{"id":"W4412701708","doi":"10.70962/jhi.20250007","title":"Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients","year":2025,"lang":"en","type":"article","venue":"Journal of Human Immunity","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Infection and Immunity","funders":"NHLBI Division of Intramural Research; National Institutes of Health; National Institute of Allergy and Infectious Diseases; Université de Paris; Division of Intramural Research, National Institute of Allergy and Infectious Diseases; Vlaamse regering; Institut National de la Santé et de la Recherche Médicale; Institut des maladies génétiques Imagine; Fonds Wetenschappelijk Onderzoek","keywords":"Medicine; Pediatrics; Transplantation; Intensive care medicine; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.003374112,0.000469084,0.0009783136,0.003880324,0.0004893685,0.001465392,0.0008426182,0.000553986,0.003715767],"category_scores_gemma":[0.009921499,0.0004019762,0.0008118659,0.00916973,0.0001936407,0.001001811,0.001090247,0.0006151127,0.002364135],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001209319,"about_ca_system_score_gemma":0.002542432,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01310381,"about_ca_topic_score_gemma":0.007542732,"domain_scores_codex":[0.9969242,0.0005023447,0.0009380712,0.0005750179,0.0008230493,0.0002372827],"domain_scores_gemma":[0.9892471,0.002245216,0.003912438,0.00121751,0.002759229,0.0006183999],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007503933,0.0001036584,0.8468246,0.0005976316,0.0005593211,0.0003785673,0.0001711057,0.0007283428,0.0003204152,0.0005415514,0.1064423,0.04258213],"study_design_scores_gemma":[0.0002893645,0.0001883681,0.8994135,0.000653579,0.0006247323,0.002219621,0.0003364096,0.0008218273,0.0009556121,0.0003734761,0.09406532,0.00005821454],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.2156597,0.007558519,0.001715704,0.001042799,0.0001121344,0.0002800171,0.7668505,0.0002701041,0.006510593],"genre_scores_gemma":[0.2297855,0.005858129,0.002215331,0.0005510535,0.0001870953,0.0007888164,0.7582817,0.00009143203,0.002240957],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01310381,"threshold_uncertainty_score":0.0260551,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01981834396956137,"score_gpt":0.3068744729471943,"score_spread":0.2870561289776329,"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."}}