{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005275281,0.00009111248,0.0001545786,0.0002087027,0.0001369372,0.00003281832,0.0002030159,0.00007470422,0.00002939032],"category_scores_gemma":[0.0000911414,0.00007258547,0.00003997527,0.0001717243,0.0001138798,0.000007917222,0.00007133425,0.0003072579,9.938352e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002768044,"about_ca_system_score_gemma":0.0001803563,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001465152,"about_ca_topic_score_gemma":0.0004880794,"domain_scores_codex":[0.9992479,0.00007285534,0.0002758906,0.000106016,0.000146288,0.0001510303],"domain_scores_gemma":[0.9994593,0.00001371801,0.0001164914,0.0001897498,0.0001729976,0.00004774313],"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":[0.0005183652,0.0004742598,0.01033437,0.00004223076,0.00007138898,0.00001221801,0.0002471553,0.0001248988,0.9835017,0.0008574403,0.00033006,0.003485868],"study_design_scores_gemma":[0.01618838,0.006168064,0.7299538,0.0004629254,0.00009118518,0.0001516668,0.001743984,0.0001362501,0.184046,0.0008307645,0.05948815,0.0007388309],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948479,0.001156261,0.0008506108,0.0001261096,0.00003078657,0.0001107513,0.000002289306,0.000002234958,0.002873078],"genre_scores_gemma":[0.9982086,0.0001213019,0.0005926917,0.00007943331,0.00003284091,0.00000198322,0.000006513787,0.00000723957,0.0009494131],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7994557,"threshold_uncertainty_score":0.2959949,"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."}}