{"id":"W2921788382","doi":"10.1007/s10875-019-00603-w","title":"Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction","year":2019,"lang":"en","type":"article","venue":"Journal of Clinical Immunology","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"NHLBI Division of Intramural Research; Uniscientia Foundation; Vlaamse regering; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Division of Intramural Research, National Institute of Allergy and Infectious Diseases; Institut National de la Santé et de la Recherche Médicale; Universität Zürich; Fonds Wetenschappelijk Onderzoek; CSL Behring; National Institute of Allergy and Infectious Diseases; Université Paris Descartes; St. Giles Foundation; Consejo Nacional de Ciencia y Tecnología; Agence Nationale de la Recherche; Jeffrey Modell Foundation; National Science Foundation","keywords":"Mutation; Guanine nucleotide exchange factor; Biology; Immunodeficiency; Wiskott–Aldrich syndrome; Immunology; Cytoskeleton; Genetics; Cell biology; Gene; Signal transduction; Cell; Immune system","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":[0.0005212783,0.00006607905,0.0002629406,0.00003516877,0.00002723639,0.000005228874,0.00007804189,0.0001547452,0.000004634361],"category_scores_gemma":[0.000574675,0.00005227369,0.0001529325,0.00003110046,0.00009051582,0.000009113242,0.00003376502,0.00009140396,6.519979e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003801702,"about_ca_system_score_gemma":0.00008747609,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009322224,"about_ca_topic_score_gemma":0.000004549986,"domain_scores_codex":[0.9989203,0.00004191584,0.0007384871,0.0001463983,0.00006555014,0.00008733701],"domain_scores_gemma":[0.9986597,0.00008573124,0.000824422,0.0001529326,0.0002514141,0.00002578681],"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":[0.002488611,0.001870603,0.1653978,0.0001003593,0.0009242924,0.00004830308,0.0000493169,0.0001165076,0.8070356,0.0006501141,0.0003872263,0.02093133],"study_design_scores_gemma":[0.0288128,0.03968807,0.8615313,0.0003386785,0.0008985568,0.004180745,0.0002881291,0.0001239561,0.05558083,0.002750328,0.005379642,0.0004270249],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943449,0.003389843,0.001433589,0.000224289,0.0004138854,0.0001257565,0.00000154796,0.000001111145,0.00006505776],"genre_scores_gemma":[0.9982379,0.0003577272,0.001097592,0.00006353749,0.00009144205,0.000002484113,0.000005952554,0.000006190328,0.0001371641],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7514548,"threshold_uncertainty_score":0.2131659,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06869149372415433,"score_gpt":0.4015200210857467,"score_spread":0.3328285273615924,"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."}}