{"id":"W4414657790","doi":"10.70962/jhi.20250018","title":"Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiency","year":2025,"lang":"en","type":"article","venue":"Journal of Human Immunity","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; BC Children's Hospital","funders":"Canadian Institutes of Health Research; Fondation pour la Recherche Médicale; Université de Strasbourg; Institut National de la Santé et de la Recherche Médicale; European Research Council; BC Children’s Hospital Foundation; Michael Smith Health Research BC; BC Children's Hospital; St. Giles Foundation; European Commission; Centre National de la Recherche Scientifique; Rockefeller University; Children's Hospital Foundation; National Institutes of Health; Canada Research Chairs; National Center for Advancing Translational Sciences; HORIZON EUROPE Framework Programme; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Agence Nationale de la Recherche; National Institute of Allergy and Infectious Diseases; Howard Hughes Medical Institute","keywords":"Haploinsufficiency; Disease; Allele; Phenotype; Necrosis; Multisystem disease","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":[0.0001940762,0.0008007456,0.0003810225,0.000807552,0.0004907554,0.0004087922,0.0002153217,0.0007440583,0.001746711],"category_scores_gemma":[0.0007970933,0.0001653707,0.0002534868,0.0004050369,0.0006159772,0.0002018808,0.0004475509,0.0003245797,0.0001730227],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001430757,"about_ca_system_score_gemma":0.00009743412,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004145961,"about_ca_topic_score_gemma":0.0004079793,"domain_scores_codex":[0.9997912,0.00003563756,0.0000306615,0.0000688447,0.00004176949,0.00003195277],"domain_scores_gemma":[0.9997339,0.00007166161,0.00009698145,0.00002169863,0.00001842556,0.00005726666],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002057086,0.0002175082,0.4354477,0.0001833539,0.0001604094,0.2454824,0.002240276,0.0009789004,0.2834319,0.00192214,0.001094383,0.02678388],"study_design_scores_gemma":[0.00005598965,0.001083447,0.4613011,0.0001062883,0.0002291466,0.4894607,0.001236211,0.002054762,0.035973,0.002129977,0.006284499,0.00008496991],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979977,0.0002714766,0.0007047525,0.00009822908,0.00001427497,0.00001130754,0.0001498383,0.00001853342,0.0007338963],"genre_scores_gemma":[0.9989454,0.0001684406,0.0004285341,0.00006276771,0.0000163259,0.000004507744,0.0001301689,0.00001097713,0.0002327882],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001746711,"threshold_uncertainty_score":0.005843341,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01319759220405188,"score_gpt":0.2906014579885546,"score_spread":0.2774038657845027,"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."}}