901164,0.0003583041,0.0004218621,0.0007257609,0.0004113833],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000293301,"about_ca_system_score_gemma":0.0002849102,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008706175,"about_ca_topic_score_gemma":0.0008204859,"domain_scores_codex":[0.9995265,0.0001431198,0.00004447748,0.0001026414,0.00008071339,0.000102651],"domain_scores_gemma":[0.9987113,0.0005254167,0.0004744312,0.0000835034,0.00004777577,0.0001576164],"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":[0.002327832,0.0003901249,0.1481118,0.0002728066,0.0002370059,0.6950797,0.0006196297,0.0004822182,0.1370536,0.002805075,0.001053696,0.01156658],"study_design_scores_gemma":[0.0001581319,0.0006066209,0.1645936,0.00007329879,0.0001679502,0.8243203,0.0002574612,0.000834679,0.005566658,0.0009042009,0.002481159,0.0000358323],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9902976,0.002232991,0.0008249005,0.000493089,0.00003905995,0.00002206959,0.0002941655,0.0001213048,0.00567474],"genre_scores_gemma":[0.9983321,0.0003017678,0.0004304418,0.0000975652,0.0000661559,0.000006535513,0.00008854925,0.00001240088,0.000664454],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0042187,"threshold_uncertainty_score":0.01411295,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01110173477965275,"score_gpt":0.286037223488214,"score_spread":0.2749354887085613,"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."}}