{"id":"W2808207128","doi":"10.1172/jci97116","title":"Inherited p40phox deficiency differs from classic chronic granulomatous disease","year":2018,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Neutrophil, Myeloperoxidase and Oxidative Mechanisms","field":"Immunology and Microbiology","cited_by":133,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"NHLBI Division of Intramural Research; National Center for Research Resources; National Cancer Institute; Canadian Institutes of Health Research; National Center for Advancing Translational Sciences; Consejo Nacional de Ciencia y Tecnología; Agence Nationale de la Recherche; National Institutes of Health; U.S. Department of Health and Human Services; Japan Foundation for Pediatric Research; Lastentautien Tutkimussäätiö; Institut des maladies génétiques Imagine; Leona M. and Harry B. Helmsley Charitable Trust; Institut National de la Santé et de la Recherche Médicale; Division of Intramural Research, National Institute of Allergy and Infectious Diseases; National Institute of Allergy and Infectious Diseases; Université Paris Descartes; St. Giles Foundation; Departamento Administrativo de Ciencia, Tecnología e Innovación (COLCIENCIAS)","keywords":"Chronic granulomatous disease; NADPH oxidase; Compound heterozygosity; Biology; Oxidase test; Aspergillus fumigatus; Phagocyte; Immunology; Mutation; Candida albicans; Microbiology; Gene; Phagocytosis; Genetics; Enzyme; Reactive oxygen species; Biochemistry","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001752203,0.000999256,0.000419347,0.001048406,0.0004792406,0.000404437,0.000271015,0.0006936147,0.002614302],"category_scores_gemma":[0.001119787,0.0003054599,0.0002475166,0.0007982198,0.0005917571,0.0002820776,0.0006884981,0.0003140054,0.0002881547],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002396711,"about_ca_system_score_gemma":0.0002509551,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008342627,"about_ca_topic_score_gemma":0.0009239651,"domain_scores_codex":[0.9996737,0.0000372269,0.00004137701,0.0001131843,0.00005208036,0.00008247649],"domain_scores_gemma":[0.9995054,0.0001212138,0.0001405357,0.0000389735,0.00002975127,0.000164087],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00184716,0.0002550616,0.4618696,0.0003903588,0.0002530705,0.3254999,0.001968339,0.0003939081,0.1755849,0.001468075,0.0009888856,0.02948082],"study_design_scores_gemma":[0.0001511428,0.0003552696,0.3591198,0.00006094304,0.0001344921,0.6304235,0.0003349428,0.0002353206,0.005595649,0.000428853,0.003132862,0.00002714162],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981847,0.0004066455,0.000241302,0.00003608028,0.000007547893,0.00001235045,0.00009849919,0.00002137808,0.0009914117],"genre_scores_gemma":[0.9990308,0.0001846049,0.0003113175,0.000048948,0.00001837571,0.000009809469,0.0001282734,0.00001027087,0.0002575577],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002614302,"threshold_uncertainty_score":0.00874567,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05577987491519491,"score_gpt":0.3287580882557917,"score_spread":0.2729782133405968,"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."}}