{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002808344,0.002045551,0.0008284931,0.001385832,0.0005121758,0.0006943445,0.001046475,0.003062888,0.002404137],"category_scores_gemma":[0.001685958,0.0004422518,0.0006978678,0.0004540691,0.001090712,0.0006538988,0.000953907,0.0009026548,0.0005361067],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000422384,"about_ca_system_score_gemma":0.0002995364,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001113834,"about_ca_topic_score_gemma":0.0005929148,"domain_scores_codex":[0.9996654,0.00004223143,0.00004879121,0.00009916436,0.00007277833,0.00007172862],"domain_scores_gemma":[0.999074,0.0003713765,0.0001119549,0.00005728986,0.00008344573,0.0003018354],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0009149535,0.0001009912,0.01239344,0.0001457613,0.00009069873,0.9013696,0.0002027544,0.0003242375,0.07867137,0.0006121998,0.001167333,0.004006679],"study_design_scores_gemma":[0.0002164518,0.000441116,0.03134201,0.00004452993,0.0001840194,0.9216679,0.0001971256,0.002219978,0.03858874,0.0007532336,0.004291489,0.00005347956],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9823538,0.004203342,0.004584784,0.001993072,0.0004216867,0.0000897639,0.001230336,0.0001966223,0.004926572],"genre_scores_gemma":[0.9977951,0.0003914969,0.0007866683,0.0001623986,0.00007866207,0.00001058308,0.0002078675,0.00001825875,0.0005490927],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003062888,"threshold_uncertainty_score":0.008042574,"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."}}