{"id":"W2085194212","doi":"10.1182/blood-2009-07-231498","title":"A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity","year":2009,"lang":"en","type":"article","venue":"Blood","topic":"Neutrophil, Myeloperoxidase and Oxidative Mechanisms","field":"Immunology and Microbiology","cited_by":415,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Heart, Lung, and Blood Institute; Emory University; National Cancer Institute; National Institutes of Health; National Institute of Allergy and Infectious Diseases; Riley Children's Foundation; School of Medicine, Indiana University; Montana State University; Lilly Endowment; Eli Lilly and Company; Jeffrey Modell Foundation; American Heart Association","keywords":"Chronic granulomatous disease; NADPH oxidase; Superoxide; Biology; Compound heterozygosity; Phagocyte; Molecular biology; Phagocytosis; P22phox; Mutation; Immunology; Reactive oxygen species; Biochemistry; Gene","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":[0.0002083798,0.001769733,0.0006986637,0.001041777,0.0009628233,0.0004359696,0.0004170406,0.001147077,0.002438409],"category_scores_gemma":[0.001114586,0.00040834,0.0003971063,0.0007842738,0.001010424,0.0003435547,0.0008085708,0.0005518542,0.0003783354],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003031465,"about_ca_system_score_gemma":0.0005699606,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002043749,"about_ca_topic_score_gemma":0.003328671,"domain_scores_codex":[0.99955,0.00005101434,0.00004433099,0.0001402455,0.00008261458,0.0001317158],"domain_scores_gemma":[0.999245,0.0001709889,0.0002238,0.00006818977,0.00006422131,0.000227746],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005718213,0.0002287709,0.1926016,0.0002191957,0.0001056145,0.7227993,0.0007489423,0.0002347708,0.0657073,0.001304946,0.001611392,0.01386629],"study_design_scores_gemma":[0.00006268856,0.0002390412,0.0755779,0.00002606572,0.00005258626,0.9191041,0.0001419985,0.0002077761,0.001764331,0.0001680951,0.002643383,0.00001205427],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937768,0.001103079,0.001548578,0.0002167056,0.00005143897,0.00009402205,0.0002946499,0.00009864267,0.002816069],"genre_scores_gemma":[0.9956429,0.000490491,0.001764277,0.0001457529,0.0001570485,0.00004150326,0.0003869787,0.0000268623,0.001344181],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002438409,"threshold_uncertainty_score":0.008157253,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00555266280984642,"score_gpt":0.2111808426508764,"score_spread":0.20562817984103,"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."}}