{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006639094,0.0002596068,0.0004011791,0.0002816778,0.00008408121,0.00001212093,0.0001314793,0.0001383177,0.00002923726],"category_scores_gemma":[0.00003325339,0.000228788,0.00005031845,0.0004956131,0.0001276603,0.0001489903,0.0000366763,0.000314848,0.00001087821],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006430047,"about_ca_system_score_gemma":0.0003484911,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002957994,"about_ca_topic_score_gemma":0.0008919187,"domain_scores_codex":[0.9985813,0.000251787,0.0002491678,0.0004577633,0.00005237198,0.0004076485],"domain_scores_gemma":[0.9994069,0.00009431201,0.0001452071,0.0002255224,0.00004930109,0.00007877617],"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":[0.0007461637,0.001225691,0.01426022,0.00004248176,0.00008056527,0.0003602774,0.0006586325,0.0000712215,0.9782915,0.0005223318,0.000009584408,0.003731335],"study_design_scores_gemma":[0.006855199,0.001299188,0.5643944,0.0001323267,0.0001119418,0.00008926651,0.00004771476,0.000009503109,0.4254612,0.00135669,0.00001015565,0.0002323899],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963807,0.002626381,0.0001406294,0.0001369846,0.00003902208,0.0005392191,0.00002596639,0.00003707158,0.00007405496],"genre_scores_gemma":[0.9994017,0.0001092743,0.0002759829,0.00005816499,0.00002109811,0.00004049551,0.00002503856,0.00001863331,0.00004960806],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5528303,"threshold_uncertainty_score":0.9329703,"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."}}