{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009496699,0.0002876449,0.0006508503,0.0004545939,0.0007329966,0.00003450099,0.0005057002,0.0002368337,0.0002176849],"category_scores_gemma":[0.0002908391,0.0002401901,0.000221315,0.0002273838,0.0004552493,0.0002448223,0.0001182062,0.000810084,0.00001118597],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001209364,"about_ca_system_score_gemma":0.0001926488,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008120617,"about_ca_topic_score_gemma":0.00002095175,"domain_scores_codex":[0.9974902,0.0005504448,0.001393821,0.0001937365,0.00009477842,0.0002769945],"domain_scores_gemma":[0.9974847,0.000177912,0.001281946,0.0007482811,0.0002908988,0.00001626786],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003163591,0.01784169,0.5953025,0.0006092848,0.004426091,0.0002879893,0.01628298,0.0001217891,0.3011149,0.008728826,0.002822196,0.04929823],"study_design_scores_gemma":[0.008321939,0.005137786,0.929104,0.0004901647,0.0005287619,0.0003447511,0.01117236,0.000001986024,0.02889345,0.001757276,0.01373321,0.0005143294],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906353,0.003377469,0.00001123233,0.00008081934,0.0009837026,0.0001948237,0.00002477831,0.00001971239,0.004672121],"genre_scores_gemma":[0.9949436,0.0001557038,0.00001591052,0.00009482226,0.000004789764,0.000004596127,0.0001425717,0.00001718822,0.004620856],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3338015,"threshold_uncertainty_score":0.979467,"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."}}